ATTRV30M amyloidosis
Findings
No curated finding names ATTRV30M amyloidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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, respectively), presenting features, histopathological characteristics, rate of disease progression and response to therapy.
Definition from the Mondo Disease Ontology (MONDO:0100552), read 2026-09-29. CC BY 4.0.
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- NephropathyHPOHP:0000112
- Very frequent (80% to 99% of cases)
- PolyneuropathyHPOHP:0001271
- Very frequent (80% to 99% of cases)
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- Abnormal renal physiologyHPOHP:0012211
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Atrioventricular blockHPOHP:0001678
- Frequent (30% to 79% of cases)
- Cardiomegaly
Show the remaining 2
- Vitreous floatersHPOHP:0100832
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: ATTRV30M amyloidosis
- Also called
- ATTRV30M-related amyloidosishereditary ATTRV30M-related amyloidosis