Hereditary Transthyretin Amyloidosis with Polyneuropathy

**Semantic type:** Disease or Syndrome

**Definition:** A rare, progressive, autosomally dominant inherited peripheral neuropathy caused by mutations in the TTR gene encoding transthyretin (prealbumin). It is characterized by deposition of amyloid fibrils in the peripheral nervous system.

**Synonyms:** - ATTRv-PN - Hereditary Amyloidogenic Transthyretin Amyloidosis with Polyneuropathy - TTR-FAP - Transthyretin Familial Amyloid Polyneuropathy - Variant Transthyretin Amyloidosis with Polyneuropathy - hATTR-PN