amyloidosis, hereditary systemic 3
MONDO:0971008Mondo
Findings
No curated finding names amyloidosis, hereditary systemic 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
27 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.
- Acanthosis nigricansHPOHP:0000956
- 1 of 1 reported patient
- Amyloid depositionHPOHP:0011034
- 1 of 1 reported patient
- Bruising susceptibilityHPOHP:0000978
- 1 of 1 reported patient
- Cardiac amyloidosisHPOHP:0030843
- 4 of 4 reported patients
- CardiomegalyHPOHP:0001640
- 2 of 2 reported patients
- Congestive heart failureHPOHP:0001635
- 5 of 5 reported patients
- Conjunctival amyloidosisHPOHP:0010637
- 1 of 1 reported patient
- Cutaneous amyloidosisHPOHP:0012309
- 3 of 3 reported patients
- Decreased circulating apolipoprotein A-I concentrationHPOHP:0031799
- 1 of 1 reported patient
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 1 of 1 reported patient
- DiarrheaHPOHP:0002014
- 1 of 1 reported patient
- Dilatation of the cerebral arteryHPOHP:0004944
- 1 of 1 reported patient
Show the remaining 15
- DyspneaHPOHP:0002094
- 1 of 1 reported patient
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 1 of 1 reported patient
- Generalized amyloid depositionHPOHP:0003216
- 1 of 1 reported patient
- Hepatic amyloidosisHPOHP:0012280
- 3 of 3 reported patients
- Hepatic failureHPOHP:0001399
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
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.
- APOA1HGNC:600
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of