Aliases & Classifications for Caveolinopathies

MalaCards integrated aliases for Caveolinopathies:

Name: Caveolinopathies 25
Caveolinopathy 30 6
Caveolin-3 Deficiency 25
Caveolin-3 13

Characteristics:

GeneReviews:

25
Penetrance Cav3 pathogenic variants are characterized by high penetrance...

Summaries for Caveolinopathies

MalaCards based summary : Caveolinopathies, also known as caveolinopathy, is related to rippling muscle disease 2 and limb-girdle muscular dystrophy type 1c. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3). Affiliated tissues include skeletal muscle, heart and thyroid.

Wikipedia : 77 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

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 30

Anatomical Context for Caveolinopathies

MalaCards organs/tissues related to Caveolinopathies:

42
Skeletal Muscle, Heart, Thyroid

Publications for Caveolinopathies

Articles related to Caveolinopathies:

(show all 14)
# Title Authors Year
1
Characteristic findings of skeletal muscle MRI in caveolinopathies. ( 30174172 )
2018
2
Caveolin 3 deficiency myopathy associated with dyslipidemia: Treatment challenges and possible pathophysiological association. ( 28807458 )
2017
3
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. ( 27312022 )
2016
4
Caveolinopathies in Greece. ( 26185955 )
2015
5
Caveolinopathies: translational implications of caveolin-3 in skeletal and cardiac muscle disorders. ( 21496630 )
2011
6
Caveolinopathies: from the biology of caveolin-3 to human diseases. ( 19584897 )
2010
7
Sarcoplasmic hexagonally cross-linked tubular arrays immunostain for caveolin-3: an excess caveolinopathy? ( 19184067 )
2009
8
Caveolinopathy--new mutations and additional symptoms. ( 18583131 )
2008
9
Molecular and muscle pathology in a series of caveolinopathy patients. ( 15580566 )
2005
10
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. ( 14981167 )
2004
11
Impairment of caveolae formation and T-system disorganization in human muscular dystrophy with caveolin-3 deficiency. ( 11786420 )
2002
12
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. ( 10746614 )
2000
13
Caveolin-3 deficiency causes muscle degeneration in mice. ( 11115849 )
2000
14
Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. ( 10223848 )
1999

Variations for Caveolinopathies

ClinVar genetic disease variations for Caveolinopathies:

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.*645A> T single nucleotide variant Likely benign rs11476 GRCh37 Chromosome 3, 8788198: 8788198
2 CAV3 NM_033337.2(CAV3): c.*645A> T single nucleotide variant Likely benign rs11476 GRCh38 Chromosome 3, 8746512: 8746512
3 CAV3 NM_033337.2(CAV3): c.*811C> G single nucleotide variant Likely benign rs10882 GRCh37 Chromosome 3, 8788364: 8788364
4 CAV3 NM_033337.2(CAV3): c.*811C> G single nucleotide variant Likely benign rs10882 GRCh38 Chromosome 3, 8746678: 8746678
5 CAV3 NM_033337.2(CAV3): c.99C> T (p.Asn33=) single nucleotide variant Benign/Likely benign rs1008642 GRCh37 Chromosome 3, 8775661: 8775661
6 CAV3 NM_033337.2(CAV3): c.99C> T (p.Asn33=) single nucleotide variant Benign/Likely benign rs1008642 GRCh38 Chromosome 3, 8733975: 8733975
7 CAV3 NM_033337.2(CAV3): c.171G> A (p.Val57=) single nucleotide variant Benign/Likely benign rs61147808 GRCh37 Chromosome 3, 8787268: 8787268
8 CAV3 NM_033337.2(CAV3): c.171G> A (p.Val57=) single nucleotide variant Benign/Likely benign rs61147808 GRCh38 Chromosome 3, 8745582: 8745582
9 CAV3 NM_033337.2(CAV3): c.27C> T (p.Leu9=) single nucleotide variant Benign/Likely benign rs1974763 GRCh37 Chromosome 3, 8775589: 8775589
10 CAV3 NM_033337.2(CAV3): c.27C> T (p.Leu9=) single nucleotide variant Benign/Likely benign rs1974763 GRCh38 Chromosome 3, 8733903: 8733903
11 CAV3 NM_033337.2(CAV3): c.123T> C (p.Phe41=) single nucleotide variant Benign/Likely benign rs13087941 GRCh37 Chromosome 3, 8787220: 8787220
12 CAV3 NM_033337.2(CAV3): c.123T> C (p.Phe41=) single nucleotide variant Benign/Likely benign rs13087941 GRCh38 Chromosome 3, 8745534: 8745534
13 CAV3 NM_033337.2(CAV3): c.*543T> C single nucleotide variant Likely benign rs13093809 GRCh37 Chromosome 3, 8788096: 8788096
14 CAV3 NM_033337.2(CAV3): c.*543T> C single nucleotide variant Likely benign rs13093809 GRCh38 Chromosome 3, 8746410: 8746410
15 CAV3 NM_033337.2(CAV3): c.*783A> G single nucleotide variant Likely benign rs7629329 GRCh37 Chromosome 3, 8788336: 8788336
16 CAV3 NM_033337.2(CAV3): c.*783A> G single nucleotide variant Likely benign rs7629329 GRCh38 Chromosome 3, 8746650: 8746650
17 CAV3 NM_033337.2(CAV3): c.-37G> A single nucleotide variant Conflicting interpretations of pathogenicity rs116840771 GRCh37 Chromosome 3, 8775526: 8775526
18 CAV3 NM_033337.2(CAV3): c.-37G> A single nucleotide variant Conflicting interpretations of pathogenicity rs116840771 GRCh38 Chromosome 3, 8733840: 8733840
19 CAV3 NM_033337.2(CAV3): c.417C> T (p.Val139=) single nucleotide variant Conflicting interpretations of pathogenicity rs147250678 GRCh37 Chromosome 3, 8787514: 8787514
20 CAV3 NM_033337.2(CAV3): c.417C> T (p.Val139=) single nucleotide variant Conflicting interpretations of pathogenicity rs147250678 GRCh38 Chromosome 3, 8745828: 8745828
21 CAV3 NM_033337.2(CAV3): c.-33G> T single nucleotide variant Conflicting interpretations of pathogenicity rs72546666 GRCh37 Chromosome 3, 8775530: 8775530
22 CAV3 NM_033337.2(CAV3): c.-33G> T single nucleotide variant Conflicting interpretations of pathogenicity rs72546666 GRCh38 Chromosome 3, 8733844: 8733844
23 CAV3 NM_033337.2(CAV3): c.259C> T (p.Leu87Phe) single nucleotide variant Uncertain significance rs768764242 GRCh38 Chromosome 3, 8745670: 8745670
24 CAV3 NM_033337.2(CAV3): c.259C> T (p.Leu87Phe) single nucleotide variant Uncertain significance rs768764242 GRCh37 Chromosome 3, 8787356: 8787356
25 CAV3 NM_033337.2(CAV3): c.*592G> A single nucleotide variant Uncertain significance rs187370461 GRCh38 Chromosome 3, 8746459: 8746459
26 CAV3 NM_033337.2(CAV3): c.*592G> A single nucleotide variant Uncertain significance rs187370461 GRCh37 Chromosome 3, 8788145: 8788145
27 CAV3 NM_033337.2(CAV3): c.*277G> A single nucleotide variant Uncertain significance rs184247243 GRCh38 Chromosome 3, 8746144: 8746144
28 CAV3 NM_033337.2(CAV3): c.*277G> A single nucleotide variant Uncertain significance rs184247243 GRCh37 Chromosome 3, 8787830: 8787830
29 CAV3 NM_033337.2(CAV3): c.*467T> C single nucleotide variant Uncertain significance rs886058917 GRCh38 Chromosome 3, 8746334: 8746334
30 CAV3 NM_033337.2(CAV3): c.*467T> C single nucleotide variant Uncertain significance rs886058917 GRCh37 Chromosome 3, 8788020: 8788020
31 CAV3 NM_033337.2(CAV3): c.*741G> A single nucleotide variant Uncertain significance rs560215660 GRCh38 Chromosome 3, 8746608: 8746608
32 CAV3 NM_033337.2(CAV3): c.*741G> A single nucleotide variant Uncertain significance rs560215660 GRCh37 Chromosome 3, 8788294: 8788294
33 CAV3 NM_033337.2(CAV3): c.*813delC deletion Likely benign rs66667169 GRCh38 Chromosome 3, 8746680: 8746680
34 CAV3 NM_033337.2(CAV3): c.*813delC deletion Likely benign rs66667169 GRCh37 Chromosome 3, 8788366: 8788366
35 CAV3 NM_033337.2(CAV3): c.*834A> T single nucleotide variant Uncertain significance rs771619043 GRCh38 Chromosome 3, 8746701: 8746701
36 CAV3 NM_033337.2(CAV3): c.*834A> T single nucleotide variant Uncertain significance rs771619043 GRCh37 Chromosome 3, 8788387: 8788387
37 CAV3 NM_033337.2(CAV3): c.*433C> T single nucleotide variant Uncertain significance rs886058916 GRCh38 Chromosome 3, 8746300: 8746300
38 CAV3 NM_033337.2(CAV3): c.*433C> T single nucleotide variant Uncertain significance rs886058916 GRCh37 Chromosome 3, 8787986: 8787986
39 CAV3 NM_033337.2(CAV3): c.*722G> A single nucleotide variant Uncertain significance rs541417547 GRCh38 Chromosome 3, 8746589: 8746589
40 CAV3 NM_033337.2(CAV3): c.*722G> A single nucleotide variant Uncertain significance rs541417547 GRCh37 Chromosome 3, 8788275: 8788275
41 CAV3 NM_033337.2(CAV3): c.*763G> A single nucleotide variant Uncertain significance rs185369734 GRCh38 Chromosome 3, 8746630: 8746630
42 CAV3 NM_033337.2(CAV3): c.*763G> A single nucleotide variant Uncertain significance rs185369734 GRCh37 Chromosome 3, 8788316: 8788316
43 CAV3 NM_033337.2(CAV3): c.*805C> A single nucleotide variant Uncertain significance rs186579720 GRCh38 Chromosome 3, 8746672: 8746672
44 CAV3 NM_033337.2(CAV3): c.*805C> A single nucleotide variant Uncertain significance rs186579720 GRCh37 Chromosome 3, 8788358: 8788358
45 CAV3 NM_033337.2(CAV3): c.*853T> C single nucleotide variant Uncertain significance rs886058920 GRCh38 Chromosome 3, 8746720: 8746720
46 CAV3 NM_033337.2(CAV3): c.*853T> C single nucleotide variant Uncertain significance rs886058920 GRCh37 Chromosome 3, 8788406: 8788406
47 CAV3 NM_033337.2(CAV3): c.*276C> T single nucleotide variant Likely benign rs77367257 GRCh38 Chromosome 3, 8746143: 8746143
48 CAV3 NM_033337.2(CAV3): c.*276C> T single nucleotide variant Likely benign rs77367257 GRCh37 Chromosome 3, 8787829: 8787829
49 CAV3 NM_033337.2(CAV3): c.*725T> C single nucleotide variant Uncertain significance rs886058918 GRCh38 Chromosome 3, 8746592: 8746592
50 CAV3 NM_033337.2(CAV3): c.*725T> C single nucleotide variant Uncertain significance rs886058918 GRCh37 Chromosome 3, 8788278: 8788278

Expression for Caveolinopathies

Search GEO for disease gene expression data for Caveolinopathies.

Pathways for Caveolinopathies

GO Terms for Caveolinopathies

Sources for Caveolinopathies

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10 dbSNP
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17 EFO
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
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75 UMLS via Orphanet
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