MCID: CVL001
MIFTS: 29

Caveolinopathies malady

Genetic diseases (common) category

Aliases & Classifications for Caveolinopathies

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Caveolinopathies, Aliases & Descriptions:

Name: Caveolinopathies 19 20 22
 
Caveolin-3 Deficiency 19


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


Summaries for Caveolinopathies

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Wikipedia:63 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 cardiomyopathy, familial hypertrophic, 1. An important gene associated with Caveolinopathies is CAV3 (caveolin 3), and among its related pathways are RhoGDI Pathway and Clathrin derived vesicle budding. The compounds actomyosin and phenylephrine have been mentioned in the context of this disorder. 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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Drug clinical trials:

Search ClinicalTrials for Caveolinopathies

Search NIH Clinical Center for Caveolinopathies

Genetic Tests for Caveolinopathies

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Genetic tests related to Caveolinopathies:

id Genetic test Affiliating Genes
1 Caveolinopathies20 22 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:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4CAV3, MYH6, MYLK2, VDR

Publications for Caveolinopathies

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Articles related to Caveolinopathies:

idTitleAuthorsYear
1
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. (21496630)
2011
2
Caveolinopathies: from the biology of caveolin-3 to human diseases. (19584897)
2010
3
Caveolinopathy--new mutations and additional symptoms. (18583131)
2008
4
Molecular and muscle pathology in a series of caveolinopathy patients. (15580566)
2005
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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Pathways related to Caveolinopathies according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0MYH6, MYH7
2
Show member pathways
9.0MYH6, MYH7
3
Show member pathways
9.0MYH6, MYH7
49.0MYH6, MYH7
59.0MYH7, MYH6
69.0MYH6, MYH7
7
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
9.0MYH6, MYH7
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility58
Cytoskeleton remodeling Integrin outside in signaling58
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases58
Cell adhesion Tight junctions58
Development MAG dependent inhibition of neurite outgrowth58
8.5MYLK2, MYH7, MYH6
9
Show member pathways
8.5MYH6, MYH7, MYLK2

Compounds for genes affiliated with Caveolinopathies

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Compounds related to Caveolinopathies according to GeneCards Suite gene sharing:

(show all 18)
idCompoundScoreTop Affiliating Genes
1actomyosin439.4MYH7, MYLK2
2phenylephrine43 28 24 1212.3CAV3, MYH7
3thyroxine43 2410.3MYH6, VDR
4(r)-(+)-blebbistatin599.3MYH7, MYH6
5bts599.3MYH7, MYH6
6(s)-(-)-blebbistatin599.3MYH7, MYH6
7(+-)-blebbistatin599.3MYH7, MYH6
8ryanodine43 28 5911.2MYH7, MYH6
9guanine43 24 1211.0MYH7, VDR
10polyacrylamide439.0MYH6, MYH7
11isoproterenol43 129.9MYH7, MYH6, CAV3
12creatinine438.9CAV3, MYH7, VDR
13chloramphenicol43 2 49 1211.8MYH6, MYH7, VDR
14arginine438.6MYH6, MYH7, VDR
15atp43 289.6MYLK2, MYH7, MYH6
16lipid438.3MYH7, MYH6, CAV3
17serine438.2VDR, MYLK2, MYH7, MYH6
18calcium43 49 24 1210.9CAV3, MYH6, MYH7, MYLK2, VDR

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:00329829.1MYH7, MYH6
2muscle myosin complexGO:00058599.0MYH7, MYH6
3focal adhesionGO:00059259.0MYH6, MYH7
4myosin complexGO:00164598.9MYH6, MYH7
5stress fiberGO:00017258.7MYH6, MYH7
6Z discGO:00300188.7CAV3, MYH6, MYH7
7sarcomereGO:00300178.7MYH6, MYH7, MYLK2

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of heart contractionGO:00080169.5CAV3, MYH6
2adult heart developmentGO:00075129.2MYH6, MYH7
3regulation of the force of heart contractionGO:00020269.2MYH6, MYH7
4ventricular cardiac muscle tissue morphogenesisGO:00550109.1MYH7, MYH6
5positive regulation of gene expressionGO:00106289.1MYLK2, VDR
6muscle filament slidingGO:00300499.0MYH6, MYH7
7ATP catabolic processGO:00062009.0MYH6, MYH7
8muscle contractionGO:00069368.9MYH7, MYH6
9regulation of heart rateGO:00020278.8MYH7, MYH6, CAV3
10striated muscle contractionGO:00069418.7MYH6, MYH7, MYLK2

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

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:00308989.0MYH6, MYH7
2microfilament motor activityGO:00001468.9MYH7, MYH6
3ATPase activityGO:00168878.7MYH6, MYH7
4calmodulin bindingGO:00055168.6MYH6, MYH7, MYLK2
5ATP bindingGO:00055248.5MYH6, MYH7, MYLK2

Products for genes affiliated with Caveolinopathies

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  • Antibodies
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  • Kits and Assays

Sources for Caveolinopathies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet