ATTRV30M amyloidosis

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Name:
ATTRV30M amyloidosis
Description:
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.
ORPHAcode:
85447
Synonyms:
ATTRV30M-related amyloidosis
Familial amyloid polyneuropathy type I
Familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type
TTR amyloid neuropathy
Transthyretin amyloid neuropathy
Transthyretin amyloid polyneuropathy
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14