MCID: CVL001
MIFTS: 25

Caveolinopathies malady

Category: Genetic diseases (common)

Aliases & Classifications for Caveolinopathies

About this section

Aliases & Descriptions for Caveolinopathies:

Name: Caveolinopathies 21 22 24
 
Caveolin-3 Deficiency 21 22

Classifications:



Summaries for Caveolinopathies

About this section
Wikipedia:68 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 limb-girdle muscular dystrophy and muscular dystrophy, limb-girdle, type ic. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3), and among its related pathways are Tight junction and RhoGDI Pathway. Affiliated tissues include spinal cord, colon and breast, and related mouse phenotype muscle.

GeneReviews summary for NBK1385

Related Diseases for Caveolinopathies

About this section

Graphical network of diseases related to Caveolinopathies:



Diseases related to caveolinopathies

Symptoms for Caveolinopathies

About this section

Drugs & Therapeutics for Caveolinopathies

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Caveolinopathies

Genetic Tests for Caveolinopathies

About this section

Genetic tests related to Caveolinopathies:

id Genetic test Affiliating Genes
1 Caveolinopathies22 CAV3

Anatomical Context for Caveolinopathies

About this section

MalaCards organs/tissues related to Caveolinopathies:

33
Spinal cord, Colon, Breast, Prostate, Endothelial

Animal Models for Caveolinopathies or affiliated genes

About this section

MGI Mouse Phenotypes related to Caveolinopathies:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.0CAV3, MYH6, MYH7, MYLK2

Publications for Caveolinopathies

About this section

Articles related to Caveolinopathies:

idTitleAuthorsYear
1
Caveolinopathies in Greece. (26185955)
2015
2
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. (21496630)
2011
3
Caveolinopathies: from the biology of caveolin-3 to human diseases. (19584897)
2010
4
Caveolinopathy--new mutations and additional symptoms. (18583131)
2008
5
Molecular and muscle pathology in a series of caveolinopathy patients. (15580566)
2005
6
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. (14981167)
2004
7
Caveolinopathies (20301559)
1993

Variations for Caveolinopathies

About this section

Expression for genes affiliated with Caveolinopathies

About this section
Search GEO for disease gene expression data for Caveolinopathies.

Pathways for genes affiliated with Caveolinopathies

About this section

GO Terms for genes affiliated with Caveolinopathies

About this section

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

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.4MYH6, MYH7
2ATP metabolic processGO:00460349.3MYH6, MYH7
3regulation of heart rateGO:00020279.1CAV3, MYH6
4cardiac muscle contractionGO:00600489.1MYH6, MYLK2

Sources for Caveolinopathies

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet