MCID: CVL001
MIFTS: 25

Caveolinopathies malady

Genetic diseases (common) category

Aliases & Classifications for Caveolinopathies

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Aliases & Descriptions for Caveolinopathies:

Name: Caveolinopathies 21 22 24
 
Caveolin-3 Deficiency 21 22


Classifications:



Summaries for Caveolinopathies

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Wikipedia:68 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 and muscular dystrophy, limb-girdle, type ic. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3), and among its related pathways are Striated Muscle Contraction and Tight junction. Related mouse phenotype muscle.

GeneReviews summary for cav

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 Caveolinopathies22 24 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:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.6CAV3, MYH6, MYLK2

Publications for Caveolinopathies

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Articles related to Caveolinopathies:

idTitleAuthorsYear
1
Caveolinopathies in Greece. (26185955)
2015
2
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. (21496630)
2011
3
Caveolinopathies: from the biology of caveolin-3 to human diseases. (19584897)
2010
4
Caveolinopathy--new mutations and additional symptoms. (18583131)
2008
5
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. (14981167)
2004
6
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:00329829.8MYH6, MYH7
2muscle myosin complexGO:00058599.6MYH6, MYH7
3stress fiberGO:00017259.6MYH6, MYH7
4myofibrilGO:00300169.4MYH6, MYH7
5myosin complexGO:00164599.2MYH6, MYH7
6Z discGO:00300188.8CAV3, MYH6, MYH7
7sarcomereGO:00300178.6MYH6, MYH7, MYLK2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of the force of heart contractionGO:00020269.7MYH6, MYH7
2adult heart developmentGO:00075129.5MYH6, MYH7
3ventricular cardiac muscle tissue morphogenesisGO:00550109.5MYH6, MYH7
4ATP metabolic processGO:00460349.4MYH6, MYH7
5regulation of heart contractionGO:00080169.4CAV3, MYH6
6muscle contractionGO:00069369.4MYH6, MYH7
7muscle filament slidingGO:00300499.0MYH6, MYH7
8striated muscle contractionGO:00069418.8MYH6, MYH7, MYLK2
9regulation of heart rateGO:00020278.7CAV3, MYH6, MYH7
10cardiac muscle contractionGO:00600488.5MYH6, MYH7, MYLK2

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

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:00308989.8MYH6, MYH7
2microfilament motor activityGO:00001469.8MYH6, MYH7
3motor activityGO:00037749.3MYH6, MYH7
4ATPase activityGO:00168879.0MYH6, MYH7
5calmodulin bindingGO:00055168.6MYH6, MYH7, MYLK2

Sources for Caveolinopathies

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet