Details of Disease

General Information of Disease (ID: DISLVYBG)

Disease Name Caveolinopathy
Synonyms qualitative or quantitative defects of caveolin-3
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
Disease Hierarchy
DISD715V: Hereditary neurological disease
DISXXXEE: Qualitative or quantitative protein defects in neuromuscular diseases
DISXAP3G: Muscle tissue disorder
DISLVYBG: Caveolinopathy
Disease Identifiers
MONDO ID
MONDO_0016146
UMLS CUI
C5679790
MedGen ID
1826055
Orphanet ID
207078

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CAV3 OTWSFDB4 Definitive Autosomal dominant [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.