Arvelig TTR amyloidose

Engelsk navn: ATTRV30M amyloidosis
Engelske synonym: ATTRV30M-related amyloidosis,Familial amyloid polyneuropathy type I,Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type,TTR amyloid neuropathy,Transthyretin amyloid neuropathy,Transthyretin amyloid polyneuropathy


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.

Fra Orphanet

ORPHA: 85447
Klassifiseringsnivå: Disorder
ICD-10: E85.1

Mer informasjon

Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)