Aliases & Classifications for Caveolinopathies

MalaCards integrated aliases for Caveolinopathies:

Name: Caveolinopathies 24 37
Caveolinopathy 29 6
Caveolin-3 Deficiency 24
Caveolin-3 13

Characteristics:

GeneReviews:

24
Penetrance Cav3 pathogenic variants are characterized by high penetrance...

External Ids:

KEGG 37 H00567

Summaries for Caveolinopathies

MalaCards based summary : Caveolinopathies, also known as caveolinopathy, is related to rippling muscle disease 2 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 Endocytosis and Focal adhesion.

Wikipedia : 76 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

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

# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 11.2
2 autosomal dominant limb-girdle muscular dystrophy type 1c 11.1
3 muscular dystrophy, limb-girdle, type 1c 11.0
4 muscle disorders 9.9
5 muscular dystrophy 9.9
6 limb-girdle muscular dystrophy 9.8

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:

# Genetic test Affiliating Genes
1 Caveolinopathy 29

Anatomical Context for Caveolinopathies

Publications for Caveolinopathies

Articles related to Caveolinopathies:

(show all 12)
# 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
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. ( 11786420 )
2002
9
Caveolin-3 deficiency causes muscle degeneration in mice. ( 11115849 )
2000
10
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. ( 10746614 )
2000
11
Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. ( 10223848 )
1999
12
Caveolinopathies ( 20301559 )
1993

Variations for Caveolinopathies

ClinVar genetic disease variations for Caveolinopathies:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.-33G> T single nucleotide variant Conflicting interpretations of pathogenicity rs72546666 GRCh37 Chromosome 3, 8775530: 8775530
2 CAV3 NM_033337.2(CAV3): c.-33G> T single nucleotide variant Conflicting interpretations of pathogenicity rs72546666 GRCh38 Chromosome 3, 8733844: 8733844
3 CAV3 NM_033337.2(CAV3): c.259C> T (p.Leu87Phe) single nucleotide variant Uncertain significance rs768764242 GRCh38 Chromosome 3, 8745670: 8745670
4 CAV3 NM_033337.2(CAV3): c.259C> T (p.Leu87Phe) single nucleotide variant Uncertain significance rs768764242 GRCh37 Chromosome 3, 8787356: 8787356
5 CAV3 NM_033337.2(CAV3): c.*592G> A single nucleotide variant Uncertain significance rs187370461 GRCh38 Chromosome 3, 8746459: 8746459
6 CAV3 NM_033337.2(CAV3): c.*592G> A single nucleotide variant Uncertain significance rs187370461 GRCh37 Chromosome 3, 8788145: 8788145
7 CAV3 NM_033337.2(CAV3): c.*277G> A single nucleotide variant Uncertain significance rs184247243 GRCh38 Chromosome 3, 8746144: 8746144
8 CAV3 NM_033337.2(CAV3): c.*277G> A single nucleotide variant Uncertain significance rs184247243 GRCh37 Chromosome 3, 8787830: 8787830
9 CAV3 NM_033337.2(CAV3): c.*467T> C single nucleotide variant Uncertain significance rs886058917 GRCh38 Chromosome 3, 8746334: 8746334
10 CAV3 NM_033337.2(CAV3): c.*467T> C single nucleotide variant Uncertain significance rs886058917 GRCh37 Chromosome 3, 8788020: 8788020
11 CAV3 NM_033337.2(CAV3): c.*741G> A single nucleotide variant Uncertain significance rs560215660 GRCh38 Chromosome 3, 8746608: 8746608
12 CAV3 NM_033337.2(CAV3): c.*741G> A single nucleotide variant Uncertain significance rs560215660 GRCh37 Chromosome 3, 8788294: 8788294
13 CAV3 NM_033337.2(CAV3): c.*813delC deletion Likely benign rs886058919 GRCh38 Chromosome 3, 8746680: 8746680
14 CAV3 NM_033337.2(CAV3): c.*813delC deletion Likely benign rs886058919 GRCh37 Chromosome 3, 8788366: 8788366
15 CAV3 NM_033337.2(CAV3): c.*834A> T single nucleotide variant Uncertain significance rs771619043 GRCh38 Chromosome 3, 8746701: 8746701
16 CAV3 NM_033337.2(CAV3): c.*834A> T single nucleotide variant Uncertain significance rs771619043 GRCh37 Chromosome 3, 8788387: 8788387
17 CAV3 NM_033337.2(CAV3): c.*433C> T single nucleotide variant Uncertain significance rs886058916 GRCh38 Chromosome 3, 8746300: 8746300
18 CAV3 NM_033337.2(CAV3): c.*433C> T single nucleotide variant Uncertain significance rs886058916 GRCh37 Chromosome 3, 8787986: 8787986
19 CAV3 NM_033337.2(CAV3): c.*722G> A single nucleotide variant Uncertain significance rs541417547 GRCh38 Chromosome 3, 8746589: 8746589
20 CAV3 NM_033337.2(CAV3): c.*722G> A single nucleotide variant Uncertain significance rs541417547 GRCh37 Chromosome 3, 8788275: 8788275
21 CAV3 NM_033337.2(CAV3): c.*763G> A single nucleotide variant Uncertain significance rs185369734 GRCh38 Chromosome 3, 8746630: 8746630
22 CAV3 NM_033337.2(CAV3): c.*763G> A single nucleotide variant Uncertain significance rs185369734 GRCh37 Chromosome 3, 8788316: 8788316
23 CAV3 NM_033337.2(CAV3): c.*805C> A single nucleotide variant Uncertain significance rs186579720 GRCh38 Chromosome 3, 8746672: 8746672
24 CAV3 NM_033337.2(CAV3): c.*805C> A single nucleotide variant Uncertain significance rs186579720 GRCh37 Chromosome 3, 8788358: 8788358
25 CAV3 NM_033337.2(CAV3): c.*853T> C single nucleotide variant Uncertain significance rs886058920 GRCh38 Chromosome 3, 8746720: 8746720
26 CAV3 NM_033337.2(CAV3): c.*853T> C single nucleotide variant Uncertain significance rs886058920 GRCh37 Chromosome 3, 8788406: 8788406
27 CAV3 NM_033337.2(CAV3): c.*276C> T single nucleotide variant Likely benign rs77367257 GRCh38 Chromosome 3, 8746143: 8746143
28 CAV3 NM_033337.2(CAV3): c.*276C> T single nucleotide variant Likely benign rs77367257 GRCh37 Chromosome 3, 8787829: 8787829
29 CAV3 NM_033337.2(CAV3): c.*725T> C single nucleotide variant Uncertain significance rs886058918 GRCh38 Chromosome 3, 8746592: 8746592
30 CAV3 NM_033337.2(CAV3): c.*725T> C single nucleotide variant Uncertain significance rs886058918 GRCh37 Chromosome 3, 8788278: 8788278
31 CAV3 NM_033337.2(CAV3): c.*788C> A single nucleotide variant Uncertain significance rs181285740 GRCh38 Chromosome 3, 8746655: 8746655
32 CAV3 NM_033337.2(CAV3): c.*788C> A single nucleotide variant Uncertain significance rs181285740 GRCh37 Chromosome 3, 8788341: 8788341
33 CAV3 NM_033337.2(CAV3): c.*852G> A single nucleotide variant Uncertain significance rs555268992 GRCh38 Chromosome 3, 8746719: 8746719
34 CAV3 NM_033337.2(CAV3): c.*852G> A single nucleotide variant Uncertain significance rs555268992 GRCh37 Chromosome 3, 8788405: 8788405

Expression for Caveolinopathies

Search GEO for disease gene expression data for Caveolinopathies.

Pathways for Caveolinopathies

Pathways related to Caveolinopathies according to KEGG:

37
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

GO Terms for Caveolinopathies

Sources for Caveolinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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