familial amyloid neuropathy
Findings
No curated finding names familial amyloid neuropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
Definition from the Mondo Disease Ontology (MONDO:0007100), read 2026-09-29. CC BY 4.0.
Features
43 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.
- Abnormal autonomic nervous system physiologyHPOHP:0012332
- Frequent (30% to 79% of cases)
- AnhidrosisHPOHP:0000970
- Frequent (30% to 79% of cases)
- ArrhythmiaHPOHP:0011675
- Frequent (30% to 79% of cases)
- Cardiac transthyretin amyloid depositionHPOHP:0031327
- Frequent (30% to 79% of cases)
- Congestive heart failureHPOHP:0001635
- Frequent (30% to 79% of cases)
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Constrictive median neuropathy
Show the remaining 31
- Keratoconjunctivitis siccaHPOHP:0001097
- Frequent (30% to 79% of cases)
- Left ventricular hypertrophyHPOHP:0001712
- Frequent (30% to 79% of cases)
- Nausea and vomitingHPOHP:0002017
- Frequent (30% to 79% of cases)
- NephropathyHPOHP:0000112
- Frequent (30% to 79% of cases)
- Orthostatic hypotension due to autonomic dysfunctionHPOHP:0004926
- Frequent (30% to 79% of cases)
- Restrictive cardiomyopathyHPOHP:0001723
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- TTRHGNC:12405
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: familial amyloid neuropathy
- Also called
- amyloid neuropathies, familialATTRv amyloidosisfamilial amyloid polyneuropathyfamilial transthyretin-related amyloidosisfamilial TTR-related amyloidosishATTRhereditary transthyretin amyloid polyneuropathyhereditary TTR amyloid polyneuropathyhereditary TTR amyloidosisparamyloidosis