MCID: CVL001
MIFTS: 26

Caveolinopathies malady

Category: Genetic diseases (common)

Aliases & Classifications for Caveolinopathies

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Aliases & Descriptions for Caveolinopathies:

Name: Caveolinopathies 23 24 27
Caveolin-3 Deficiency 23 24
 
Caveolin-3 12

Characteristics:

GeneReviews:

23
Penetrance: cav3 mutations are characterized by high penetrance...


Classifications:



Summaries for Caveolinopathies

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Wikipedia:71 Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. Alternative splicing has been... more...

MalaCards based summary: Caveolinopathies, also known as caveolin-3 deficiency, is related to rippling muscle disease and autosomal dominant limb-girdle muscular dystrophy type 1c. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3), and among its related pathways are Dilated cardiomyopathy and Translocation of GLUT4 to the plasma membrane. Related mouse phenotype muscle.

GeneReviews for NBK1385

Related Diseases for Caveolinopathies

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Graphical network of diseases related to Caveolinopathies:



Diseases related to caveolinopathies

Symptoms & Phenotypes for Caveolinopathies

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MGI Mouse Phenotypes related to Caveolinopathies according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0CAV3, MYH6, MYH7, MYLK2

Drugs & Therapeutics for Caveolinopathies

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Caveolinopathies

Genetic Tests for Caveolinopathies

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Genetic tests related to Caveolinopathies:

id Genetic test Affiliating Genes
1 Caveolinopathy27
2 Caveolinopathies24 CAV3

Anatomical Context for Caveolinopathies

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Publications for Caveolinopathies

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Articles related to Caveolinopathies:

idTitleAuthorsYear
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

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Expression for genes affiliated with Caveolinopathies

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Search GEO for disease gene expression data for Caveolinopathies.

Pathways for genes affiliated with Caveolinopathies

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GO Terms for genes affiliated with Caveolinopathies

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Cellular components related to Caveolinopathies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle myosin complexGO:000585910.0MYH6, MYH7
2myofibrilGO:00300169.9MYH6, MYH7
3myosin complexGO:00164599.9MYH6, MYH7
4myosin filamentGO:00329829.9MYH6, MYH7
5stress fiberGO:00017259.9MYH6, MYH7
6sarcomereGO:00300179.1MYH6, MYH7, MYLK2
7Z discGO:00300188.8CAV3, MYH6, MYH7

Biological processes related to Caveolinopathies according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:000751210.0MYH6, MYH7
2regulation of heart contractionGO:000801610.0CAV3, MYH6
3ATP metabolic processGO:004603410.0MYH6, MYH7
4cardiac muscle hypertrophy in response to stressGO:00148989.9MYH6, MYH7
5muscle filament slidingGO:00300499.9MYH6, MYH7
6regulation of the force of heart contractionGO:00020269.8MYH6, MYH7
7muscle contractionGO:00069369.4CAV3, MYH6, MYH7
8ventricular cardiac muscle tissue morphogenesisGO:00550109.3MYH6, MYH7
9regulation of heart rateGO:00020279.3CAV3, MYH6, MYH7
10cardiac muscle contractionGO:00600489.1MYH6, MYH7, MYLK2
11striated muscle contractionGO:00069418.9MYH6, MYH7, MYLK2

Molecular functions related to Caveolinopathies according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:003089810.0MYH6, MYH7
2ATPase activityGO:001688710.0MYH6, MYH7
3microfilament motor activityGO:00001469.9MYH6, MYH7
4motor activityGO:00037749.3MYH6, MYH7
5calmodulin bindingGO:00055169.1MYH6, MYH7, MYLK2

Sources for Caveolinopathies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet