MCID: CVL001
MIFTS: 33

Caveolinopathies malady

Summaries for Caveolinopathies

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63Wikipedia, 19GeneReviews, 32MalaCards
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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: 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 Hypertrophic cardiomyopathy (HCM) and Tight junction. The compounds clodronate and mptp have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and muscle.

GeneReviews summary for cav

Aliases & Classifications for Caveolinopathies

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19GeneReviews, 20GeneTests, 22GTR
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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

Clinical Features for Caveolinopathies

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Drugs & Therapeutics for Caveolinopathies

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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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36MGI
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MGI Mouse Phenotypes related to Caveolinopathies:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4SLC25A4, VDR, MYH6, CAV3
2MP:00053697.6SLC25A4, VDR, MYH6, MYLK2, CAV3

Publications for Caveolinopathies

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50PubMed
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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

Genetic Variations for Caveolinopathies

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Expression for genes affiliated with Caveolinopathies

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1BioGPS, 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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29KEGG, 12EMD Millipore
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Pathways related to Caveolinopathies according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.0MYH7, MYH6
29.0MYH7, MYH6
39.0MYH7, MYH6
49.0MYH6, MYH7
5
Cell adhesion Integrin-mediated cell adhesion and migration
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8.6MYH7, MYH6, MYLK2
6
Immune response CCR3 signaling in eosinophils
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8.6MYH7, MYH6, MYLK2

Compounds for genes affiliated with Caveolinopathies

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 2BitterDB
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Compounds related to Caveolinopathies according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1clodronate44 49 1111.7SLC25A4, VDR
2mptp449.5SLC25A4, VDR
3actomyosin449.3MYH7, MYLK2
4(r)-(+)-blebbistatin599.3MYH6, MYH7
5bts599.3MYH6, MYH7
6(s)-(-)-blebbistatin599.3MYH6, MYH7
7(+-)-blebbistatin599.2MYH6, MYH7
8phenylephrine44 28 11 2412.1CAV3, MYH7
9ryanodine44 28 5911.0MYH7, MYH6
10isoproterenol44 119.9CAV3, MYH6, MYH7
11chloramphenicol44 2 1110.8MYH6, MYH7, VDR
12arginine448.5VDR, MYH7, MYH6
13creatinine448.5SLC25A4, VDR, MYH7, CAV3
14atp44 289.2MYLK2, MYH6, MYH7, SLC25A4
15lipid448.2CAV3, MYH6, MYH7, SLC25A4
16serine447.8VDR, MYH7, MYH6, MYLK2
17calcium44 49 11 2410.4SLC25A4, CAV3, MYLK2, MYH6, MYH7, 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:0329829.1MYH6, MYH7
2muscle myosin complexGO:0058599.0MYH6, MYH7
3focal adhesionGO:0059259.0MYH7, MYH6
4myosin complexGO:0164598.9MYH7, MYH6
5Z discGO:0300188.7MYH7, MYH6, CAV3
6stress fiberGO:0017258.7MYH7, MYH6
7sarcomereGO:0300178.7MYH7, MYH6, MYLK2

Biological processes related to Caveolinopathies according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1striated muscle contractionGO:0069419.6MYH6, MYLK2
2regulation of heart contractionGO:0080169.5CAV3, MYH6
3positive regulation of gene expressionGO:0106289.5VDR, MYLK2
4adult heart developmentGO:0075129.2MYH6, MYH7
5ventricular cardiac muscle tissue morphogenesisGO:0550109.1MYH7, MYH6
6muscle filament slidingGO:0300499.0MYH7, MYH6
7ATP catabolic processGO:0062008.9MYH7, MYH6
8regulation of heart rateGO:0020278.8MYH7, MYH6, CAV3
9muscle contractionGO:0069368.7MYH7, MYH6

Molecular functions related to Caveolinopathies according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1actin-dependent ATPase activityGO:0308989.1MYH7, MYH6
2ATPase activityGO:0168879.0MYH7, MYH6
3microfilament motor activityGO:0001468.9MYH6, MYH7
4structural constituent of muscleGO:0083078.7MYH7, MYH6
5calmodulin bindingGO:0055168.6MYH7, MYH6, MYLK2

Products for genes affiliated with Caveolinopathies

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  • Antibodies
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Sources for Caveolinopathies

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet