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
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