MCID: CVL001
MIFTS: 26

Caveolinopathies malady

Categories: Genetic diseases

Aliases & Classifications for Caveolinopathies

Aliases & Descriptions for Caveolinopathies:

Name: Caveolinopathies 23 24 29
Caveolin-3 Deficiency 23 24
Caveolin-3 13

Characteristics:

GeneReviews:

23
Penetrance Cav3 mutations are characterized by high penetrance...

Classifications:



Summaries for Caveolinopathies

MalaCards based summary : Caveolinopathies, also known as caveolin-3 deficiency, is related to rippling muscle disease and autosomal dominant limb-girdle muscular dystrophy type 1c. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3), and among its related pathways/superpathways are Vascular smooth muscle contraction and RhoGDI Pathway. Related phenotype is muscle.

Wikipedia : 71 Caveolin-3 is a protein that in humans is encoded by the CAV3 gene. Alternative splicing has been... more...

GeneReviews: NBK1385

Related Diseases for Caveolinopathies

Graphical network of the top 20 diseases related to Caveolinopathies:



Diseases related to Caveolinopathies

Symptoms & Phenotypes for Caveolinopathies

MGI Mouse Phenotypes related to Caveolinopathies:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CAV3 MYH6 MYH7 MYLK2

Drugs & Therapeutics for Caveolinopathies

Search Clinical Trials , NIH Clinical Center for Caveolinopathies

Genetic Tests for Caveolinopathies

Genetic tests related to Caveolinopathies:

id Genetic test Affiliating Genes
1 Caveolinopathy 29
2 Caveolinopathies 24 CAV3

Anatomical Context for Caveolinopathies

Publications for Caveolinopathies

Articles related to Caveolinopathies:

id Title Authors Year
1
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. ( 27312022 )
2016
2
Caveolinopathies in Greece. ( 26185955 )
2015
3
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. ( 21496630 )
2011
4
Caveolinopathies: from the biology of caveolin-3 to human diseases. ( 19584897 )
2010
5
Caveolinopathy--new mutations and additional symptoms. ( 18583131 )
2008
6
Molecular and muscle pathology in a series of caveolinopathy patients. ( 15580566 )
2005
7
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. ( 14981167 )
2004
8
Caveolinopathies ( 20301559 )
1993

Variations for Caveolinopathies

Expression for Caveolinopathies

Search GEO for disease gene expression data for Caveolinopathies.

Pathways for Caveolinopathies

GO Terms for Caveolinopathies

Cellular components related to Caveolinopathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 myosin complex GO:0016459 9.4 MYH6 MYH7
2 stress fiber GO:0001725 9.37 MYH6 MYH7
3 myofibril GO:0030016 9.32 MYH6 MYH7
4 muscle myosin complex GO:0005859 9.26 MYH6 MYH7
5 myosin filament GO:0032982 9.16 MYH6 MYH7
6 Z disc GO:0030018 9.13 CAV3 MYH6 MYH7
7 sarcomere GO:0030017 8.8 MYH6 MYH7 MYLK2

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

(show all 11)
id Name GO ID Score Top Affiliating Genes
1 muscle filament sliding GO:0030049 9.49 MYH6 MYH7
2 ATP metabolic process GO:0046034 9.48 MYH6 MYH7
3 regulation of heart contraction GO:0008016 9.46 CAV3 MYH6
4 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.43 MYH6 MYH7
5 muscle contraction GO:0006936 9.43 CAV3 MYH6 MYH7
6 regulation of the force of heart contraction GO:0002026 9.4 MYH6 MYH7
7 cardiac muscle hypertrophy in response to stress GO:0014898 9.37 MYH6 MYH7
8 cardiac muscle contraction GO:0060048 9.33 MYH6 MYH7 MYLK2
9 adult heart development GO:0007512 9.32 MYH6 MYH7
10 regulation of heart rate GO:0002027 9.13 CAV3 MYH6 MYH7
11 striated muscle contraction GO:0006941 8.8 MYH6 MYH7 MYLK2

Molecular functions related to Caveolinopathies according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.32 MYH6 MYH7
2 motor activity GO:0003774 9.26 MYH6 MYH7
3 microfilament motor activity GO:0000146 9.16 MYH6 MYH7
4 calmodulin binding GO:0005516 9.13 MYH6 MYH7 MYLK2
5 actin-dependent ATPase activity GO:0030898 8.62 MYH6 MYH7

Sources for Caveolinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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