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

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