amyloidosis, hereditary systemic 6
MONDO:0971010Mondo
Findings
No curated finding names amyloidosis, hereditary systemic 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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.
- Amyloidosis of peripheral nervesHPOHP:0100292
- 4 of 4 reported patients
- Cardiac amyloidosisHPOHP:0030843
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 3 of 3 reported patients
- Hepatic amyloidosisHPOHP:0012280
- 1 of 1 reported patient
- Orthostatic hypotensionHPOHP:0001278
- 1 of 1 reported patient
- PolyneuropathyHPOHP:0001271
- 1 of 1 reported patient
- Weight lossHPOHP:0001824
- 2 of 3 reported patients
- DyspneaHPOHP:0002094
- 0 of 1 reported patient
- EdemaHPOHP:0000969
- 0 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.
- B2MHGNC:914
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of