MCID: CVL001
MIFTS: 27

Caveolinopathies malady

Category: Genetic diseases (common)

Aliases & Classifications for Caveolinopathies

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Aliases & Descriptions for Caveolinopathies:

Name: Caveolinopathies 23 24 26
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:70 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 muscular dystrophy, limb-girdle, type ic and rippling muscle disease. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3), and among its related pathways are RhoGDI Pathway and Tight junction. 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 for Caveolinopathies

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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 Caveolinopathy26
2 Caveolinopathies24 CAV3

Anatomical Context for Caveolinopathies

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Animal Models for Caveolinopathies or affiliated genes

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MGI Mouse Phenotypes related to Caveolinopathies:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0CAV3, MYH6, MYH7, MYLK2

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
1myosin filamentGO:00329829.9MYH6, MYH7
2muscle myosin complexGO:00058599.8MYH6, MYH7
3myosin complexGO:00164599.6MYH6, MYH7
4stress fiberGO:00017259.4MYH6, MYH7
5myofibrilGO:00300169.2MYH6, MYH7
6Z discGO:00300188.8CAV3, MYH6, MYH7
7sarcomereGO:00300178.8MYH6, MYH7, MYLK2

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

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1cardiac muscle hypertrophy in response to stressGO:00148989.8MYH6, MYH7
2adult heart developmentGO:00075129.7MYH6, MYH7
3ventricular cardiac muscle tissue morphogenesisGO:00550109.6MYH6, MYH7
4regulation of the force of heart contractionGO:00020269.6MYH6, MYH7
5ATP metabolic processGO:00460349.6MYH6, MYH7
6regulation of heart contractionGO:00080169.5CAV3, MYH6
7muscle filament slidingGO:00300499.4MYH6, MYH7
8striated muscle contractionGO:00069418.9MYH6, MYH7, MYLK2
9regulation of heart rateGO:00020278.8CAV3, MYH6, MYH7
10muscle contractionGO:00069368.5CAV3, MYH6, MYH7
11cardiac muscle contractionGO:00600488.4MYH6, MYH7, MYLK2

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

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:00308989.9MYH6, MYH7
2microfilament motor activityGO:00001469.9MYH6, MYH7
3ATPase activityGO:00168879.3MYH6, MYH7
4calmodulin bindingGO:00055168.8MYH6, MYH7, MYLK2

Sources for Caveolinopathies

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet