Aliases & Classifications for Caveolinopathies

MalaCards integrated aliases for Caveolinopathies:

Name: Caveolinopathies 24
Caveolin-3 Deficiency 24

Characteristics:

GeneReviews:

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

Summaries for Caveolinopathies

MalaCards based summary : Caveolinopathies, also known as caveolin-3 deficiency, is related to myopathy and miyoshi muscular dystrophy. An important gene associated with Caveolinopathies is CAV3 (Caveolin 3), and among its related pathways/superpathways are RNA Polymerase II Transcription Initiation And Promoter Clearance and RhoGDI Pathway. Affiliated tissues include skeletal muscle, breast and smooth muscle, and related phenotype is muscle.

Wikipedia : 75 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:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 myopathy 30.2 MYH7 CAV3
2 miyoshi muscular dystrophy 30.0 MYH7 CAV3
3 long qt syndrome 1 29.8 MYLK2 CAV3
4 hypertrophic cardiomyopathy 29.1 MYH7 MYH6 CAV3
5 muscle hypertrophy 29.1 MYH7 MYH6
6 cardiomyopathy, familial hypertrophic, 1 28.3 MYLK2 MYH7 MYH6 CAV3
7 rippling muscle disease 2 11.9
8 qualitative or quantitative defects of caveolin-3 11.8
9 muscular dystrophy 10.5
10 limb-girdle muscular dystrophy 10.5
11 isolated hyperckemia 10.2
12 familial long qt syndrome 10.2
13 creatine phosphokinase, elevated serum 10.1
14 long qt syndrome 9 10.1
15 myopathy, distal, tateyama type 10.1
16 limb-girdle muscular dystrophy type 1c 10.1
17 skeletal muscle disease 10.1
18 cardiomyopathy, familial hypertrophic, 2 10.0
19 cardiomyopathy, familial hypertrophic, 3 10.0
20 cardiomyopathy, familial hypertrophic, 4 10.0
21 cardiomyopathy, familial hypertrophic, 6 10.0
22 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 10.0
23 cardiomyopathy, familial hypertrophic, 25 10.0
24 cardiomyopathy, familial hypertrophic, 8 10.0
25 cardiomyopathy, familial hypertrophic, 10 10.0
26 cardiomyopathy, familial hypertrophic, 11 10.0
27 cardiomyopathy, familial hypertrophic, 12 10.0
28 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 10.0
29 cardiomyopathy, familial hypertrophic, 13 10.0
30 cardiomyopathy, familial hypertrophic, 14 10.0
31 cardiomyopathy, familial hypertrophic, 15 10.0
32 long qt syndrome 2 10.0
33 cardiomyopathy, familial hypertrophic, 7 10.0
34 cardiomyopathy, familial hypertrophic, 9 10.0
35 cardiomyopathy, familial hypertrophic, 16 10.0
36 cardiomyopathy, familial hypertrophic, 17 10.0
37 cardiomyopathy, familial hypertrophic, 18 10.0
38 cardiomyopathy, familial hypertrophic, 20 10.0
39 cardiomyopathy, familial hypertrophic, 21 10.0
40 cardiomyopathy, dilated, 1kk 10.0
41 cardiomyopathy, familial hypertrophic, 26 10.0
42 cardiomyopathy, familial hypertrophic 27 10.0
43 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
44 congenital generalized lipodystrophy 10.0
45 myoglobinuria 10.0
46 dilated cardiomyopathy 10.0
47 long qt syndrome 10.0
48 malignant hyperthermia 10.0
49 hypoglycemia 10.0
50 autosomal dominant limb-girdle muscular dystrophy 9.9

Graphical network of the top 20 diseases related to Caveolinopathies:



Diseases related to Caveolinopathies

Symptoms & Phenotypes for Caveolinopathies

MGI Mouse Phenotypes related to Caveolinopathies:

46
# 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

Anatomical Context for Caveolinopathies

MalaCards organs/tissues related to Caveolinopathies:

41
Skeletal Muscle, Breast, Smooth Muscle

Publications for Caveolinopathies

Articles related to Caveolinopathies:

(show top 50) (show all 89)
# Title Authors PMID Year
1
Caveolinopathies: from the biology of caveolin-3 to human diseases. 38 4
19584897 2010
2
Caveolinopathy--new mutations and additional symptoms. 38 4
18583131 2008
3
Molecular and muscle pathology in a series of caveolinopathy patients. 38 4
15580566 2005
4
Two novel CAV3 gene mutations in Japanese families. 38 4
15564037 2004
5
Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. 38 4
14981167 2004
6
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 38 4
14663034 2003
7
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 38 4
12666119 2003
8
Consequences of a novel caveolin-3 mutation in a large German family. 38 4
12557291 2003
9
Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene. 38 4
12082049 2002
10
Caveolin-3 deficiency causes muscle degeneration in mice. 38 4
11115849 2000
11
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. 38 4
11001938 2000
12
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 38 4
10746614 2000
13
Caveolin-3 deficiency as a cause of limb-girdle muscular dystrophy. 38 4
10223848 1999
14
Frequency of LGMD gene mutations in Italian patients with distinct clinical phenotypes. 4
19380703 2009
15
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 4
18930476 2009
16
Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease. 4
18487559 2008
17
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. 4
17275750 2007
18
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. 4
17060380 2006
19
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. 4
16730439 2006
20
Familial idiopathic hyper-CK-emia: an underrecognized condition. 4
16502425 2006
21
Spatial and temporal regulation of GLUT4 translocation by flotillin-1 and caveolin-3 in skeletal muscle cells. 4
16455755 2006
22
Aberrant dysferlin trafficking in cells lacking caveolin or expressing dystrophy mutants of caveolin-3. 4
16319126 2006
23
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 4
15668980 2005
24
Phenotypic variability associated with Arg26Gln mutation in caveolin3. 4
15318349 2004
25
Novel missense mutation in the caveolin-3 gene in a Belgian family with rippling muscle disease. 4
15314133 2004
26
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia. 4
15099591 2004
27
The caveolin proteins. 4
15003112 2004
28
Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. 4
14672715 2004
29
The biology of caveolae: lessons from caveolin knockout mice and implications for human disease. 4
14993453 2003
30
A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. 4
14600260 2003
31
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases. 4
14633633 2003
32
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease. 4
12839838 2003
33
Modulation of myoblast fusion by caveolin-3 in dystrophic skeletal muscle cells: implications for Duchenne muscular dystrophy and limb-girdle muscular dystrophy-1C. 4
14517320 2003
34
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 4
12939441 2003
35
Caveolin-3 gene mutation in Japanese with rippling muscle disease. 4
12807393 2003
36
Rippling muscle disease in childhood. 4
12269726 2002
37
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 4
11805270 2002
38
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 4
11756609 2001
39
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. 4
11532985 2001
40
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 4
11431690 2001
41
The earliest pathologic alterations in dysferlinopathy. 4
11402103 2001
42
Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members. 4
10988290 2000
43
Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3. 4
10973975 2000
44
Targeted down-regulation of caveolin-3 is sufficient to inhibit myotube formation in differentiating C2C12 myoblasts. Transient activation of p38 mitogen-activated protein kinase is required for induction of caveolin-3 expression and subsequent myotube formation. 4
10514527 1999
45
Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex. 4
10464299 1999
46
Caveolin-3 in muscular dystrophy. 4
9536092 1998
47
Caveolin-3 is not an integral component of the dystrophin glycoprotein complex. 4
9607328 1998
48
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 4
9537420 1998
49
Social adjustment in adult males affected with progressive muscular dystrophy. 4
9514580 1998
50
Dissecting the interaction between nitric oxide synthase (NOS) and caveolin. Functional significance of the nos caveolin binding domain in vivo. 4
9325253 1997

Variations for Caveolinopathies

Expression for Caveolinopathies

Search GEO for disease gene expression data for Caveolinopathies.

Pathways for Caveolinopathies

Pathways related to Caveolinopathies according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.36 MYLK2 MYH7 MYH6
2
Show member pathways
11.84 MYH7 MYH6
3
Show member pathways
11.69 MYLK2 MYH7 MYH6
4
Show member pathways
11.67 MYH7 MYH6
5 11.19 MYH7 MYH6
6
Show member pathways
11.14 MYLK2 MYH7 MYH6
7 10.98 MYH7 MYH6
8 10.95 MYH7 MYH6
9 10.51 MYH7 MYH6

GO Terms for Caveolinopathies

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

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

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

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

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

# Name GO ID Score Top Affiliating Genes
1 ATPase activity GO:0016887 9.37 MYH7 MYH6
2 actin filament binding GO:0051015 9.32 MYH7 MYH6
3 motor activity GO:0003774 9.26 MYH7 MYH6
4 microfilament motor activity GO:0000146 9.16 MYH7 MYH6
5 calmodulin binding GO:0005516 9.13 MYLK2 MYH7 MYH6
6 actin-dependent ATPase activity GO:0030898 8.62 MYH7 MYH6

Sources for Caveolinopathies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
Content
Loading form....