MCID: CVL001
MIFTS: 35

Caveolinopathies malady

Genetic diseases (common) category

Summaries for Caveolinopathies

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Sources:
66Wikipedia, 20GeneReviews, 34MalaCards
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Wikipedia:66 Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. Alternative splicing has been... more...

MalaCards: Caveolinopathies, also known as caveolin-3 deficiency, is related to muscular dystrophy and limb-girdle muscular dystrophy. 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

Aliases & Classifications for Caveolinopathies

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20GeneReviews, 21GeneTests, 23GTR
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Classifications:

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


Aliases & Descriptions:

caveolinopathies 20 21 23
caveolin-3 deficiency 20


Related Diseases for Caveolinopathies

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18GeneCards, 19GeneDecks
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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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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Caveolinopathies

Drug clinical trials:

Search ClinicalTrials for Caveolinopathies

Search NIH Clinical Center for Caveolinopathies

Search CenterWatch for Caveolinopathies

Genetic Tests for Caveolinopathies

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21GeneTests, 23GTR
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Genetic tests related to Caveolinopathies:

id Genetic test Affiliating Genes
1 Caveolinopathies21 23 CAV3

Anatomical Context for Caveolinopathies

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Animal Models for Caveolinopathies or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Caveolinopathies:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4CAV3, MYH6, MYLK2, VDR

Publications for Caveolinopathies

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53PubMed
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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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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Caveolinopathies

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Pathways for genes affiliated with Caveolinopathies

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Sources:
51PathCards, 54QIAGEN, 56Reactome, 31KEGG, 39NCBI BioSystems Database, 61Thomson Reuters
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Pathways related to Caveolinopathies according to GeneCards/GeneDecks:

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 cardiomyopathy39
9.0MYH6, MYH7
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility61
Cytoskeleton remodeling Integrin outside in signaling61
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases61
Cell adhesion Tight junctions61
Development MAG dependent inhibition of neurite outgrowth61
8.5MYLK2, MYH7, MYH6
9
Show member pathways
8.5MYH6, MYH7, MYLK2

Compounds for genes affiliated with Caveolinopathies

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Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 62Tocris Bioscience, 3BitterDB, 52PharmGKB
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Compounds related to Caveolinopathies according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1actomyosin469.4MYH7, MYLK2
2phenylephrine46 30 25 1212.3CAV3, MYH7
3thyroxine46 2510.3MYH6, VDR
4(r)-(+)-blebbistatin629.3MYH7, MYH6
5bts629.3MYH7, MYH6
6(s)-(-)-blebbistatin629.3MYH7, MYH6
7(+-)-blebbistatin629.3MYH7, MYH6
8ryanodine46 30 6211.2MYH7, MYH6
9guanine46 25 1211.0MYH7, VDR
10polyacrylamide469.0MYH6, MYH7
11isoproterenol46 129.9MYH7, MYH6, CAV3
12creatinine468.9CAV3, MYH7, VDR
13chloramphenicol46 3 52 1211.8MYH6, MYH7, VDR
14arginine468.6MYH6, MYH7, VDR
15atp46 309.6MYLK2, MYH7, MYH6
16lipid468.3MYH7, MYH6, CAV3
17serine468.2VDR, MYLK2, MYH7, MYH6
18calcium46 52 25 1210.9CAV3, MYH6, MYH7, MYLK2, VDR

GO Terms for genes affiliated with Caveolinopathies

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17Gene Ontology
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Cellular components related to Caveolinopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1myosin filamentGO:0329829.1MYH7, MYH6
2muscle myosin complexGO:0058599.0MYH7, MYH6
3focal adhesionGO:0059259.0MYH6, MYH7
4myosin complexGO:0164598.9MYH6, MYH7
5stress fiberGO:0017258.7MYH6, MYH7
6Z discGO:0300188.7CAV3, MYH6, MYH7
7sarcomereGO:0300178.7MYH6, MYH7, MYLK2

Biological processes related to Caveolinopathies according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1regulation of heart contractionGO:0080169.5CAV3, MYH6
2adult heart developmentGO:0075129.2MYH6, MYH7
3regulation of the force of heart contractionGO:0020269.2MYH6, MYH7
4ventricular cardiac muscle tissue morphogenesisGO:0550109.1MYH7, MYH6
5positive regulation of gene expressionGO:0106289.1MYLK2, VDR
6muscle filament slidingGO:0300499.0MYH6, MYH7
7ATP catabolic processGO:0062009.0MYH6, MYH7
8muscle contractionGO:0069368.9MYH7, MYH6
9regulation of heart rateGO:0020278.8MYH7, MYH6, CAV3
10striated muscle contractionGO:0069418.7MYH6, MYH7, MYLK2

Molecular functions related to Caveolinopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:0308989.0MYH6, MYH7
2microfilament motor activityGO:0001468.9MYH7, MYH6
3ATPase activityGO:0168878.7MYH6, MYH7
4calmodulin bindingGO:0055168.6MYH6, MYH7, MYLK2
5ATP bindingGO:0055248.5MYH6, MYH7, MYLK2

Products for genes affiliated with Caveolinopathies

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Sources for Caveolinopathies

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet