hypercholesterolemia, autosomal dominant, type B
MONDO:0007751Mondo
Findings
No curated finding names hypercholesterolemia, autosomal dominant, type B 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
2 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.
- Elevated circulating LDL-C concentrationHPOHP:0003141
- 7 of 8 reported patients
- Coronary artery atherosclerosisHPOHP:0001677
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.
- APOBHGNC:603
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · ClinGen · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: hypercholesterolemia, autosomal dominant, type B
- Also called
- hypercholesterolemia, familial, 2