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.
MONDO:0971004
amyloidosis, hereditary systemic 1
is_a
ATTRV30M-related amyloidosis
exact
TTR amyloid neuropathyy
related
amyloidosis transthyretin related
related
familial amyloid polyneuropathy type I
related
familial amyloid polyneuropathy, Portuguese-Swedish-Japanese type
related
hereditary ATTRV30M-related amyloidosis
exact
transthyretin amyloid neuropathy
related
transthyretin amyloid polyneuropathy
related