Aliases & Classifications for Caveolinopathies

MalaCards integrated aliases for Caveolinopathies:

Name: Caveolinopathies 23 36
Caveolin-3 Deficiency 23
Caveolinopathy 28
Caveolin-3 13

Characteristics:

GeneReviews:

23
Penetrance Cav3 pathogenic variants are characterized by high penetrance...

External Ids:

KEGG 36 H00567

Summaries for Caveolinopathies

MalaCards based summary : Caveolinopathies, also known as caveolin-3 deficiency, is related to rippling muscle disease 2 and autosomal dominant limb-girdle muscular dystrophy type 1c. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion.

Wikipedia : 72 Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. Alternative splicing has been... more...

GeneReviews: NBK1385

Related Diseases for Caveolinopathies

Diseases related to Caveolinopathies via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 11.2
2 autosomal dominant limb-girdle muscular dystrophy type 1c 11.1
3 muscular dystrophy, limb-girdle, type 1c 11.0
4 muscular dystrophy 9.9
5 metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9
6 muscle disorders 9.9
7 limb-girdle muscular dystrophy 9.8

Graphical network of the top 20 diseases related to Caveolinopathies:



Diseases related to Caveolinopathies

Symptoms & Phenotypes for Caveolinopathies

Drugs & Therapeutics for Caveolinopathies

Search Clinical Trials , NIH Clinical Center for Caveolinopathies

Genetic Tests for Caveolinopathies

Genetic tests related to Caveolinopathies:

# Genetic test Affiliating Genes
1 Caveolinopathy 28

Anatomical Context for Caveolinopathies

Publications for Caveolinopathies

Articles related to Caveolinopathies:

# Title Authors Year
1
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. ( 27312022 )
2016
2
Caveolinopathies in Greece. ( 26185955 )
2015
3
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. ( 21496630 )
2011
4
Caveolinopathies: from the biology of caveolin-3 to human diseases. ( 19584897 )
2010
5
Caveolinopathy--new mutations and additional symptoms. ( 18583131 )
2008
6
Molecular and muscle pathology in a series of caveolinopathy patients. ( 15580566 )
2005
7
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. ( 14981167 )
2004
8
Caveolinopathies ( 20301559 )
1993

Variations for Caveolinopathies

Expression for Caveolinopathies

Search GEO for disease gene expression data for Caveolinopathies.

Pathways for Caveolinopathies

Pathways related to Caveolinopathies according to KEGG:

36
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

GO Terms for Caveolinopathies

Sources for Caveolinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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