ATTRV30M amyloidosis

What is ATTRV30M amyloidosis?

A rare hereditary ATTR amyloidosis (hATTR) characterized by a progressive, length-dependent sensorimotor axonal polyneuropathy and/or autonomic neuropathy in adulthood. Renal, ocular and cardiac involvement also frequently occurs. Two different phenotypes are associated with this mutation, namely early-onset V30M and late-onset V30M, that differ in terms of age on onset (<50 years or >50 years, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.

Other condition names

  • ATTRV30M-related amyloidosis
  • Familial amyloid polyneuropathy type I
  • Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type
  • TTR amyloid neuropathy
  • Transthyretin amyloid neuropathy
  • Transthyretin amyloid polyneuropathy

Inheritance type

Autosomal dominant

Age of Onset

  • Adult
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on "https://www.orphadata.com". Data version 1.3.16 / 4.1.7.