ID: 1 Disease Name: Alzheimer Disease Description: A degenerative disease of the brain characterized by the insidious onset of dementia. Impairment of memory, judgment, attention span, and problem solving skills are followed by severe apraxias and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of senile plaques; neurofibrillary tangles; and neuropil threads. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/G30 https://meshb.nlm.nih.gov/record/ui?ui=D000544 https://www.omim.org/entry/104300 https://www.ncbi.nlm.nih.gov/pubmed/8713166 https://www.ncbi.nlm.nih.gov/pubmed/6375662 https://www.ncbi.nlm.nih.gov/pubmed/3159021 https://www.ncbi.nlm.nih.gov/pubmed/17065112 Alternative Names: Acute Confusional Senile Dementia Alzheimer Dementia Alzheimer Disease, Early Onset Alzheimer Disease, Late Onset Alzheimer Sclerosis Alzheimer Syndrome Alzheimer Type Senile Dementia Alzheimer's Disease Alzheimer's Disease, Focal Onset Alzheimer-Type Dementia (ATD) Dementia, Alzheimer Type Dementia, Presenile Dementia, Primary Senile Degenerative Dementia, Senile Early Onset Alzheimer Disease Familial Alzheimer Disease (FAD) Focal Onset Alzheimer's Disease Late Onset Alzheimer Disease Presenile Alzheimer Dementia Primary Senile Degenerative Dementia Senile Dementia, Acute Confusional Senile Dementia, Alzheimer Type Presenile and Senile Dementia Precursor Proteins: P05067 | Amyloid-beta A4 protein Co-deposited Proteins: P01011 | Alpha-1-antichymotrypsin P01034 | Cystatin-C P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P07339 | Cathepsin D P07858 | Cathepsin B P10909 | Clusterin P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein P10636 | Tau P01023 | Alpha-2-macroglobulin P05231 | Interleukin-6 Link to Amyloidosis: No information available // ID: 2 Disease Name: Diabetes Mellitus, Type 2 Description: A subclass of diabetes mellitus that is not insulin-responsive or dependent (NIDDM). It is characterized initially by insulin resistance and hyperinsulinemia; and eventually by glucose intolerance; hyperglycemia; and overt diabetes. Type II diabetes mellitus is no longer considered a disease exclusively found in adults. Patients seldom develop ketosis but often exhibit obesity. Disease Type: Amyloidosis ICD-10 Classification: Endocrine, Nutritional and Metabolic Diseases Tissue: Pancreas (Islets of Langerhans) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E11 https://meshb.nlm.nih.gov/record/ui?ui=D003924 https://www.omim.org/entry/125853 https://www.ncbi.nlm.nih.gov/pubmed/3296768 https://www.ncbi.nlm.nih.gov/pubmed/3535798 https://www.ncbi.nlm.nih.gov/pubmed/2668761 https://www.ncbi.nlm.nih.gov/pubmed/3317417 https://www.ncbi.nlm.nih.gov/pubmed/26636105 Alternative Names: Diabetes Mellitus, Adult-Onset Diabetes Mellitus, Ketosis-Resistant Diabetes Mellitus, Maturity-Onset Diabetes Mellitus, Non Insulin Dependent Diabetes Mellitus, Non-Insulin-Dependent Diabetes Mellitus, Noninsulin Dependent Diabetes Mellitus, Noninsulin-Dependent Diabetes Mellitus, Slow-Onset Diabetes Mellitus, Stable Diabetes Mellitus, Type II MODY Maturity-Onset Diabetes Maturity-Onset Diabetes Mellitus NIDDM Noninsulin-Dependent Diabetes Mellitus Type 2 Diabetes Type 2 Diabetes Mellitus Non-insulin-dependent diabetes mellitus Precursor Proteins: P10997 | Islet amyloid polypeptide Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein Link to Amyloidosis: No information available // ID: 3 Disease Name: Huntington Disease Description: A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive chorea and dementia in the fourth or fifth decade of life. Common initial manifestations include paranoia; poor impulse control; depression; hallucinations; and delusions. Eventually intellectual impairment; loss of fine motor control; athetosis; and diffuse chorea involving axial and limb musculature develops, leading to a vegetative state within 10-15 years of disease onset. The juvenile variant has a more fulminant course including seizures; ataxia; dementia; and chorea. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/G10 https://meshb.nlm.nih.gov/record/ui?ui=D006816 https://www.omim.org/entry/143100 https://www.ncbi.nlm.nih.gov/pubmed/9267034 https://www.ncbi.nlm.nih.gov/pubmed/10410676 https://www.ncbi.nlm.nih.gov/pubmed/21163446 Alternative Names: Akinetic-Rigid Variant of Huntington Disease Chorea, Chronic Progressive Hereditary (Huntington) Chronic Progressive Hereditary Chorea (Huntington) Huntington Chorea Huntington Chronic Progressive Hereditary Chorea Huntington Disease, Akinetic-Rigid Variant Huntington Disease, Juvenile Huntington Disease, Juvenile-Onset Huntington Disease, Late Onset Huntington's Chorea Huntington's Disease Juvenile Huntington Disease Juvenile-Onset Huntington Disease Late-Onset Huntington Disease Progressive Chorea, Chronic Hereditary (Huntington) Progressive Chorea, Hereditary, Chronic (Huntington) Precursor Proteins: P42858 | Huntingtin Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 4 Disease Name: Parkinson Disease Description: A progressive, degenerative neurologic disease characterized by a tremor that is maximal at rest, retropulsion (i.e. a tendency to fall backwards), rigidity, stooped posture, slowness of voluntary movements, and a masklike facial expression. Pathologic features include loss of melanin containing neurons in the substantia nigra and other pigmented nuclei of the brainstem. Lewy bodies are present in the substantia nigra and locus coeruleus but may also be found in a related condition (lewy body disease, diffuse) characterized by dementia in combination with varying degrees of parkinsonism. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/G20 https://meshb.nlm.nih.gov/record/ui?ui=D010300 https://www.omim.org/entry/168600 https://www.ncbi.nlm.nih.gov/pubmed/2357270 https://www.ncbi.nlm.nih.gov/pubmed/10704204 https://www.ncbi.nlm.nih.gov/pubmed/9600990 https://www.ncbi.nlm.nih.gov/pubmed/29191831 Alternative Names: Idiopathic Parkinson Disease Idiopathic Parkinson's Disease Lewy Body Parkinson Disease Lewy Body Parkinson's Disease Paralysis Agitans Parkinson Disease, Idiopathic Parkinson's Disease Parkinson's Disease, Idiopathic Parkinson's Disease, Lewy Body Primary Parkinsonism Parkinson Disease, Late-Onset Precursor Proteins: P37840 | Alpha-synuclein Co-deposited Proteins: O00468 | Agrin P27348 | 14-3-3 protein theta P46821 | Microtubule-associated protein 1B P61981 | 14-3-3 protein gamma P62258 | 14-3-3 protein epsilon P63104 | 14-3-3 protein zeta/delta Q9Y6H5 | Synphilin-1 Link to Amyloidosis: No information available // ID: 5 Disease Name: Creutzfeldt-Jakob Syndrome Description: A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ataxia; aphasia, visual loss, weakness, muscle atrophy, myoclonus, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with encephalopathy, bovine spongiform) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of prions. Disease Type: Amyloidosis ICD-10 Classification: Certain Infectious and Parasitic Diseases Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/A81 https://meshb.nlm.nih.gov/record/ui?ui=D007562 https://www.omim.org/entry/123400 https://www.ncbi.nlm.nih.gov/pubmed/3092727 https://www.ncbi.nlm.nih.gov/pubmed/19571726 Alternative Names: CJD (Creutzfeldt-Jakob Disease) Creutzfeldt Jacob Disease Creutzfeldt-Jakob Disease, Familial Creutzfeldt-Jakob Disease, New Variant Creutzfeldt-Jakob Disease, Variant Familial Creutzfeldt-Jakob Disease Jakob-Creutzfeldt Disease Jakob-Creutzfeldt Syndrome New Variant Creutzfeldt-Jakob Disease Spongiform Encephalopathy, Subacute V-CJD (Variant-Creutzfeldt-Jakob Disease) Variant Creutzfeldt-Jakob Disease Precursor Proteins: P04156 | Major prion protein Co-deposited Proteins: P01024 | Complement C3 P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P02745 | Complement C1q subcomponent subunit A P02746 | Complement C1q subcomponent subunit B P02747 | Complement C1q subcomponent subunit C P63104 | 14-3-3 protein zeta/delta Link to Amyloidosis: No information available // ID: 6 Disease Name: Kuru Description: A prion disease found exclusively among the Fore linguistic group natives of the highlands of New Guinea. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. Disease Type: Amyloidosis ICD-10 Classification: Certain Infectious and Parasitic Diseases Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/A81 https://meshb.nlm.nih.gov/record/ui?ui=D007729 https://www.omim.org/entry/245300 https://www.ncbi.nlm.nih.gov/pubmed/9034563 Alternative Names: Encephalopathy, Kuru Kuru Encephalopathy Precursor Proteins: P04156 | Major prion protein Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 7 Disease Name: Gerstmann-Straussler-Scheinker Disease Description: An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ataxia, spastic paraparesis, extrapyramidal signs, and dementia. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration. Disease Type: Amyloidosis ICD-10 Classification: Certain Infectious and Parasitic Diseases Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/A81 https://meshb.nlm.nih.gov/record/ui?ui=D016098 https://www.omim.org/entry/137440 https://www.ncbi.nlm.nih.gov/pubmed/7445983 https://www.ncbi.nlm.nih.gov/pubmed/1672107 https://www.ncbi.nlm.nih.gov/pubmed/17278997 Alternative Names: Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type Gerstmann-Straussler Disease Gerstmann-Straussler Inherited Spongiform Encephalopathy Gerstmann-Straussler Syndrome Gerstmann-Straussler-Scheinker Syndrome Inherited Spongiform Encephalopathy, Gerstmann-Straussler Subacute spongiform encephalopathy, Gerstmann-Straussler type Precursor Proteins: P04156 | Major prion protein Co-deposited Proteins: P05067 | Amyloid-beta A4 protein P62258 | 14-3-3 protein epsilon Link to Amyloidosis: No information available // ID: 8 Disease Name: Immunoglobulin Light-chain Amyloidosis Description: A nonproliferative disorder of the plasma cell characterized by excessive production and misfolding of immunoglobulin light chains that form insoluble amyloid fibrils (see amyloid deposits) in various tissues. Clinical features include liver failure; multiple myeloma; nephrotic syndrome; restrictive cardiomyopathy, and neuropathies. Disease Type: Amyloidosis ISA Name: AL Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney, Heart, Peripheral Nervous System (PNS), Autonomic Nervous System (ANS), Liver, Gastrointestinal Tract, Lung, Soft Tissues, Urinary Tract, Larynx Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://meshb.nlm.nih.gov/record/ui?ui=D000075363 https://www.ncbi.nlm.nih.gov/pubmed/4102463 https://www.ncbi.nlm.nih.gov/pubmed/22335280 https://www.ncbi.nlm.nih.gov/pubmed/1565488 https://www.ncbi.nlm.nih.gov/pubmed/5011672 https://www.ncbi.nlm.nih.gov/pubmed/2813458 https://www.ncbi.nlm.nih.gov/pubmed/24082415 https://www.ncbi.nlm.nih.gov/pubmed/11126834 Alternative Names: Amyloidosis, Immunoglobulin Light-chain Amyloidosis, Primary Primary Amyloidosis Primary Systemic Amyloidosis Light-chain amyloidosis Light Chain Associated Amyloidosis Immunoglobulin light chain (AL) amyloidosis Light chain (AL) amyloidosis Precursor Proteins: P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P02751 | Fibronectin P25391 | Laminin subunit alpha-1 P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein Link to Amyloidosis: No information available // ID: 9 Disease Name: Hereditary Cerebral Amyloid Angiopathy, Icelandic Type Description: A familial disorder marked by amyloid deposits in the walls of small and medium sized blood vessels of cerebral cortex and meninges. Disease Type: Amyloidosis ISA Name: ACys Amyloidosis ICD-10 Classification: Diseases of the Circulatory System Tissue: Central Nervous System (CNS), Skin, Lymph Node, Spleen, Salivary Gland, Seminal Vesicle Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/I68 https://meshb.nlm.nih.gov/record/ui?ui=D028243 https://www.omim.org/entry/105150 https://www.ncbi.nlm.nih.gov/pubmed/4655034 https://www.ncbi.nlm.nih.gov/pubmed/6886625 https://www.ncbi.nlm.nih.gov/pubmed/10842708 Alternative Names: Amyloidosis VI Amyloidosis, Cerebroarterial, Icelandic Type Autosomal Dominant Cerebrovascular Amyloidosis Cerebral Amyloid Angiopathy, Cst3-Related Cerebral Amyloid Angiopathy, Genetic Cerebral Amyloid Angiopathy, Hereditary Cerebral Hemorrhage, Hereditary, With Amyloidosis Familial Cerebral Amyloid Angiopathy HCHWA-I Hereditary Cerebral Amyloid Angiopathy Hereditary Cerebral Amyloid Angiopathy, Icelandic Type Hereditary Cerebral Hemorrhage With Amyloidosis Icelandic Type Amyloidosis Icelandic Type Hereditary Cerebral Amyloid Angiopathy HCCAA-I Hereditary Cystatin C Amyloid Angiopathy Precursor Proteins: P01034 | Cystatin-C Co-deposited Proteins: P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 10 Disease Name: Dementia, familial British Description: Disease Type: Amyloidosis ISA Name: ABri Amyloidosis ICD-10 Classification: Diseases of the Circulatory System Tissue: Central Nervous System (CNS), Pancreas, Heart Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/I68 https://meshb.nlm.nih.gov/record/ui?ui=C538208 https://www.omim.org/entry/176500 https://www.ncbi.nlm.nih.gov/pubmed/2364266 https://www.ncbi.nlm.nih.gov/pubmed/7751849 https://www.ncbi.nlm.nih.gov/pubmed/10391242 https://www.ncbi.nlm.nih.gov/pubmed/11193180 https://www.ncbi.nlm.nih.gov/pubmed/11159188 Alternative Names: Cerebral Amyloid Angiopathy, Itm2b-Related, 1 Cerebral amyloid angiopathy, British type Presenile dementia with spastic ataxia Familial dementia, British type Dementia Familial British Bri Amyloidosis Familial British Dementia (FBD) Precursor Proteins: Q9Y287 | Integral membrane protein 2B Co-deposited Proteins: O00468 | Agrin O75056 | Syndecan-3 P01011 | Alpha-1-antichymotrypsin P01034 | Cystatin-C P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P10909 | Clusterin P18827 | Syndecan-1 P34741 | Syndecan-2 P35052 | Glypican-1 P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein Link to Amyloidosis: No information available // ID: 11 Disease Name: Dementia, familial Danish Description: Disease Type: Amyloidosis ISA Name: ADan Amyloidosis ICD-10 Classification: Diseases of the Circulatory System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/I68 https://meshb.nlm.nih.gov/record/ui?ui=C538209 https://www.omim.org/entry/117300 https://www.ncbi.nlm.nih.gov/pubmed/10781099 https://www.ncbi.nlm.nih.gov/pubmed/11895040 https://www.ncbi.nlm.nih.gov/pubmed/14690516 Alternative Names: Dementia, familial Danish Cerebral Amyloid Angiopathy, Itm2b-Related, 2 Familial Danish dementia Heredopathia ophthalmootoencephalica Familial dementia, Danish type Familial Danish Dementia (FDD) HOOE Cerebellar ataxia, cataract, deafness, and dementia or psychosis Precursor Proteins: Q9Y287 | Integral membrane protein 2B Co-deposited Proteins: O00468 | Agrin O75056 | Syndecan-3 P01011 | Alpha-1-antichymotrypsin P01034 | Cystatin-C P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P05067 | Amyloid-beta A4 protein P10909 | Clusterin P18827 | Syndecan-1 P34741 | Syndecan-2 P35052 | Glypican-1 P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein Link to Amyloidosis: No information available // ID: 12 Disease Name: Cerebral Amyloid Angiopathy, APP-related Description: Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Circulatory System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/I68 https://meshb.nlm.nih.gov/record/ui?ui=C537944 https://www.omim.org/entry/605714 https://www.ncbi.nlm.nih.gov/pubmed/3475718 https://www.ncbi.nlm.nih.gov/pubmed/7131028 https://www.ncbi.nlm.nih.gov/pubmed/19225789 Alternative Names: Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant Cerebral Amyloid Angiopathy, App-Related Cerebral Amyloid Angiopathy, App-Related, Arctic Variant Cerebral Amyloid Angiopathy, App-Related, Dutch Variant Cerebral Amyloid Angiopathy, App-Related, Flemish Variant Cerebral Amyloid Angiopathy, App-Related, Iowa Variant Cerebral Amyloid Angiopathy, App-Related, Italian Variant Cerebral hemorrhage with amyloidosis, hereditary, Dutch type Dutch Type Hereditary Cerebral Amyloid Angiopathy HCHWAD Hereditary Cerebral Amyloid Angiopathy, Dutch Type Amyloidosis, Cerebroarterial, App-Related ABeta amyloidosis, Dutch type ABetaE22Q amyloidosis HCHWA, Dutch type HCHWA-D Hereditary Cerebral Hemorrhage with Amyloidosis, Dutch type Precursor Proteins: P05067 | Amyloid-beta A4 protein Co-deposited Proteins: P01011 | Alpha-1-antichymotrypsin P01034 | Cystatin-C P02649 | Apolipoprotein E P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 13 Disease Name: Down Syndrome Description: A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe intellectual disability. Cardiac and gastrointestinal malformations, a marked increase in the incidence of leukemia, and the early onset of Alzheimer disease are also associated with this condition. Pathologic features include the development of neurofibrillary tangles in neurons and the deposition of amyloid beta-protein, similar to the pathology of Alzheimer disease. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Chromosomal Abnormalities Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/Q90 https://meshb.nlm.nih.gov/record/ui?ui=D004314 https://www.omim.org/entry/190685 https://www.ncbi.nlm.nih.gov/pubmed/2522541 https://www.ncbi.nlm.nih.gov/pubmed/3159021 https://www.ncbi.nlm.nih.gov/pubmed/11300721 https://www.ncbi.nlm.nih.gov/pubmed/26362596 Alternative Names: 47,XX,+21 47,XY,+21 Down Syndrome, Partial Trisomy 21 Down's Syndrome Mongolism Partial Trisomy 21 Down Syndrome Trisomy 21 Trisomy 21, Meiotic Nondisjunction Trisomy 21, Mitotic Nondisjunction Trisomy G DS Precursor Proteins: P05067 | Amyloid-beta A4 protein Co-deposited Proteins: P01034 | Cystatin-C P02649 | Apolipoprotein E P02745 | Complement C1q subcomponent subunit A P02746 | Complement C1q subcomponent subunit B P02747 | Complement C1q subcomponent subunit C Link to Amyloidosis: http://83.212.109.111:8084/amyco/1 // ID: 14 Disease Name: Amyotrophic Lateral Sclerosis 1 Description: A degenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord. Disease onset is usually after the age of 50 and the process is usually fatal within 3 to 6 years. Clinical manifestations include progressive weakness, atrophy, fasciculation, hyperreflexia, dysarthria, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous astrocytes and atrophy of anterior spinal nerve roots and corticospinal tracts. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/G12 https://meshb.nlm.nih.gov/record/ui?ui=D000690 https://www.omim.org/entry/105400 https://www.ncbi.nlm.nih.gov/pubmed/19022905 https://www.ncbi.nlm.nih.gov/pubmed/19271992 Alternative Names: ALS (Amyotrophic Lateral Sclerosis) Amyotrophic Lateral Sclerosis With Dementia Amyotrophic Lateral Sclerosis, Guam Form Amyotrophic Lateral Sclerosis, Parkinsonism-Dementia Complex of Guam Amyotrophic Lateral Sclerosis-Parkinsonism-Dementia Complex 1 Charcot Disease Dementia With Amyotrophic Lateral Sclerosis Gehrig's Disease Guam Disease Guam Form of Amyotrophic Lateral Sclerosis Lou Gehrig Disease Lou Gehrig's Disease Lou-Gehrigs Disease Motor Neuron Disease, Amyotrophic Lateral Sclerosis Amyotrophic lateral sclerosis 1, Familial FALS Amyotrophic lateral sclerosis 1, Autosomal dominant Precursor Proteins: P00441 | Superoxide dismutase [Cu-Zn] Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 15 Disease Name: Prolactinoma Description: A pituitary adenoma which secretes prolactin, leading to hyperprolactinemia. Clinical manifestations include amenorrhea; galactorrhea; impotence; headache; visual disturbances; and cerebrospinal fluid rhinorrhea. Disease Type: Amyloidosis ICD-10 Classification: Neoplasms Tissue: Pituitary Gland Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/C75 https://meshb.nlm.nih.gov/record/ui?ui=D015175 https://www.omim.org/entry/600634 https://www.ncbi.nlm.nih.gov/pubmed/9006323 Alternative Names: Adenoma, Prolactin-Secreting, Pituitary Lactotroph Adenoma Macroprolactinoma Microprolactinoma PRL-Secreting Pituitary Adenoma Pituitary Adenoma, Prolactin-Secreting Prolactin-Producing Pituitary Adenoma Prolactin-Secreting Pituitary Adenoma Prolactinoma, Familial Pitutary prolactinoma Precursor Proteins: P01236 | Prolactin Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 16 Disease Name: Localized insulin-derived Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AIns Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Insulin injection site Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/3286343 https://www.ncbi.nlm.nih.gov/pubmed/6337294 https://www.ncbi.nlm.nih.gov/pubmed/24462809 Alternative Names: Injection-localized amyloidosis Localized A-Ins amyloidosis Ains-derived amyloidosis Insulin-derived amyloidosis LIDA Precursor Proteins: P01308 | Insulin Co-deposited Proteins: P02647 | Apolipoprotein A-I P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P06727 | Apolipoprotein A-IV Link to Amyloidosis: No information available // ID: 17 Disease Name: Apolipoprotein A-I associated Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AApoAI Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Heart, Liver, Skin, Kidney, Intestine, Larynx, Uterus, Ovary Lymph Node, Pelvic Lymph Node Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.omim.org/entry/105200 https://www.ncbi.nlm.nih.gov/pubmed/3142462 https://www.ncbi.nlm.nih.gov/pubmed/11266606 Alternative Names: Apolipoprotein A-I amyloidosis Familial amyloid nephropathy due to apolipoprotein A-I variant Familial renal amyloidosis due to apolipoprotein A-I variant Hereditary amyloid nephropathy due to apolipoprotein A-I variant Hereditary renal amyloidosis due to apolipoprotein A-I variant Amyloid Polyneuropathy, Iowa Type Familial Amyloid Polyneuropathy, Type III Type III Familial Amyloid Polyneuropathy Iowa Type Amyloid Polyneuropathy Non-neuropathic apolipoprotein A-I amyloidosis Apolipoprotein AI-derived amyloidosis Hereditary apoliporpotein AI-induced amyloidosis Hereditary apoliporpotein AI-associated amyloidosis Amyloidosis VIII Ostertag Type Amyloidosis German Type Amyloidosis Amyloidosis, Familial renal Amyloidosis, Familial visceral Amyloidosis, Systemic Non-neuropathic Precursor Proteins: P02647 | Apolipoprotein A-I Co-deposited Proteins: P01009 | Alpha-1-antitrypsin P02743 | Serum amyloid P-component P02766 | Transthyretin P02768 | Serum albumin P25311 | Zinc-alpha-2-glycoprotein P60709 | Actin, cytoplasmic 1 P68104 | Elongation factor 1-alpha 1 P68871 | Hemoglobin subunit beta P69905 | Hemoglobin subunit alpha P81605 | Dermcidin Q9GZZ8 | Extracellular glycoprotein lacritin Link to Amyloidosis: No information available // ID: 18 Disease Name: Meretoja Syndrome Description: Disease Type: Amyloidosis ISA Name: AGel Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Central Nervous System (CNS), Peripheral Nervous System (PNS), Eye, Skin, Smooth Muscles, Skeletal Muscles, Heart, Kidney Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://meshb.nlm.nih.gov/record/ui?ui=C537459 https://www.omim.org/entry/105120 https://www.ncbi.nlm.nih.gov/pubmed/2157434 https://www.ncbi.nlm.nih.gov/pubmed/2153578 https://www.ncbi.nlm.nih.gov/pubmed/1338910 https://www.ncbi.nlm.nih.gov/pubmed/2175344 https://www.ncbi.nlm.nih.gov/pubmed/4313418 https://www.ncbi.nlm.nih.gov/pubmed/9547007 Alternative Names: Amyloid cranial neuropathy with lattice corneal dystrophy Amyloidosis 5 Amyloidosis V Amyloidosis due to mutant gelsolin Amyloidosis, Finnish Type Amyloidosis, Meretoja Type Cerebral Amyloid Angiopathy, Gsn-Related Corneal Dystrophy, Lattice Type II Familial Amyloid Polyneuropathy Type IV Familial Amyloidosis, Finnish Type Finnish type amyloidosis Gelsolin-Related Amyloidosis Kymenlaakso Syndrome Lattice Corneal Dystrophy Type II Lattice Corneal Dystrophy, Gelsolin Type Lattice Corneal Dystrophy, Type II Lattice corneal dystrophy associated with familial systemic amyloidosis Lattice dystrophy of the cornea with hereditary generalized amyloidosis Meretoja type amyloidosis Meretoja's syndrome Meretoja syndrome Gelsolin amyloidosis Hereditary amyloidosis, Finnish type Meretoja Type Meretoja's disease Hereditary Gelsolin Amyloidosis (HGA) Familial Amyloid Polyneuropathy, Type IV Familial Amyloid Neuropathy, Finnish Type Finnish Type Familial Amyloid Neuropathy Type IV Familial Amyloid Polyneuropathy Precursor Proteins: P06396 | Gelsolin Co-deposited Proteins: P01009 | Alpha-1-antitrypsin P01024 | Complement C3 P01034 | Cystatin-C P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P02748 | Complement component C9 P62736 | Actin, aortic smooth muscle Link to Amyloidosis: No information available // ID: 19 Disease Name: Hereditary fibrinogen A alpha-chain Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AFib Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney, Liver, Heart, Spleen Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.omim.org/entry/105200 https://www.ncbi.nlm.nih.gov/pubmed/8097946 https://www.ncbi.nlm.nih.gov/pubmed/8113408 https://www.ncbi.nlm.nih.gov/pubmed/19633201 Alternative Names: Fibrinogen A a-associated amyloidosis Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant Fibrinogen A alpha-chain amyloidosis Familial amyloid nephropathy due to fibrinogen A alpha-chain variant Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant Amyloidosis VIII Ostertag Type Amyloidosis German Type Amyloidosis Amyloidosis, Familial renal Amyloidosis, Familial visceral Amyloidosis, Systemic Non-neuropathic Precursor Proteins: P02671 | Fibrinogen alpha chain Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 20 Disease Name: Hereditary lysozyme Amyloidosis Description: Disease Type: Amyloidosis ISA Name: ALys Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Liver, Kidney, Gastrointestinal Tract, Spleen, Lymph Node, Skin, Lachrymal Gland, Salivary Gland, Heart Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.omim.org/entry/105200 https://www.ncbi.nlm.nih.gov/pubmed/8464497 https://www.ncbi.nlm.nih.gov/pubmed/28963698 https://www.ncbi.nlm.nih.gov/pubmed/25217048 https://www.ncbi.nlm.nih.gov/pubmed/21988333 Alternative Names: Familial amyloid nephropathy due to lysozyme variant Familial renal amyloidosis due to lysozyme variant Hereditary amyloid nephropathy due to lysozyme variant Hereditary renal amyloidosis due to lysozyme variant Lysozyme amyloidosis Hereditary Lysozyme Amyloidosis Amyloidosis VIII Ostertag Type Amyloidosis German Type Amyloidosis Amyloidosis, Familial renal Amyloidosis, Familial visceral Amyloidosis, Systemic Non-neuropathic Precursor Proteins: P61626 | Lysozyme C Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 21 Disease Name: Thyroid Cancer, Medullary Description: A neuroendocrine carcinoma that originates in the c-cells of the thyroid gland; about 10-20% of cases are familial. It occurs sporadically or is associated with multiple endocrine neoplasia syndromes. Germline and somatic mutations in RET and NTRK1 genes have been identified. Disease Type: Amyloidosis ICD-10 Classification: Neoplasms Tissue: C-cell thyroid tumors Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/D09 https://meshb.nlm.nih.gov/record/ui?ui=C536914 https://www.omim.org/entry/155240 https://www.ncbi.nlm.nih.gov/pubmed/56421 https://www.ncbi.nlm.nih.gov/pubmed/15459123 Alternative Names: Medullary thyroid cancer (MTC) Thyroid carcinoma, medullary Medullary Carcinoma of the Thyroid (MCT) Medullary Thyroid Carcinoma Thyroid carcinoma, Familial medullary Familial medullary thyroid carcinoma FMTC MTC1 Precursor Proteins: P01258 | Calcitonin Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P05060 | Secretogranin-1 P06727 | Apolipoprotein A-IV P10092 | Calcitonin gene-related peptide 2 Link to Amyloidosis: No information available // ID: 22 Disease Name: Apolipoprotein A-II associated Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AApoAII Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/11401442 https://www.ncbi.nlm.nih.gov/pubmed/14986481 https://www.ncbi.nlm.nih.gov/pubmed/21728005 https://www.ncbi.nlm.nih.gov/pubmed/24561203 Alternative Names: Apolipoprotein A-II amyloidosis Familial amyloid nephropathy due to apolipoprotein A-II variant Familial renal amyloidosis due to apolipoprotein A-II variant Hereditary amyloid nephropathy due to apolipoprotein A-II variant Hereditary renal amyloidosis due to apolipoprotein A-II variant Hereditary apolipoprotein AII amyloidosis Apolipoprotein AII-induced amyloidosis Precursor Proteins: P02652 | Apolipoprotein A-II Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P06727 | Apolipoprotein A-IV P60709 | Actin, cytoplasmic 1 Link to Amyloidosis: No information available // ID: 23 Disease Name: AH Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AH Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney, Lung, Eye (orbit), Heart Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/2118650 https://www.ncbi.nlm.nih.gov/pubmed/8141123 https://www.ncbi.nlm.nih.gov/pubmed/7874834 https://www.ncbi.nlm.nih.gov/pubmed/16632032 Alternative Names: Heavy chain amyloidosis Immunoglobulin heavy chain amyloidosis Precursor Proteins: P0DOX4 | Immunoglobulin epsilon heavy chain P0DOX5 | Immunoglobulin gamma-1 heavy chain P0DOX6 | Immunoglobulin mu heavy chain P0DOX2 | Immunoglobulin alpha-2 heavy chain Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 24 Disease Name: AHL Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AHL Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Lung, Kidney, Heart Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/16021505 https://www.ncbi.nlm.nih.gov/pubmed/16810284 https://www.ncbi.nlm.nih.gov/pubmed/23302715 Alternative Names: Heavy/light-chain amyloidosis Heavy- and light-chain amyloidosis Immunoglobulin Heavy and Light Chain Amyloidosis Precursor Proteins: P0DOX4 | Immunoglobulin epsilon heavy chain P0DOX5 | Immunoglobulin gamma-1 heavy chain P0DOX6 | Immunoglobulin mu heavy chain P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain P0DOX2 | Immunoglobulin alpha-2 heavy chain Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 25 Disease Name: Apolipoprotein C-II associated Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AApoCII Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/27297947 https://www.ncbi.nlm.nih.gov/pubmed/27840752 Alternative Names: Apolipoprotein-CII amyloidosis Precursor Proteins: P02655 | Apolipoprotein C-II Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P06727 | Apolipoprotein A-IV Link to Amyloidosis: No information available // ID: 26 Disease Name: Apolipoprotein C-III associated Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AApoCIII Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney, Spleen, Salivary Gland, Intestine, Heart Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/26790392 Alternative Names: Apolipoprotein-CIII amyloidosis Precursor Proteins: P02656 | Apolipoprotein C-III Co-deposited Proteins: P02647 | Apolipoprotein A-I P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P06727 | Apolipoprotein A-IV Link to Amyloidosis: No information available // ID: 27 Disease Name: Leukocyte chemotactic factor 2 Amyloidosis Description: Disease Type: Amyloidosis ISA Name: ALECT2 Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Liver, Kidney, Prostate, Parathyroid Gland, Lung, Pancreas, Small Intestine Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/18449172 https://www.ncbi.nlm.nih.gov/pubmed/25873265 https://www.ncbi.nlm.nih.gov/pubmed/27959636 Alternative Names: Lect2 amyloidosis Leukocyte chemotactic factor 2 amyloidosis Leukocyte chemotactic factor 2-associated amyloidosis Leukocyte cell-derived chemotaxin-2 amyloidosis Precursor Proteins: O14960 | Leukocyte cell-derived chemotaxin-2 Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 28 Disease Name: Apolipoprotein A-IV associated Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AApoAIV Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney, Heart, Intestine, Lung, Skin Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/21900878 https://www.ncbi.nlm.nih.gov/pubmed/27262366 Alternative Names: Apolipoprotein A-IV amyloidosis Apolipoprotein A-IV induced amyloidosis Precursor Proteins: P06727 | Apolipoprotein A-IV Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 29 Disease Name: AA Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AA Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Kidney, Liver, Spleen, Heart, Gastrointestinal Tract, Lung, Adrenal Gland Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/5055786 https://www.ncbi.nlm.nih.gov/pubmed/5096367 https://www.ncbi.nlm.nih.gov/pubmed/11946204 https://www.ncbi.nlm.nih.gov/pubmed/4816450 https://www.ncbi.nlm.nih.gov/pubmed/10036584 https://www.ncbi.nlm.nih.gov/pubmed/4198200 https://www.ncbi.nlm.nih.gov/pubmed/4205522 https://www.ncbi.nlm.nih.gov/pubmed/25387054 Alternative Names: Inflammatory amyloidosis Reactive amyloidosis Secondary amyloidosis Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein Q08431 | Lactadherin Link to Amyloidosis: No information available // ID: 30 Disease Name: Wild-type transthyretin-related Amyloidosis Description: Disease Type: Amyloidosis ISA Name: ATTRwt Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Heart, Lung Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/6507586 https://www.ncbi.nlm.nih.gov/pubmed/2320592 https://www.ncbi.nlm.nih.gov/pubmed/7244554 https://www.ncbi.nlm.nih.gov/pubmed/7033114 https://www.ncbi.nlm.nih.gov/pubmed/14640042 Alternative Names: ATTRwt-related amyloidosis SSA Senile systemic amyloidosis wild-type ATTR (ATTRwt) amyloidosis Precursor Proteins: P02766 | Transthyretin Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 31 Disease Name: Amyloidosis, Hereditary, Transthyretin-Related Description: Hereditary disorder characterized by amyloid deposits in the extracellular matrix of different tissues. Patients present polyneuropathy; carpal tunnel syndrome, autonomic insufficiency, cardiomyopathy, and gastrointestinal symptoms. A dominant mutation (V30M) in the TTR gene has been identified.  Disease Type: Amyloidosis ISA Name: ATTRv Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Peripheral Nervous System (PNS), Kidney, Autonomic Nervous System (ANS), Eye, Gastrointestinal Tract, Heart Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://meshb.nlm.nih.gov/record/ui?ui=C567782 https://www.omim.org/entry/105210 https://www.ncbi.nlm.nih.gov/pubmed/279930 https://www.ncbi.nlm.nih.gov/pubmed/6208668 https://www.ncbi.nlm.nih.gov/pubmed/2646319 https://www.ncbi.nlm.nih.gov/pubmed/28213611 https://www.ncbi.nlm.nih.gov/pubmed/25044787 Alternative Names: Familial Transthyretin Cardiac Amyloidosis Hereditary Amyloidosis, Transthyretin-Related Transthyretin Amyloidosis Familial amyloid polyneuropathy type I (Portuguese-Swedish-Japanese Type) TTR amyloid neuropathy Transthyretin amyloid polyneuropathy Familial amyloid polyneuropathy (FAP) Familial Oculoleptomeningeal Amyloidosis FOLMA Leptomeningeal Amyloidosis ATTR cardiomyopathy TTR-related amyloid cardiomyopathy TTR-related cardiac amyloidosis Transthyretin amyloid cardiopathy Transthyretin-related familial amyloid cardiomyopathy Amyloid polyneuropathy, familial Appalachian Type Familial Amyloid Polyneuropathy Familial Amyloid Neuropathy, Andrade Type Amyloid Neuropathy Type 1 Amyloid Polyneuropathy, Swiss Type Amyloid Polyneuropathy, British Type British Type Amyloid Polyneuropathy Familial Amyloid Neuropathy, Portuguese Type Familial Amyloid Polyneuropathy, Appalachian Type Familial Amyloid Polyneuropathy, Jewish Type Familial Amyloid Polyneuropathy, Jewish Type I Familial Amyloid Polyneuropathy, Type II Familial Portuguese Polyneuritic Amyloidosis Jewish Type Familial Amyloid Polyneuropathy Polyneuritic Amyloidosis, Portuguese Portuguese Polyneuritic Amyloidosis Portuguese Type Familial Amyloid Neuropathy Swiss Type Amyloid Polyneuropathy Type I Familial Amyloid Polyneuropathy Type II Familial Amyloid Polyneuropathy Wohlwill-Andrade Syndrome Wohlwill-Corino Andrade Syndrome Transthyretin amyloid neuropathy Hereditary transthyretin-related amyloidosis Precursor Proteins: P02766 | Transthyretin Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 32 Disease Name: Gout Description: Metabolic disorder characterized by recurrent acute arthritis, hyperuricemia and deposition of sodium urate in and around the joints, sometimes with formation of uric acid calculi. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney, Liver, Gastrointestinal Tract Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/M10 https://meshb.nlm.nih.gov/record/ui?ui=D006073 https://www.ncbi.nlm.nih.gov/pubmed/7458437 https://www.ncbi.nlm.nih.gov/pubmed/4087259 https://www.ncbi.nlm.nih.gov/pubmed/3073036 https://www.ncbi.nlm.nih.gov/pubmed/10088952 https://www.ncbi.nlm.nih.gov/pubmed/17065112 https://www.ncbi.nlm.nih.gov/pubmed/28538281 Alternative Names: null Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 33 Disease Name: Wild type beta-2-microglobulin-related Amyloidosis Description: Disease Type: Amyloidosis ISA Name: Aβ2Mwt Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Musculoskeletal system Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/3537446 https://www.ncbi.nlm.nih.gov/pubmed/3893430 https://www.ncbi.nlm.nih.gov/pubmed/11148456 https://www.ncbi.nlm.nih.gov/pubmed/29268797 https://www.ncbi.nlm.nih.gov/pubmed/27959636 Alternative Names: Dialysis-related amyloidosis Dialysis-related arthropathy Wild type ABeta2-microglobulinic amyloidosis Hemodialysis-related amyloidosis ABeta2M amyloidosis beta2-microglobulin-related amyloidosis beta2-microglobulin amyloidosis Beta-2-microglobulin amyloidosis Dialysis-Related Beta-2m Amyloidosis Precursor Protein: P61769 | Beta-2-microglobulin Co-deposited Proteins: P01023 | Alpha-2-macroglobulin P02649 | Apolipoprotein E P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 34 Disease Name: Lewy Body Disease Description: A neurodegenerative disease characterized by dementia, mild parkinsonism, and fluctuations in attention and alertness. The neuropsychiatric manifestations tend to precede the onset of bradykinesia, muscle rigidity, and other extrapyramidal signs. Delusions and visual hallucinations are relatively frequent in this condition. Histologic examination reveals lewy bodies in the cerebral cortex and brain stem. Senile plaques and other pathologic features characteristic of Alzheimer disease may also be present. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/G31 http://apps.who.int/classifications/icd10/browse/2016/en#/F02 https://meshb.nlm.nih.gov/record/ui?ui=D020961 https://www.omim.org/entry/127750 https://www.ncbi.nlm.nih.gov/pubmed/2683563 https://www.ncbi.nlm.nih.gov/pubmed/1436523 Alternative Names: Cortical Lewy Body Disease Dementia, Lewy Body Diffuse Lewy Body Disease Lewy Body Dementia Lewy Body Disease, Cortical Lewy Body Disease, Diffuse Lewy Body Type Senile Dementia Precursor Proteins: P05067 | Amyloid-beta A4 protein P37840 | Alpha-synuclein Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 35 Disease Name: Calcifying Epithelial Odontogenic Tumor Description: A rare slow growing, locally invasive odontogenic tumor. It most often grows intraosseously in the mandible and less frequently in the maxilla, and gingiva. It is characterized by the presence of a fibrous stroma, epithelial cells with abundant eosinophilic cytoplasm, and amyloid material which is often calcified. Disease Type: Amyloidosis ICD-10 Classification: Neoplasms Tissue: Mandible, Maxilla, Gingiva Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/D16 https://meshb.nlm.nih.gov/record/ui?ui=C537961 https://www.ncbi.nlm.nih.gov/pubmed/14647039 https://www.ncbi.nlm.nih.gov/pubmed/18484335 Alternative Names: Pindborg tumor CEOT Precursor Proteins: A1E959 | Odontogenic ameloblast-associated protein Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 36 Disease Name: Variably Protease-Sensitive Prionopathy Description: Disease Type: Amyloidosis ICD-10 Classification: Certain Infectious and Parasitic Diseases Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/A81 https://www.ncbi.nlm.nih.gov/pubmed/18571782 https://www.ncbi.nlm.nih.gov/pubmed/21584652 Alternative Names: Protease Sensitive Prionopathy VPSPr Precursor Proteins: P04156 | Major prion protein Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 37 Disease Name: Isolated Atrial Amyloidosis Description: Disease Type: Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Heart (Cardiac atria) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/2901160 https://www.ncbi.nlm.nih.gov/pubmed/15677530 Alternative Names: IAA Precursor Proteins: P01160 | Natriuretic peptides A Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 38 Disease Name: Lattice corneal dystrophy type 1 Description: A hereditary autosomal dominant form of corneal dystrophy with significant phenotypic variability. It is characterized by polymorphic geographic deposits at Bowman's membrane, lattice corneal dystrophy, recurrent corneal ulceration, and mild progressive visual impairment. Mutations in the TGBFI gene have been identified. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Eye and Adnexa Tissue: Eye Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/H18 https://meshb.nlm.nih.gov/record/ui?ui=C537881 https://www.omim.org/entry/122200 https://www.ncbi.nlm.nih.gov/pubmed/9657906 https://www.ncbi.nlm.nih.gov/pubmed/13814113 Alternative Names: Biber-Haab-Dimmer Dystrophy Corneal Dystrophy, Lattice Type I Corneal dystrophy, lattice type 1 Lattice Corneal Dystrophy Type I Lattice Corneal Dystrophy, Type I Classic lattice corneal dystrophy LCD1 LCDI LCD CDL1 Precursor Proteins: Q15582 | Transforming growth factor-beta-induced protein ig-h3 Co-deposited Proteins: P02649 | Apolipoprotein E P10909 | Clusterin Link to Amyloidosis: No information available // ID: 39 Disease Name: Insomnia, Fatal Familial Description: An autosomal dominant disorder characterized by degeneration of the thalamus and progressive insomnia. It is caused by a mutation in the prion protein (prions). Disease Type: Amyloidosis ICD-10 Classification: Certain Infectious and Parasitic Diseases Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/A81 https://meshb.nlm.nih.gov/record/ui?ui=D034062 https://www.omim.org/entry/600072 https://www.ncbi.nlm.nih.gov/pubmed/3762620 https://www.ncbi.nlm.nih.gov/pubmed/1346338 https://www.ncbi.nlm.nih.gov/pubmed/7654073 https://www.ncbi.nlm.nih.gov/pubmed/28324299 Alternative Names: Familial Fatal Insomnia Insomnia Familial Fatal Fatal Familial Disease Precursor Proteins: P04156 | Major prion protein Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 40 Disease Name: Medin Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AMed Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Thoracic aorta Cross References https://www.ncbi.nlm.nih.gov/pubmed/1562050 https://www.ncbi.nlm.nih.gov/pubmed/10411933 https://www.ncbi.nlm.nih.gov/pubmed/17679143 Alternative Names: Aortic medial amyloidosis Senile aortic amyloidosis Precursor Proteins: Q08431 | Lactadherin Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 41 Disease Name: Familial Mediterranean Fever Description: A group of hereditary autoinflammation diseases, characterized by recurrent fever, abdominal pain, headache, rash, pleurisy; and arthritis. Orchitis; benign meningitis; and amyloidosis may also occur. Homozygous or compound heterozygous mutations in marenostrin gene result in autosomal recessive transmission; simple heterozygous, autosomal dominant form of the disease. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney Cross References https://meshb.nlm.nih.gov/record/ui?ui=D010505 https://www.omim.org/entry/249100 https://www.ncbi.nlm.nih.gov/pubmed/14022004 https://www.ncbi.nlm.nih.gov/pubmed/5056669 https://www.ncbi.nlm.nih.gov/pubmed/3966749 https://www.ncbi.nlm.nih.gov/pubmed/10211405 https://www.ncbi.nlm.nih.gov/pubmed/16284730 Alternative Names: Benign Paroxysmal Peritonitis Familial Mediterranean Fever, Autosomal Recessive Familial Paroxysmal Polyserositis Mediterranean Fever, Familial Periodic Disease Periodic Disease, Wolff's Periodic Peritonitis Polyserositis, Familial Paroxysmal Polyserositis, Recurrent Recurrent Polyserositis Wolff Periodic Disease Wolff's Periodic Disease FMF Benign recurrent polyserositis Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 42 Disease Name: Amyloidosis, Primary Cutaneous Description: An autosomal dominant type of familial amyloidosis that is characterized by pruritis and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis. Mutations in the OSMR gene have been identified. Disease Type: Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Skin Cross References https://meshb.nlm.nih.gov/record/ui?ui=C562642 https://www.omim.org/entry/105250 https://www.omim.org/entry/613955 https://www.ncbi.nlm.nih.gov/pubmed/14329250 https://www.ncbi.nlm.nih.gov/pubmed/28342017 Alternative Names: Primary Localized Cutaneous Amyloidosis Familial primart localized cutaneous amyloidosis FPLCA Primary cutaneous amyloidosis Precursor Proteins: P02533 | Keratin, type I cytoskeletal 14 P04264 | Keratin, type II cytoskeletal 1 P13647 | Keratin, type II cytoskeletal 5 P25391 | Laminin subunit alpha-1 P47929 | Galectin-7 P60709 | Actin, cytoplasmic 1 P63261 | Actin, cytoplasmic 2 P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: P02649 | Apolipoprotein E P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 43 Disease Name: Corneal dystrophy, gelatinous drop-like Description: A hereditary autosomal recessive corneal dystrophy characterized by severe corneal amyloidosis leading to blindness. Clinical manifestations, which appear in the first decade of life, include blurred vision, photophobia, and foreign-body sensation. By the third decade, raised, yellowish-gray, gelatinous masses severely impair visual acuity, and corneal transplantation is required for most patients. Mutations in the TACSTD2 gene have been identified. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Eye and Adnexa Tissue: Eye Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/H18 https://meshb.nlm.nih.gov/record/ui?ui=C535480 https://www.omim.org/entry/204870 https://www.ncbi.nlm.nih.gov/pubmed/9418728 https://www.ncbi.nlm.nih.gov/pubmed/27913443 Alternative Names: Amyloid corneal dystrophy, Japanese type Amyloidosis, corneal Corneal Dystrophy, Lattice Type III Corneal amyloidosis Corneal dystrophy, Lattice type 3 Lattice Corneal Dystrophy, Type III Lattice corneal dystrophy type3 Primary familial amyloidosis of the cornea Familial subepithelial corneal amyloidosis CDGDL Precursor Proteins: P02788 | Lactotransferrin Co-deposited Proteins: P02649 | Apolipoprotein E P10909 | Clusterin Link to Amyloidosis: No information available // ID: 44 Disease Name: Corneal dystrophy Avellino type Description: A hereditary autosomal dominant corneal dystrophy that is characterized by the development of small granules on the stromal layer of the cornea which later develop into lesions with a lattice-like appearance. The lesions increase in size with age and may lead to decreased visual acuity. Mutations in the TGFBI gene have been identified. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Eye and Adnexa Tissue: Eye Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/H18 https://meshb.nlm.nih.gov/record/ui?ui=C535474 https://www.omim.org/entry/607541 https://www.ncbi.nlm.nih.gov/pubmed/1454323 https://www.ncbi.nlm.nih.gov/pubmed/18243154 Alternative Names: Avellino corneal dystrophy Combined Granular-Lattice Corneal Dystrophy Combined granular-lattice corneal dystrophies Corneal Dystrophy, Avellino Type Granular Corneal Dystrophy, Type II Granular and lattice corneal dystrophies Granular corneal dystrophy type 2 Granular-lattice (Avellino) corneal dystrophy ACD CGD2 Precursor Proteins: Q15582 | Transforming growth factor-beta-induced protein ig-h3 Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 45 Disease Name: Waldenstrom Macroglobulinemia Description: A lymphoproliferative disorder characterized by pleomorphic B-lymphocytes including plasma cells, with increased levels of monoclonal serum immunoglobulin M. There is lymphoplasmacytic cells infiltration into bone marrow and often other tissues, also known as lymphoplasmacytic lymphoma. Clinical features include anemia; hemorrhages; and hyperviscosity. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Neoplasms Tissue: Kidney, Blood Vessel, Liver Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/C88 https://meshb.nlm.nih.gov/record/ui?ui=D008258 https://www.omim.org/entry/610430 https://www.omim.org/entry/153600 https://www.ncbi.nlm.nih.gov/pubmed/2492644 https://www.ncbi.nlm.nih.gov/pubmed/6403452 https://www.ncbi.nlm.nih.gov/pubmed/8487054 https://www.ncbi.nlm.nih.gov/pubmed/6155694 https://www.ncbi.nlm.nih.gov/pubmed/11530809 https://www.ncbi.nlm.nih.gov/pubmed/9430877 https://www.ncbi.nlm.nih.gov/pubmed/23689541 Alternative Names: Familial Waldenstrom's Macroglobulinaemia Lymphoma, Lymphocytic, Plasmacytoid Lymphoma, Lymphoplasmacytoid Macroglobulinemia Primary Macroglobulinemia Waldenstrom's Macroglobulinaemia Waldenstrom's Macroglobulinemia Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein P61769 | Beta-2-microglobulin P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/8 http://83.212.109.111:8084/amyco/29 http://83.212.109.111:8084/amyco/33 // ID: 46 Disease Name: Lymphoma, Non-Hodgkin Description: Any of a group of malignant tumors of lymphoid tissue that differ from Hodgkin disease, being more heterogeneous with respect to malignant cell lineage, clinical course, prognosis, and therapy. The only common feature among these tumors is the absence of giant Reed-Sternberg cells, a characteristic of Hodgkin's disease. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Neoplasms Tissue: Heart, Kidney, Liver, Bone Marrow, Lymph Node, Spleen Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/C85 https://meshb.nlm.nih.gov/record/ui?ui=D008228 https://www.omim.org/entry/605027 https://www.ncbi.nlm.nih.gov/pubmed/1086712 https://www.ncbi.nlm.nih.gov/pubmed/9137796 https://www.ncbi.nlm.nih.gov/pubmed/15297973 https://www.ncbi.nlm.nih.gov/pubmed/12002783 https://www.ncbi.nlm.nih.gov/pubmed/14717777 https://www.ncbi.nlm.nih.gov/pubmed/20403049 Alternative Names: Diffuse Mixed Small and Large Cell Lymphoma Diffuse Mixed-Cell Lymphoma Diffuse Small Cleaved-Cell Lymphoma Diffuse Undifferentiated Lymphoma Lymphatic Sarcoma Lymphoma, Atypical Diffuse Small Lymphoid Lymphoma, Diffuse Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic Lymphoma, High-Grade Lymphoma, Intermediate-Grade Lymphoma, Low-Grade Lymphoma, Mixed Lymphoma, Mixed Cell, Diffuse Lymphoma, Mixed Lymphocytic-Histiocytic Lymphoma, Mixed Small and Large Cell, Diffuse Lymphoma, Mixed-Cell Lymphoma, Mixed-Cell, Diffuse Lymphoma, Non-Hodgkin's Lymphoma, Non-Hodgkin, Familial Lymphoma, Non-Hodgkins Lymphoma, Nonhodgkin's Lymphoma, Nonhodgkins Lymphoma, Pleomorphic Lymphoma, Small Cleaved Cell, Diffuse Lymphoma, Small Cleaved-Cell, Diffuse Lymphoma, Small Non-Cleaved-Cell Lymphoma, Small Noncleaved-Cell Lymphoma, Small and Large Cleaved-Cell, Diffuse Lymphoma, Undifferentiated Lymphoma, Undifferentiated, Diffuse Lymphosarcoma Mixed Small and Large Cell Lymphoma, Diffuse Mixed-Cell Lymphoma Mixed-Cell Lymphoma, Diff Non-Hodgkin Lymphoma Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 http://83.212.109.111:8084/amyco/8 // ID: 47 Disease Name: Carcinoma, Basal Cell Description: A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Neoplasms Tissue: Skin Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/C44 https://meshb.nlm.nih.gov/record/ui?ui=D002280 https://www.omim.org/entry/604451 https://www.ncbi.nlm.nih.gov/pubmed/4127464 https://www.ncbi.nlm.nih.gov/pubmed/385032 https://www.ncbi.nlm.nih.gov/pubmed/16076610 Alternative Names: Carcinoma, Basal Cell, Pigmented Epithelioma, Basal Cell Rodent Ulcer Ulcer, Rodent Basal Cell Carcinoma BCC Precursor Proteins: P02533 | Keratin, type I cytoskeletal 14 P04264 | Keratin, type II cytoskeletal 1 P13647 | Keratin, type II cytoskeletal 5 P47929 | Galectin-7 P60709 | Actin, cytoplasmic 1 P63261 | Actin, cytoplasmic 2 P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/42 // ID: 48 Disease Name: Keratosis, Seborrheic Description: Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. the age of onset is usually in the fourth or fifth decade. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Skin and Subcutaneous Tissue Tissue: Skin Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/L82 https://meshb.nlm.nih.gov/record/ui?ui=D017492 https://www.omim.org/entry/182000 https://www.ncbi.nlm.nih.gov/pubmed/7976084 https://www.ncbi.nlm.nih.gov/pubmed/11132094 Alternative Names: Keratosis Seborrheica Seborrheic keratosis Precursor Proteins: P02533 | Keratin, type I cytoskeletal 14 P04264 | Keratin, type II cytoskeletal 1 P13647 | Keratin, type II cytoskeletal 5 P47929 | Galectin-7 P60709 | Actin, cytoplasmic 1 P63261 | Actin, cytoplasmic 2 P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/42 // ID: 49 Disease Name: Cryopyrin-Associated Periodic Syndromes Description: A group of rare autosomal dominant diseases, commonly characterized by atypical urticaria (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney Cross References https://meshb.nlm.nih.gov/record/ui?ui=D056587 https://www.omim.org/entry/191900 https://www.ncbi.nlm.nih.gov/pubmed/6406764 https://www.ncbi.nlm.nih.gov/pubmed/10486324 https://www.ncbi.nlm.nih.gov/pubmed/14872505 https://www.ncbi.nlm.nih.gov/pubmed/29163488 Alternative Names: Muckle-Wells Syndrome Muckle Wells Syndrome Syndrome, Muckle-Wells Urticaria, Deafness and Amyloidosis UDA Syndrome Syndrome, UDA Syndromes, UDA UDA Syndromes Urticaria-Deafness-Amyloidosis Syndrome Syndrome, Urticaria-Deafness-Amyloidosis Syndromes, Urticaria-Deafness-Amyloidosis Urticaria Deafness Amyloidosis Syndrome Urticaria-Deafness-Amyloidosis Syndromes CINCA CINCA Syndrome Chronic Infantile Neurologic, Cutaneous, and Articular Syndrome Chronic Infantile Neurological, Cutaneous, and Articular Syndrome Chronic Neurologic Cutaneous and Articular Syndrome Chronic Neurologic, Cutaneous, and Articular Syndrome Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome Cold Urticaria, Familial Cold-Induced Autoinflammatory Syndrome, Familial Cryopyrinopathy FCAS1 Familial Cold Autoinflammatory Syndrome Familial Cold Autoinflammatory Syndrome 1 Familial Cold Urticaria Familial Cold-Induced Autoinflammatory Syndrome IOMID IOMID Syndrome Infantile Onset Multisystem Inflammatory Disease Multisystem Inflammatory Disease, Neonatal-Onset NOMID Neonatal Onset Multisystem Inflammatory Disease Prieur-Griscelli Syndrome CAPS Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 50 Disease Name: Chronic recurrent multifocal osteomyelitis Description: A type of osteomyelitis that occurs in children and is characterized by inflammation of the bones, especially with lesions at the metaphyses of the long bones; pain, and joint swelling. Patients may or may not present with fever. This disorder may occur alone or together with psoriasis or Inflammatory Bowel Disease; may also occur with Majeed Syndrome. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney, Liver Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/M86 https://meshb.nlm.nih.gov/record/ui?ui=C535456 https://www.omim.org/entry/259680 https://www.ncbi.nlm.nih.gov/pubmed/2071276 Alternative Names: CRMO Chronic multifocal osteomyelitis Multifocal osteomyelitis, chronic Osteomyelitis, Chronic Multifocal Chronic osteomyelitis Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 51 Disease Name: Arthritis, Reumatoid Description: A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/M06 http://apps.who.int/classifications/icd10/browse/2016/en#/M05 https://meshb.nlm.nih.gov/record/ui?ui=D001172 https://www.omim.org/entry/180300 https://www.ncbi.nlm.nih.gov/pubmed/20266988 https://www.ncbi.nlm.nih.gov/pubmed/18887096 https://www.ncbi.nlm.nih.gov/pubmed/18100843 https://www.ncbi.nlm.nih.gov/pubmed/18623808 https://www.ncbi.nlm.nih.gov/pubmed/20787830 https://www.ncbi.nlm.nih.gov/pubmed/7310780 https://www.ncbi.nlm.nih.gov/pubmed/3893817 https://www.ncbi.nlm.nih.gov/pubmed/26339445 https://www.ncbi.nlm.nih.gov/pubmed/28613962 Alternative Names: Reumatoid Arthritis RA Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein P02766 | Transthyretin Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/30 http://83.212.109.111:8084/amyco/29 // ID: 52 Disease Name: Inflammatory Bowel Diseases Description: Chronic, non-specific inflammation of the gastrointestinal tract. Etiology may be genetic or environmental. This term includes Crohn disease and Ulcerative colitis. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Digestive System Tissue: Liver, Gastrointestinal Tract Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/K50 http://apps.who.int/classifications/icd10/browse/2016/en#/K51 https://meshb.nlm.nih.gov/record/ui?ui=D015212 https://www.omim.org/entry/266600 https://www.ncbi.nlm.nih.gov/pubmed/842528 https://www.ncbi.nlm.nih.gov/pubmed/1995278 https://www.ncbi.nlm.nih.gov/pubmed/1522802 http://apps.who.int/classifications/icd10/browse/2016/en#/K52 https://www.ncbi.nlm.nih.gov/pubmed/28845105 https://www.ncbi.nlm.nih.gov/pubmed/29707074 Alternative Names: Colitis, Granulomatous Crohn's Disease Crohn's Enteritis Enteritis, Granulomatous Enteritis, Regional Ileitis, Regional Ileitis, Terminal Ileocolitis Inflammatory Bowel Disease 1 Regional Enteritis Colitis Gravis Idiopathic Proctocolitis Inflammatory Bowel Disease, Ulcerative Colitis Type Ulcerative Colitis Bowel Diseases, Inflammatory Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 53 Disease Name: Carcinoma, Renal Cell Description: A heterogeneous group of sporadic or hereditary carcinoma derived from cells of the kidneys. There are several subtypes including the clear cells, the papillary, the chromophobe, the collecting duct, the spindle cells (sarcomatoid), or mixed cell-type carcinoma. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Neoplasms Tissue: Kidney Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/C64 https://meshb.nlm.nih.gov/record/ui?ui=D002292 https://www.ncbi.nlm.nih.gov/pubmed/5953729 https://www.ncbi.nlm.nih.gov/pubmed/7060030 https://www.ncbi.nlm.nih.gov/pubmed/28509249 Alternative Names: Adenocarcinoma Of Kidney Adenocarcinoma, Renal Adenocarcinoma, Renal Cell Carcinoma, Hypernephroid Chromophil Renal Cell Carcinoma Chromophobe Renal Cell Carcinoma Clear Cell Renal Carcinoma Clear Cell Renal Cell Carcinoma Collecting Duct Carcinoma Collecting Duct Carcinoma (Kidney) Collecting Duct Carcinoma of the Kidney Grawitz Tumor Hypernephroma Nephroid Carcinoma Papillary Renal Cell Carcinoma Renal Cell Cancer Renal Cell Carcinoma Renal Cell Carcinoma, Papillary Renal Collecting Duct Carcinoma Sarcomatoid Renal Cell Carcinoma Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 54 Disease Name: Spondylitis, Ankylosing Description: A chronic inflammatory condition affecting the axial joints, such as the sacroiliac joint and other intervertebral or costovertebral joints. It occurs predominantly in young males and is characterized by pain and stiffness of joints (ankylosis) with inflammation at tendon insertions. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney, Liver, Adrenal Gland Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/M45 https://meshb.nlm.nih.gov/record/ui?ui=D013167 https://www.ncbi.nlm.nih.gov/pubmed/13498599 https://www.ncbi.nlm.nih.gov/pubmed/7022798 https://www.ncbi.nlm.nih.gov/pubmed/23283540 Alternative Names: Ankylosing Spondylarthritis Ankylosing Spondylitis Ankylosing Spondyloarthritis Bechterew Disease Bechterew's Disease Marie-Struempell Disease Rheumatoid Spondylitis Spondylarthritis Ankylopoietica Spondylitis Ankylopoietica Spondyloarthritis Ankylopoietica Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 55 Disease Name: Multiple Endocrine Neoplasia Type 2a Description: A form of multiple endocrine neoplasia characterized by the presence of medullary carcinoma (carcinoma, medullary) of the thyroid gland, and usually with the co-occurrence of pheochromocytoma, producing calcitonin and adrenaline, respectively. Less frequently, it can occur with hyperplasia or adenoma of the parathyroid glands. This disease is due to gain-of-function mutations of the MEN2 gene on chromosome 10(Locus: 10q11.2), also known as the ret proto-oncogene that encodes a receptor protein-tyrosine kinase. It is an autosomal dominant inherited disease. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Endocrine, Nutritional and Metabolic Diseases Tissue: Skin Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E31 https://meshb.nlm.nih.gov/record/ui?ui=D018813 https://www.omim.org/entry/171400 https://www.ncbi.nlm.nih.gov/pubmed/2576949 https://www.ncbi.nlm.nih.gov/pubmed/2573304 https://www.ncbi.nlm.nih.gov/pubmed/29420094 Alternative Names: MEA 2a MEA II MEA IIa MEN 2 MEN 2a MEN II MEN IIa MEN-2A Syndrome MEN2a Multiple Endocrine Neoplasia Type 2 Multiple Endocrine Neoplasia, Type IIa Multiple Endocrine Neoplasms Type 2a Neoplasia, Multiple Endocrine Type 2a Neoplasms, Multiple Endocrine Type 2a Pheochromocytoma And Amyloid-Producing Medullary Thyroid Carcinoma Sipple Syndrome PTC Syndrome Precursor Proteins: P02533 | Keratin, type I cytoskeletal 14 P04264 | Keratin, type II cytoskeletal 1 P13647 | Keratin, type II cytoskeletal 5 P47929 | Galectin-7 P60709 | Actin, cytoplasmic 1 P63261 | Actin, cytoplasmic 2 P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/42 // ID: 56 Disease Name: Schnitzler Syndrome Description: An extremely rare condition manifested as monoclonal immunoglobulin M dysproteinemia without features of lymphoproliferative disease, but with chronic urticaria, fever of unknown origin, disabling bone pain, hyperostosis, and increased erythrocyte sedimentation rate. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Other Tissue: Gastrointestinal Tract Cross References https://meshb.nlm.nih.gov/record/ui?ui=D019873 https://www.ncbi.nlm.nih.gov/pubmed/17586002 https://www.ncbi.nlm.nih.gov/pubmed/23619586 https://www.ncbi.nlm.nih.gov/pubmed/21143856 Alternative Names: null Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 57 Disease Name: Bowen's Disease Description: A malignant skin neoplasm that seldom metastasizes but has potentialities for local invasion and destruction. Clinically it is divided into types: nodular, cicatricial, morphaic, and erythematoid (pagetoid). They develop on hair-bearing skin, most commonly on sun-exposed areas. Approximately 85% are found on the head and neck area and the remaining 15% on the trunk and limbs. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Other Tissue: Skin Cross References https://meshb.nlm.nih.gov/record/ui?ui=D001913 https://www.ncbi.nlm.nih.gov/pubmed/8348730 https://www.ncbi.nlm.nih.gov/pubmed/4100068 https://www.ncbi.nlm.nih.gov/pubmed/1760372 Alternative Names: Bowen Disease Precursor Proteins: P02533 | Keratin, type I cytoskeletal 14 P04264 | Keratin, type II cytoskeletal 1 P13647 | Keratin, type II cytoskeletal 5 P60709 | Actin, cytoplasmic 1 P63261 | Actin, cytoplasmic 2 P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/42 // ID: 58 Disease Name: Mycosis Fungoides Description: A chronic, malignant T-cell lymphoma of the skin. In the late stages, the lymph nodes and viscera are affected. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Neoplasms Tissue: Skin Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/C84 https://meshb.nlm.nih.gov/record/ui?ui=D009182 https://www.omim.org/entry/254400 https://www.ncbi.nlm.nih.gov/pubmed/5846552 https://www.ncbi.nlm.nih.gov/pubmed/5881533 https://www.ncbi.nlm.nih.gov/pubmed/9216538 Alternative Names: null Precursor Proteins: P02533 | Keratin, type I cytoskeletal 14 P04264 | Keratin, type II cytoskeletal 1 P13647 | Keratin, type II cytoskeletal 5 P60709 | Actin, cytoplasmic 1 P63261 | Actin, cytoplasmic 2 P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/42 // ID: 59 Disease Name: Agammaglobulinemia Description: An immunologic deficiency state characterized by an extremely low level of generally all classes of gamma-globulin in the blood. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism Tissue: Kidney, Gastrointestinal Tract, Spleen, Liver Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/D80 https://meshb.nlm.nih.gov/record/ui?ui=D000361 https://www.ncbi.nlm.nih.gov/pubmed/14194996 https://www.ncbi.nlm.nih.gov/pubmed/24292696 https://www.ncbi.nlm.nih.gov/pubmed/8810937 Alternative Names: Agammaglobulinemia Agammaglobulinemia, BTK Agammaglobulinemia, Bruton tyrosine kinase Agammaglobulinemia, X-Linked Agammaglobulinemia, X-Linked, Type I Bruton's Agammaglobulinemia Bruton-Type Agammaglobulinemia Bruton-type (congenital X-linked) agammaglobulinemia Congenital Agammaglobulinemia Immunodeficiency 1 X-linked agammaglobulinemia Hypogammaglobulinemia Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 60 Disease Name: Castleman Disease Description: Large benign, hyperplastic lymph nodes. The more common hyaline vascular subtype is characterized by small hyaline vascular follicles and interfollicular capillary proliferations. Plasma cells are often present and represent another subtype with the plasma cells containing IgM and immunoglobulin A. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Neoplasms Tissue: Liver, Lymph Node, Spleen, Kidney, Thyroid Gland, Heart Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/D47 https://meshb.nlm.nih.gov/record/ui?ui=D005871 https://www.ncbi.nlm.nih.gov/pubmed/8213634 https://www.ncbi.nlm.nih.gov/pubmed/6437933 https://www.ncbi.nlm.nih.gov/pubmed/24348320 Alternative Names: Angiofollicular Lymph Hyperplasia Angiofollicular Lymph Node Hyperplasia Angiofollicular Lymphoid Hyperplasia Castleman's Disease Castleman's Tumor Castlemans Disease Giant Lymph Node Hyperplasia Hyperplasia, Giant Lymph Node Lymph Node Hyperplasia, Giant Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 61 Disease Name: Bronchiectasis  Description: Persistent abnormal dilatation of the bronchi. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Respiratory System Tissue: Larynx, Lung, Kidney, Gastrointestinal Tract Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/J47 https://meshb.nlm.nih.gov/record/ui?ui=D001987 https://www.ncbi.nlm.nih.gov/pubmed/27764008 https://www.ncbi.nlm.nih.gov/pubmed/8753122 Alternative Names: null Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/8 http://83.212.109.111:8084/amyco/29 // ID: 62 Disease Name: Cystic Fibrosis Description: An autosomal recessive genetic disease of the exocrine glands. It is caused by mutations in the gene encoding the cystic fibrosis transmembrane conductance regulator expressed in several organs including the lung, the pancreas, the biliary system, and the sweat glands. Cystic fibrosis is characterized by epithelial secretory dysfunction associated with ductal obstruction resulting in airway obstruction; chronic respiratory infections; pancreatic insufficiency; maldigestion; salt depletion; and heat prostration. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Endocrine, Nutritional and Metabolic Diseases Tissue: Kidney, Liver, Spleen, Heart, Gastrointestinal Tract, Lung Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E84 https://meshb.nlm.nih.gov/record/ui?ui=D003550 https://www.ncbi.nlm.nih.gov/pubmed/7246499 https://www.ncbi.nlm.nih.gov/pubmed/888804 https://www.ncbi.nlm.nih.gov/pubmed/3953498 https://www.ncbi.nlm.nih.gov/pubmed/3925758 https://www.ncbi.nlm.nih.gov/pubmed/25054230 Alternative Names: Cystic Fibrosis of Pancreas Fibrocystic Disease of Pancreas Mucoviscidosis Pancreatic Cystic Fibrosis Pulmonary Cystic Fibrosis Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 63 Disease Name: Enfuvirtide-induced Amyloidosis Description: Disease Type: Amyloidosis ISA Name: AEnf Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Enfuvirtide injection site Cross References https://www.ncbi.nlm.nih.gov/pubmed/19805777 https://www.ncbi.nlm.nih.gov/pubmed/22264247 https://www.ncbi.nlm.nih.gov/pubmed/24446896 Alternative Names: null Precursor Proteins: Co-deposited Proteins: P02647 | Apolipoprotein A-I P02649 | Apolipoprotein E P02743 | Serum amyloid P-component P06727 | Apolipoprotein A-IV Link to Amyloidosis: No information available // ID: 64 Disease Name: Behcet Syndrome Description: Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. Synovitis; thrombophlebitis; gastrointestinal ulcerations; retinal vasculitis; and optic atrophy may occur as well. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney, Salivary Gland, Gastrointestinal Tract Cross References https://www.ncbi.nlm.nih.gov/pubmed/1147457 https://www.ncbi.nlm.nih.gov/pubmed/25579733 https://www.ncbi.nlm.nih.gov/pubmed/22961375 https://www.ncbi.nlm.nih.gov/pubmed/10644872 http://apps.who.int/classifications/icd10/browse/2016/en#/M35 https://meshb.nlm.nih.gov/record/ui?ui=D001528 https://www.omim.org/entry/109650 Alternative Names: Adamantiades-Behcet Disease Complex Behcet Disease Behcet Triple Symptom Complex Behcet's Syndrome Old Silk Route Disease Triple Symptom Complex Triple-Symptom Complex BD Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 65 Disease Name: Periodic fever, familial, autosomal dominant Description: An inherited condition characterized by recurrent episodes of fever; onset is typically in early childhood. Fevers usually persist for about three weeks, though they can be longer or shorter, and may not occur again for several weeks or several years. Other symptoms may include abdominal pain; myalgia; arthralgia; skin rash and systemic inflammation; amyloidosis may also occur in some cases. There is often no trigger, but episodes are sometimes preceded by infections, injury, or stress. Germline mutations in the TNFRSFIA gene have been identified. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney Cross References https://www.ncbi.nlm.nih.gov/pubmed/23965844 https://www.ncbi.nlm.nih.gov/pubmed/11239851 https://www.ncbi.nlm.nih.gov/pubmed/11443543 https://meshb.nlm.nih.gov/record/ui?ui=C536657 https://www.omim.org/entry/142680 Alternative Names: Autosomal Dominant Familial Periodic Fever Familial Hibernian fever Hibernian Familial Fever Hibernian fever, familial TNF Receptor-associated Periodic Syndrome Tumor necrosis factor receptor-associated periodic syndrome TRAPS TRAPS syndrome Tumor necrosis factor receptor 1 associated periodic syndrome TNF receptor 1-associated periodic syndrome FPF FHF Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 66 Disease Name: Polyarteritis Nodosa Description: A form of necrotizing non-granulomatous inflammation occurring primarily in medium-sized arteries, often with microaneurysms. It is characterized by muscle, joint, and abdominal pain resulting from arterial infarction and scarring in affected organs. Polyarteritis nodosa with lung involvement is called Churg-Strauss Syndrome. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney, Intestine Cross References https://www.ncbi.nlm.nih.gov/pubmed/26233953 https://www.ncbi.nlm.nih.gov/pubmed/24106820 https://www.ncbi.nlm.nih.gov/pubmed/10224498 https://www.ncbi.nlm.nih.gov/pubmed/27791393 http://apps.who.int/classifications/icd10/browse/2016/en#/M30 https://meshb.nlm.nih.gov/record/ui?ui=D010488 https://www.omim.org/entry/615688 Alternative Names: Polyarteritis Nodosa, Childhood-Onset PAN ADA2 Deficiency Essential Polyarteritis Necrotizing Arteritis Periarteritis Nodosa Adenosine Deaminase 2 Deficiency DADA2 Vasculitis due to DADA2 Vasculitis due to ADA2 deficiency Deficiency of Adenosine Deaminase 2 Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 67 Disease Name: PrP Systemic Amyloidosis Description: Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Peripheral Nervous System (PNS), Kidney, Liver, Lung Cross References https://www.ncbi.nlm.nih.gov/pubmed/24224623 https://www.ncbi.nlm.nih.gov/pubmed/24296653 https://www.ncbi.nlm.nih.gov/pubmed/25623792 http://apps.who.int/classifications/icd10/browse/2016/en#/G60 Alternative Names: Prion protein systemic amyloidosis Chronic diarrhea with HSAN Chronic diarrhea with hereditary sensory and autonomic neuropathy Prion Disease Associated with Diarrhea and Autonomic Neuropathy Precursor Proteins: P04156 | Major prion protein Co-deposited Proteins: P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 68 Disease Name: Mevalonate Kinase Deficiency Description: Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and mevalonic acid accumulates. It is characterized by a range of symptoms, including dysmorphic facies, psychomotor retardation, cataract, hepatosplenomegaly, cerebellar ataxia, elevated immunoglobulin D, and recurrent febrile crises with fever; lymphadenopathy; arthralgia; edema; and rash. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Other Tissue: Kidney, Spleen, Liver Cross References https://www.ncbi.nlm.nih.gov/pubmed/15457465 https://www.ncbi.nlm.nih.gov/pubmed/19011501 https://www.ncbi.nlm.nih.gov/pubmed/27213830 https://www.ncbi.nlm.nih.gov/pubmed/8973873 https://www.ncbi.nlm.nih.gov/pubmed/15536479 https://meshb.nlm.nih.gov/record/ui?ui=D054078 https://www.omim.org/entry/610377 https://www.omim.org/entry/260920 Alternative Names: Hyper IgD Syndrome Hyper-IgD Syndrome Hyperimmunoglobulinemia D Hyperimmunoglobulinemia D And Periodic Fever Syndrome Mevalonic Aciduria Mevalonicaciduria Periodic Fever, Dutch Type HIDS Hyperimmunoglobulinemia D syndrome Hyperimmunoglobinemia D with recurrent fever MEVA Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 69 Disease Name: Sjogren's Syndrome Description: Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both keratoconjunctivitis sicca and xerostomia. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Lung, Skin, Kidney, Salivary Gland, Soft Tissues, Lachrymal Gland Cross References https://www.ncbi.nlm.nih.gov/pubmed/4682027 https://www.ncbi.nlm.nih.gov/pubmed/30210893 https://www.ncbi.nlm.nih.gov/pubmed/28202864 https://www.ncbi.nlm.nih.gov/pubmed/29787840 https://www.ncbi.nlm.nih.gov/pubmed/26339445 http://apps.who.int/classifications/icd10/browse/2016/en#/M35 https://meshb.nlm.nih.gov/record/ui?ui=D012859 https://www.omim.org/entry/270150 Alternative Names: Sicca Syndrome Sjogren Syndrome SS Precursor Proteins: P02766 | Transthyretin P0DOX7 | Immunoglobulin kappa light chain P0DOX8 | Immunoglobulin lambda-1 light chain Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/8 http://83.212.109.111:8084/amyco/30 http://83.212.109.111:8084/amyco/42 // ID: 70 Disease Name: Lupus Erythematosus, Systemic Description: A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes. It is of unknown etiology, but is thought to represent a failure of the regulatory mechanisms of the autoimmune system. The disease is marked by a wide range of system dysfunctions, an elevated erythrocyte sedimentation rate, and the formation of LE cells in the blood or bone marrow. Disease Type: Clinical conditions associated with amyloidosis ICD-10 Classification: Diseases of the Musculoskeletal System and Connective Tissue Tissue: Kidney, Heart, Lung, Bone Marrow, Gastrointestinal Tract, Liver, Spleen, Adrenal Cortex Cross References https://www.ncbi.nlm.nih.gov/pubmed/991472 https://www.ncbi.nlm.nih.gov/pubmed/17687556 https://www.ncbi.nlm.nih.gov/pubmed/13381422 https://www.ncbi.nlm.nih.gov/pubmed/20477021 http://apps.who.int/classifications/icd10/browse/2016/en#/M32 https://meshb.nlm.nih.gov/record/ui?ui=D008180 https://www.omim.org/entry/152700 Alternative Names: Libman-Sacks Disease Lupus Erythematosus Disseminatus Systemic Lupus Erythematosus SLE Precursor Proteins: P0DJI8 | Serum amyloid A-1 protein P0DJI9 | Serum amyloid A-2 protein Co-deposited Proteins: No information available Link to Amyloidosis: http://83.212.109.111:8084/amyco/29 // ID: 71 Disease Name: Limb-girdle muscular dystrophy, type 2B Description: An autosomal recessive form of limb-girde muscular dystrophy caused by mutations in the DYSF gene and characterized by onset between 15 and 25 years and slow progression, lack of upper limb involvement, increased variation in muscle fiber size, elevated serum creatine kinase, and rarely amyloid deposits in muscle fibers. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Skeletal Muscles Cross References https://www.ncbi.nlm.nih.gov/pubmed/18306167 http://apps.who.int/classifications/icd10/browse/2016/en#/G71 https://meshb.nlm.nih.gov/record/ui?ui=C535899 https://www.omim.org/entry/253601 Alternative Names: LGMD2B LGMD3 Muscular Dystrophy, Limb-Girdle, Type 2B Muscular dystrophy, limb-girdle, type 3 Limb-girdle muscular dystrophy due to dysferlin deficiency Autosomal recessive limb-girdle muscular dystrophy type 2B Precursor Proteins: O75923 | Dysferlin Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 72 Disease Name: Hypotrichosis Simplex of the Scalp Description: Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Skin and Subcutaneous Tissue Tissue: Skin Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/L65 https://www.omim.org/entry/146520 https://www.ncbi.nlm.nih.gov/pubmed/20448140 Alternative Names: Hereditary hypotrichosis simplex of the scalp Hypotrichosis 2 HYPT2 Hypotrichosis simplex of the scalp 1 HTSS1 HTSS HSS Hypotrichosis, Spanish Type Precursor Proteins: Q15517 | Corneodesmosin Co-deposited Proteins: P02743 | Serum amyloid P-component Link to Amyloidosis: No information available // ID: 73 Disease Name: Senile Seminal Vesicle Amyloidosis Description: Disease Type: Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Seminal Vesicle, Deferent Duct, Ejaculatory Duct Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/E85 https://www.ncbi.nlm.nih.gov/pubmed/6849372 https://www.ncbi.nlm.nih.gov/pubmed/14087279 https://www.ncbi.nlm.nih.gov/pubmed/1517901 https://www.ncbi.nlm.nih.gov/pubmed/15962837 https://www.ncbi.nlm.nih.gov/pubmed/28097620 Alternative Names: SSVA Senile Seminal Tract Amyloidosis SSTA Ejaculatory duct amyloidosis Spermatic duct amyloidosis Precursor Proteins: P04279 | Semenogelin-1 Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 74 Disease Name: Pick Disease of the Brain Description: A rare form of dementia that is sometimes familial. Clinical features include aphasia; apraxia; confusion; anomia; memory loss; and personality deterioration. This pattern is consistent with the pathologic findings of circumscribed atrophy of the poles of the frontal lobe and temporal lobe. Neuronal loss is maximal in the hippocampus, entorhinal cortex, and amygdala. Some ballooned cortical neurons contain argentophylic (Pick) bodies. Disease Type: Amyloidosis ICD-10 Classification: Diseases of the Nervous System Tissue: Central Nervous System (CNS) Cross References http://apps.who.int/classifications/icd10/browse/2016/en#/G31 https://meshb.nlm.nih.gov/record/ui?ui=D020774 https://www.omim.org/entry/172700 https://www.ncbi.nlm.nih.gov/pubmed/30158706 Alternative Names: Brain Atrophy, Circumscribed Lobar Circumscribed Lobar Atrophy of the Brain Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions Lobar Atrophy (Brain) Lobar Atrophy Of Brain Lobar Atrophy of the Brain Pick Disease Pick Disease Of Brain Pick's Disease Picks Disease of Brain Precursor Proteins: P10636 | Tau Co-deposited Proteins: No information available Link to Amyloidosis: No information available // ID: 75 Disease Name: Hereditary beta-2-microglobulin-related Amyloidosis Description: Disease Type: Amyloidosis ISA Name: Aβ2Mv Amyloidosis ICD-10 Classification: Amyloidosis Tissue: Spleen, Liver, Heart, Salivary Gland Cross References https://www.omim.org/entry/105200 https://www.ncbi.nlm.nih.gov/pubmed/22693999 http://apps.who.int/classifications/icd10/browse/2016/en#/E85 Alternative Names: Amyloidosis VIII Ostertag Type Amyloidosis German Type Amyloidosis Amyloidosis, Familial renal Amyloidosis, Familial visceral Amyloidosis, Systemic Non-neuropathic beta2-microglobulin-related amyloidosis beta2-microglobulin amyloidosis Beta-2-microglobulin amyloidosis ABeta2M amyloidosis Precursor Protein: P61769 | Beta-2-microglobulin Co-deposited Proteins: No information available Link to Amyloidosis: No information available //