caveolinopathy
Findings
No curated finding names caveolinopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of muscle diseases with basis in CAV3, which encodes caveolin-3, a muscle-specific membrane protein and the principal component of caveolae membrane in muscle cells in vivo. It is the only gene in which pathogenic variants are known to cause caveolinopathies. Sequence analysis identifies pathogenic variants in more than 99% of affected individuals
Definition from the Mondo Disease Ontology (MONDO:0016146), read 2026-09-29. CC BY 4.0.
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.
- CAV3HGNC:1529
- Definitive · ClinGen · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: caveolinopathy
- Also called
- qualitative or quantitative defects of caveolin-3