MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
Disease Browser
Parent Node:
expandqualitative or quantitative protein defects in neuromuscular diseases (MONDO:0016139)
..Starting node
..expandcaveolinopathy ()

       Child Nodes:
........expandinherited rippling muscle disease ()
........expandisolated asymptomatic elevation of creatine phosphokinase ()



 Sister Nodes: 
..expandcaveolinopathy ()
..expandqualitative or quantitative defects of alpha-actin ()
..expandqualitative or quantitative defects of alpha-dystroglycan ()
..expandqualitative or quantitative defects of beta-myosin heavy chain (MYH7) ()
..expandqualitative or quantitative defects of calpain ()
..expandqualitative or quantitative defects of collagen 6 ()
..expandqualitative or quantitative defects of dysferlin ()
..expandqualitative or quantitative defects of dystrophin ()
..expandqualitative or quantitative defects of emerin ()
..expandqualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - ()
..expandqualitative or quantitative defects of integrin alpha-7 ()
..expandqualitative or quantitative defects of merosin ()
..expandqualitative or quantitative defects of myofibrillar proteins ()
..expandqualitative or quantitative defects of myotilin ()
..expandqualitative or quantitative defects of myotubularin ()
..expandqualitative or quantitative defects of nebulin ()
..expandqualitative or quantitative defects of perlecan ()
..expandqualitative or quantitative defects of plectin ()
..expandqualitative or quantitative defects of protein SERCA1 ()
..expandqualitative or quantitative defects of selenoprotein N1 ()
..expandqualitative or quantitative defects of telethonin ()
..expandqualitative or quantitative defects of titin ()
..expandqualitative or quantitative defects of Torsin-1A-interacting protein 1 ()
..expandqualitative or quantitative defects of TRIM32 ()
..expandqualitative or quantitative defects of tropomyosin ()
..expandqualitative or quantitative defects of troponin ()
..expandsarcoglycanopathy ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:16146
Name:caveolinopathy
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
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:qualitative or quantitative defects of caveolin-3
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal