MCID: CVL001
MIFTS: 16

Caveolinopathies

Categories: Genetic diseases

Aliases & Classifications for Caveolinopathies

MalaCards integrated aliases for Caveolinopathies:

Name: Caveolinopathies 23 24
Caveolin-3 Deficiency 23 24
Caveolinopathy 29
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 muscular dystrophy, limb-girdle, type ic and rippling muscle disease. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3).

Wikipedia : 72 859... more...

GeneReviews: NBK1385

Related Diseases for Caveolinopathies

Diseases related to Caveolinopathies via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type ic 11.1
2 rippling muscle disease 11.1
3 muscular dystrophy 9.9
4 muscle disorders 9.8
5 limb-girdle muscular dystrophy 9.7

Graphical network of the top 20 diseases related to Caveolinopathies:



Diseases related to Caveolinopathies

Symptoms & Phenotypes for Caveolinopathies

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

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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