Amyloidosis, Hereditary, Transthyretin-Related
MESHC567782
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
Synonyms
- hereditary transthyretin amyloidosis
- Familial Transthyretin Cardiac Amyloidosis
- Transthyretin Amyloidosis
- Hereditary Amyloidosis, Transthyretin-Related
Source last updated 2026-05-24T15:29:55.190Z