Amyloidosis, Hereditary, Transthyretin-Related [Supplementary Concept]
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. OMIM: 105210
Date introduced: November 5, 2012
MeSH Unique ID: C567782
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Entry Terms:
- Hereditary Amyloidosis, Transthyretin-Related
- Transthyretin Amyloidosis
- hereditary transthyretin amyloidosis
- Familial Transthyretin Cardiac Amyloidosis