hypercholesterolemia, autosomal dominant, 3
Findings
No curated finding names hypercholesterolemia, autosomal dominant, 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene.
Definition from the Mondo Disease Ontology (MONDO:0011369), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
5 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.
- HypercholesterolemiaHPOHP:0003124
- Obligate (100% of cases)
- Abnormal LDL cholesterol concentrationHPOHP:0031886
- Corneal arcusHPOHP:0001084
- Tendon xanthomatosisHPOHP:0010874
- XanthelasmaHPOHP:0001114
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.
- PCSK9HGNC:20001
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2018
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: hypercholesterolemia, autosomal dominant, 3
- Also called
- familial hypercholesterolemia caused by mutation in PCSK9hypercholesterolemia, autosomal dominant, type 3hypercholesterolemia, familial, 3low density lipoprotein cholesterol level QTL 1PCSK9 familial hypercholesterolemia