MCID: CVL001
MIFTS: 28

Caveolinopathies malady

Category: Genetic diseases (common)

Aliases & Classifications for Caveolinopathies

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Aliases & Descriptions for Caveolinopathies:

Name: Caveolinopathies 22 23 25
Caveolin-3 Deficiency 22 23
 
Caveolin-3 12

Classifications:



Summaries for Caveolinopathies

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Wikipedia:69 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 muscular dystrophy. 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 summary 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 Caveolinopathy25
2 Caveolinopathies23 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:

39
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:00300169.3MYH6, MYH7
6sarcomereGO:00300178.8MYH6, MYH7, MYLK2
7Z discGO:00300188.5CAV3, MYH6, MYH7

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
6muscle filament slidingGO:00300499.4MYH6, MYH7
7regulation of heart contractionGO:00080169.3CAV3, MYH6
8striated muscle contractionGO:00069418.9MYH6, MYH7, MYLK2
9regulation of heart rateGO:00020278.8CAV3, MYH6, MYH7
10cardiac muscle contractionGO:00600488.6MYH6, MYH7, MYLK2
11muscle contractionGO:00069368.5CAV3, MYH6, MYH7

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

idNameGO IDScoreTop Affiliating Genes
1microfilament motor activityGO:00001469.9MYH6, MYH7
2actin-dependent ATPase activityGO:00308989.9MYH6, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet