MCID: CVL001
MIFTS: 31

Caveolinopathies malady

Summaries for Caveolinopathies

Sources:
64Wikipedia, 19GeneReviews, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 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 limb-girdle muscular dystrophy and limb-girdle muscular dystrophy type 1c. 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. Affiliated tissues include skeletal muscle, and related mouse phenotypes are cardiovascular system and muscle.

GeneReviews summary for cav

Aliases & Classifications for Caveolinopathies

Sources:
19GeneReviews, 20GeneTests, 22GTR
See all sources

Aliases & Descriptions:

caveolinopathies 19 20 22
caveolin-3 deficiency 19


Related Diseases for Caveolinopathies

Sources:
17GeneCards, 18GeneDecks
See all sources

Graphical network of diseases related to Caveolinopathies:



Diseases related to caveolinopathies

Clinical Features for Caveolinopathies

Drugs & Therapeutics for Caveolinopathies

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Caveolinopathies:

id Genetic test Affiliating Genes
1 Caveolinopathies20 22 CAV3

Anatomical Context for Caveolinopathies

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Caveolinopathies:

33
Skeletal muscle

Animal Models for Caveolinopathies or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Caveolinopathies:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053858.4SLC25A4, VDR, MYH6, CAV3
2MP:00053697.6SLC25A4, VDR, MYH6, MYLK2, CAV3

Publications for Caveolinopathies

Sources:
51PubMed
See all sources

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
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. (14981167)
2004
4
Caveolinopathies (20301559)
1993

Genetic Variations for Caveolinopathies

Expression for genes affiliated with Caveolinopathies

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 12EMD Millipore
See all sources

Pathways related to Caveolinopathies according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Caveolinopathies

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 2BitterDB
See all sources

Compounds related to Caveolinopathies according to GeneCards/GeneDecks:

(show all 17)
idCompoundScoreTop Affiliating Genes
1clodronate45 50 1111.7SLC25A4, VDR
2mptp459.5SLC25A4, VDR
3actomyosin459.3MYH7, MYLK2
4(r)-(+)-blebbistatin609.3MYH6, MYH7
5bts609.3MYH6, MYH7
6(s)-(-)-blebbistatin609.3MYH6, MYH7
7(+-)-blebbistatin609.2MYH6, MYH7
8phenylephrine45 29 11 2412.1CAV3, MYH7
9ryanodine45 29 6011.0MYH7, MYH6
10isoproterenol45 119.9CAV3, MYH6, MYH7
11chloramphenicol45 2 1110.8MYH6, MYH7, VDR
12arginine458.5VDR, MYH7, MYH6
13creatinine458.5SLC25A4, VDR, MYH7, CAV3
14atp45 299.2MYLK2, MYH6, MYH7, SLC25A4
15lipid458.2CAV3, MYH6, MYH7, SLC25A4
16serine457.8VDR, MYH7, MYH6, MYLK2
17calcium45 50 11 2410.4SLC25A4, CAV3, MYLK2, MYH6, MYH7, VDR

GO Terms for genes affiliated with Caveolinopathies

Sources:
16Gene Ontology
See all sources

Cellular components related to Caveolinopathies according to GeneCards/GeneDecks:

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

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:0308989.1MYH6, MYH7
2ATPase activityGO:0168879.0MYH7, MYH6
3microfilament motor activityGO:0001468.9MYH7, MYH6
4structural constituent of muscleGO:0083078.7MYH6, MYH7
5calmodulin bindingGO:0055168.6MYH7, MYH6, MYLK2

Products for genes affiliated with Caveolinopathies

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Caveolinopathies

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet