coronary artery disease, autosomal dominant 2
Findings
No curated finding names coronary artery disease, autosomal dominant 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene.
Definition from the Mondo Disease Ontology (MONDO:0012586), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Adult onset
HPO, annotations 2026-09-02
Features
6 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.
- Type II diabetes mellitusHPOHP:0005978
- 11 of 15 reported patients
- Elevated circulating LDL-C concentrationHPOHP:0003141
- HypertensionHPOHP:0000822
- HypertriglyceridemiaHPOHP:0002155
- OsteoporosisHPOHP:0000939
- Premature coronary artery atherosclerosisHPOHP:0005181
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.
- LRP6HGNC:6698
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
Other names
4 names
Resolves to: coronary artery disease, autosomal dominant 2
- Also called
- coronary artery disease caused by mutation in LRP6coronary artery disease, autosomal dominant type 2coronary artery disease, autosomal dominant, 2LRP6 coronary artery disease