MCID: CVL001
MIFTS: 35

Caveolinopathies malady

Genetic diseases (common) category
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Summaries for Caveolinopathies

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Sources:
65Wikipedia, 19GeneReviews, 33MalaCards
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Wikipedia:65 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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19GeneReviews, 20GeneTests, 22GTR
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Classifications:

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


Aliases & Descriptions:

caveolinopathies 19 20 22
caveolin-3 deficiency 19


Related Diseases for Caveolinopathies

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17GeneCards, 18GeneDecks
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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:
42NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests, 22GTR
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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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37MGI
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MGI Mouse Phenotypes related to Caveolinopathies:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.4CAV3, MYH6, MYLK2, VDR

Publications for Caveolinopathies

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52PubMed
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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, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Caveolinopathies

Search GEO for disease gene expression data for Caveolinopathies.

Pathways for genes affiliated with Caveolinopathies

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Sources:
50PathCards, 53QIAGEN, 55Reactome, 30KEGG, 38NCBI BioSystems Database, 60Thomson 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 cardiomyopathy38
9.0MYH6, MYH7
8
Show member pathways
Cytoskeleton remodeling Fibronectin binding integrins in cell motility60
Cytoskeleton remodeling Integrin outside in signaling60
Cytoskeleton remodeling Regulation of actin cytoskeleton by Rho GTPases60
Cell adhesion Tight junctions60
Development MAG dependent inhibition of neurite outgrowth60
8.5MYLK2, MYH7, MYH6
9
Show member pathways
8.5MYH6, MYH7, MYLK2

Compounds for genes affiliated with Caveolinopathies

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Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 61Tocris Bioscience, 3BitterDB, 51PharmGKB
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Compounds related to Caveolinopathies according to GeneCards/GeneDecks:

(show all 18)
idCompoundScoreTop Affiliating Genes
1actomyosin459.4MYH7, MYLK2
2phenylephrine45 29 24 1112.3CAV3, MYH7
3thyroxine45 2410.3MYH6, VDR
4(r)-(+)-blebbistatin619.3MYH7, MYH6
5bts619.3MYH7, MYH6
6(s)-(-)-blebbistatin619.3MYH7, MYH6
7(+-)-blebbistatin619.3MYH7, MYH6
8ryanodine45 29 6111.2MYH7, MYH6
9guanine45 24 1111.0MYH7, VDR
10polyacrylamide459.0MYH6, MYH7
11isoproterenol45 119.9MYH7, MYH6, CAV3
12creatinine458.9CAV3, MYH7, VDR
13chloramphenicol45 3 51 1111.8MYH6, MYH7, VDR
14arginine458.6MYH6, MYH7, VDR
15atp45 299.6MYLK2, MYH7, MYH6
16lipid458.3MYH7, MYH6, CAV3
17serine458.2VDR, MYLK2, MYH7, MYH6
18calcium45 51 24 1110.9CAV3, MYH6, MYH7, MYLK2, VDR

GO Terms for genes affiliated with Caveolinopathies

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet