Terminology Service for NFDI4Health

caveolinopathy

Go to external page http://purl.obolibrary.org/obo/MONDO_0016146


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 [ https://www.ncbi.nlm.nih.gov/books/NBK1385/ ]

Term info

Label

caveolinopathy

Synonyms
  • qualitative or quantitative defects of caveolin-3
database cross reference
Subsets

disease_grouping, ordo_group_of_disorders

exactMatch

http://linkedlifedata.com/resource/umls/id/CN043575, http://purl.obolibrary.org/obo/Orphanet_207078

id

MONDO:0016146