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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