MCID: QLT009
MIFTS: 18

Qualitative or Quantitative Defects of Caveolin-3

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Caveolin-3

MalaCards integrated aliases for Qualitative or Quantitative Defects of Caveolin-3:

Name: Qualitative or Quantitative Defects of Caveolin-3 58
Caveolinopathy 58 29 6

Classifications:



External Ids:

Orphanet 58 ORPHA207078

Summaries for Qualitative or Quantitative Defects of Caveolin-3

MalaCards based summary : Qualitative or Quantitative Defects of Caveolin-3, also known as caveolinopathy, is related to rippling muscle disease 2 and muscular dystrophy. Affiliated tissues include skeletal muscle.

Related Diseases for Qualitative or Quantitative Defects of Caveolin-3

Diseases related to Qualitative or Quantitative Defects of Caveolin-3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 11.9
2 muscular dystrophy 10.4
3 limb-girdle muscular dystrophy 10.4
4 myopathy 10.4
5 miyoshi muscular dystrophy 10.4
6 hypertrophic cardiomyopathy 10.3
7 cardiomyopathy, familial hypertrophic, 1 10.2
8 familial long qt syndrome 10.2
9 creatine phosphokinase, elevated serum 10.1
10 long qt syndrome 1 10.1
11 long qt syndrome 9 10.1
12 myopathy, distal, tateyama type 10.1
13 limb-girdle muscular dystrophy type 1c 10.1
14 skeletal muscle disease 10.1
15 cardiomyopathy, familial hypertrophic, 2 10.0
16 cardiomyopathy, familial hypertrophic, 3 10.0
17 cardiomyopathy, familial hypertrophic, 4 10.0
18 cardiomyopathy, familial hypertrophic, 6 10.0
19 cardiomyopathy, dilated, 1c, with or without left ventricular noncompaction 10.0
20 cardiomyopathy, familial hypertrophic, 25 10.0
21 cardiomyopathy, familial hypertrophic, 8 10.0
22 cardiomyopathy, familial hypertrophic, 10 10.0
23 cardiomyopathy, familial hypertrophic, 11 10.0
24 cardiomyopathy, familial hypertrophic, 12 10.0
25 cardiomyopathy, dilated, 1aa, with or without left ventricular noncompaction 10.0
26 cardiomyopathy, familial hypertrophic, 13 10.0
27 cardiomyopathy, familial hypertrophic, 14 10.0
28 cardiomyopathy, familial hypertrophic, 15 10.0
29 long qt syndrome 2 10.0
30 cardiomyopathy, familial hypertrophic, 7 10.0
31 cardiomyopathy, familial hypertrophic, 9 10.0
32 cardiomyopathy, familial hypertrophic, 16 10.0
33 cardiomyopathy, familial hypertrophic, 17 10.0
34 cardiomyopathy, familial hypertrophic, 18 10.0
35 cardiomyopathy, familial hypertrophic, 20 10.0
36 muscle hypertrophy 10.0
37 cardiomyopathy, familial hypertrophic, 21 10.0
38 cardiomyopathy, dilated, 1kk 10.0
39 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.0
40 cardiomyopathy, familial hypertrophic, 26 10.0
41 cardiomyopathy, familial hypertrophic 27 10.0
42 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.0
43 congenital generalized lipodystrophy 10.0
44 myoglobinuria 10.0
45 isolated elevated serum creatine phosphokinase levels 10.0
46 dilated cardiomyopathy 10.0
47 long qt syndrome 10.0
48 malignant hyperthermia 10.0
49 hypoglycemia 10.0

Graphical network of the top 20 diseases related to Qualitative or Quantitative Defects of Caveolin-3:



Diseases related to Qualitative or Quantitative Defects of Caveolin-3

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Caveolin-3

Drugs & Therapeutics for Qualitative or Quantitative Defects of Caveolin-3

Search Clinical Trials , NIH Clinical Center for Qualitative or Quantitative Defects of Caveolin-3

Genetic Tests for Qualitative or Quantitative Defects of Caveolin-3

Genetic tests related to Qualitative or Quantitative Defects of Caveolin-3:

# Genetic test Affiliating Genes
1 Caveolinopathy 29

Anatomical Context for Qualitative or Quantitative Defects of Caveolin-3

MalaCards organs/tissues related to Qualitative or Quantitative Defects of Caveolin-3:

40
Skeletal Muscle

Publications for Qualitative or Quantitative Defects of Caveolin-3

Articles related to Qualitative or Quantitative Defects of Caveolin-3:

(show all 28)
# Title Authors PMID Year
1
Caveolinopathies – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61 6
20301559 2007
2
Differential diagnosis of vacuolar myopathies in the NGS era. 61
32419263 2020
3
Significance of Asymptomatic Hyper Creatine-Kinase Emia. 61
31743252 2019
4
Characteristic findings of skeletal muscle MRI in caveolinopathies. 61
30174172 2018
5
Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. 61
29215735 2018
6
Biochemical and pathological changes result from mutated Caveolin-3 in muscle. 61
30153853 2018
7
Mutation in the caveolin-3 gene causes asymmetrical distal myopathy. 61
26947586 2016
8
Caveolinopathies in Greece. 61
26185955 2015
9
Cavin 1 function does not follow caveolar morphology. 61
25904680 2015
10
Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. 61
25873780 2014
11
Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1). 61
24019929 2013
12
Adult-onset muscular dystrophy in a cat associated with a presumptive alteration in trafficking of caveolin-3. 61
22304973 2012
13
Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes. 61
22245016 2012
14
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 61
20472890 2010
15
Aquaporin expression in normal and pathological skeletal muscles: a brief review with focus on AQP4. 61
20339523 2010
16
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 61
19287313 2009
17
Sarcoplasmic hexagonally cross-linked tubular arrays immunostain for caveolin-3: an excess caveolinopathy? 61
19184067 2009
18
Caveolinopathy--new mutations and additional symptoms. 61
18583131 2008
19
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 61
17994539 2008
20
Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. 61
17897828 2008
21
Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. 61
17537631 2007
22
Limb-girdle muscular dystrophy in the United States. 61
17021404 2006
23
Molecular and muscle pathology in a series of caveolinopathy patients. 61
15580566 2005
24
Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. 61
14749532 2003
25
Rippling muscle disease in childhood. 61
12269726 2002
26
Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies. 61
12139001 2002
27
Sarcolemmopathy: muscular dystrophies with cell membrane defects. 61
11303797 2001
28
Caveolin-3 deficiency causes muscle degeneration in mice. 61
11115849 2000

Variations for Qualitative or Quantitative Defects of Caveolin-3

ClinVar genetic disease variations for Qualitative or Quantitative Defects of Caveolin-3:

6 (show top 50) (show all 52) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAV3 NM_033337.3(CAV3):c.233C>T (p.Thr78Met)SNV Conflicting interpretations of pathogenicity 8293 rs72546668 3:8787330-8787330 3:8745644-8745644
2 CAV3 NM_033337.2(CAV3):c.-37G>ASNV Conflicting interpretations of pathogenicity 31739 rs116840771 3:8775526-8775526 3:8733840-8733840
3 CAV3 NM_001234.5(CAV3):c.417C>T (p.Val139=)SNV Conflicting interpretations of pathogenicity 35804 rs147250678 3:8787514-8787514 3:8745828-8745828
4 CAV3 NM_033337.3(CAV3):c.276C>T (p.Phe92=)SNV Conflicting interpretations of pathogenicity 46534 rs72546669 3:8787373-8787373 3:8745687-8745687
5 CAV3 NM_033337.3(CAV3):c.336C>T (p.Ile112=)SNV Conflicting interpretations of pathogenicity 46536 rs139985460 3:8787433-8787433 3:8745747-8745747
6 CAV3 NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)SNV Conflicting interpretations of pathogenicity 96240 rs140575619 3:8787540-8787540 3:8745854-8745854
7 CAV3 NM_033337.3(CAV3):c.201C>A (p.Val67=)SNV Conflicting interpretations of pathogenicity 136659 rs201593267 3:8787298-8787298 3:8745612-8745612
8 CAV3 NM_033337.2(CAV3):c.-33G>TSNV Conflicting interpretations of pathogenicity 180795 rs72546666 3:8775530-8775530 3:8733844-8733844
9 CAV3 NM_001234.5(CAV3):c.442C>T (p.Arg148Trp)SNV Conflicting interpretations of pathogenicity 180801 rs730880422 3:8787539-8787539 3:8745853-8745853
10 CAV3 NM_033337.2(CAV3):c.*277G>ASNV Conflicting interpretations of pathogenicity 346851 rs184247243 3:8787830-8787830 3:8746144-8746144
11 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)SNV Conflicting interpretations of pathogenicity 8279 rs116840776 3:8787313-8787313 3:8745627-8745627
12 CAV3 NM_033337.2(CAV3):c.*763G>ASNV Conflicting interpretations of pathogenicity 346858 rs185369734 3:8788316-8788316 3:8746630-8746630
13 CAV3 NM_033337.2(CAV3):c.*805C>ASNV Conflicting interpretations of pathogenicity 346860 rs186579720 3:8788358-8788358 3:8746672-8746672
14 CAV3 NM_033337.2(CAV3):c.*788C>ASNV Conflicting interpretations of pathogenicity 346859 rs181285740 3:8788341-8788341 3:8746655-8746655
15 CAV3 NM_033337.2(CAV3):c.*85C>ASNV Conflicting interpretations of pathogenicity 377627 rs934971470 3:8787638-8787638 3:8745952-8745952
16 CAV3 NM_033337.2(CAV3):c.*725T>CSNV Uncertain significance 346856 rs886058918 3:8788278-8788278 3:8746592-8746592
17 CAV3 NM_033337.2(CAV3):c.*852G>ASNV Uncertain significance 346863 rs555268992 3:8788405-8788405 3:8746719-8746719
18 CAV3 NM_033337.2(CAV3):c.*853T>CSNV Uncertain significance 346864 rs886058920 3:8788406-8788406 3:8746720-8746720
19 CAV3 NM_033337.2(CAV3):c.191C>G (p.Thr64Ser)SNV Uncertain significance 8288 rs121909280 3:8787288-8787288 3:8745602-8745602
20 CAV3 NM_033337.2(CAV3):c.*834A>TSNV Uncertain significance 346862 rs771619043 3:8788387-8788387 3:8746701-8746701
21 CAV3 NM_033337.2(CAV3):c.*433C>TSNV Uncertain significance 346852 rs886058916 3:8787986-8787986 3:8746300-8746300
22 CAV3 NM_033337.2(CAV3):c.*722G>ASNV Uncertain significance 346855 rs541417547 3:8788275-8788275 3:8746589-8746589
23 CAV3 NM_033337.2(CAV3):c.*467T>CSNV Uncertain significance 346853 rs886058917 3:8788020-8788020 3:8746334-8746334
24 CAV3 NM_033337.2(CAV3):c.*741G>ASNV Uncertain significance 346857 rs560215660 3:8788294-8788294 3:8746608-8746608
25 CAV3 NM_033337.3(CAV3):c.*13C>ASNV Uncertain significance 900583 3:8787566-8787566 3:8745880-8745880
26 CAV3 NM_033337.3(CAV3):c.*658T>ASNV Uncertain significance 903140 3:8788211-8788211 3:8746525-8746525
27 CAV3 NM_033337.2(CAV3):c.259C>T (p.Leu87Phe)SNV Uncertain significance 346849 rs768764242 3:8787356-8787356 3:8745670-8745670
28 CAV3 NM_033337.2(CAV3):c.*592G>ASNV Uncertain significance 346854 rs187370461 3:8788145-8788145 3:8746459-8746459
29 CAV3 NM_033337.3(CAV3):c.*86G>ASNV Uncertain significance 900586 3:8787639-8787639 3:8745953-8745953
30 CAV3 NM_033337.3(CAV3):c.*134G>ASNV Uncertain significance 900587 3:8787687-8787687 3:8746001-8746001
31 CAV3 NM_033337.3(CAV3):c.*193T>CSNV Uncertain significance 900588 3:8787746-8787746 3:8746060-8746060
32 CAV3 NM_033337.3(CAV3):c.*312G>ASNV Uncertain significance 902269 3:8787865-8787865 3:8746179-8746179
33 CAV3 NM_033337.3(CAV3):c.*435T>ASNV Uncertain significance 902271 3:8787988-8787988 3:8746302-8746302
34 CAV3 NM_033337.3(CAV3):c.*440G>ASNV Uncertain significance 902272 3:8787993-8787993 3:8746307-8746307
35 CAV3 NM_033337.3(CAV3):c.*441T>CSNV Uncertain significance 902273 3:8787994-8787994 3:8746308-8746308
36 CAV3 NM_001234.5(CAV3):c.*717deldeletion Likely benign 346861 rs66667169 3:8788364-8788364 3:8746678-8746678
37 CAV3 NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)SNV Benign/Likely benign 8278 rs72546667 3:8787263-8787263 3:8745577-8745577
38 CAV3 NM_033337.2(CAV3):c.*645A>TSNV Benign/Likely benign 31706 rs11476 3:8788198-8788198 3:8746512-8746512
39 CAV3 NM_033337.2(CAV3):c.*811C>GSNV Benign/Likely benign 31707 rs10882 3:8788364-8788364 3:8746678-8746678
40 CAV3 NM_033337.3(CAV3):c.99C>T (p.Asn33=)SNV Benign/Likely benign 31709 rs1008642 3:8775661-8775661 3:8733975-8733975
41 CAV3 NM_033337.3(CAV3):c.204C>A (p.Ser68=)SNV Benign/Likely benign 31711 rs116840775 3:8787301-8787301 3:8745615-8745615
42 CAV3 NM_033337.3(CAV3):c.171G>A (p.Val57=)SNV Benign/Likely benign 31714 rs61147808 3:8787268-8787268 3:8745582-8745582
43 CAV3 NM_033337.3(CAV3):c.27C>T (p.Leu9=)SNV Benign/Likely benign 31716 rs1974763 3:8775589-8775589 3:8733903-8733903
44 CAV3 NM_033337.3(CAV3):c.123T>C (p.Phe41=)SNV Benign/Likely benign 31717 rs13087941 3:8787220-8787220 3:8745534-8745534
45 CAV3 NM_033337.2(CAV3):c.*543T>CSNV Benign/Likely benign 31718 rs13093809 3:8788096-8788096 3:8746410-8746410
46 CAV3 NM_033337.2(CAV3):c.*783A>GSNV Benign/Likely benign 31720 rs7629329 3:8788336-8788336 3:8746650-8746650
47 CAV3 NM_033337.2(CAV3):c.*276C>TSNV Benign/Likely benign 346850 rs77367257 3:8787829-8787829 3:8746143-8746143
48 CAV3 NM_033337.3(CAV3):c.*569G>ASNV Benign 903138 3:8788122-8788122 3:8746436-8746436
49 CAV3 NM_033337.3(CAV3):c.*598G>CSNV Benign 903139 3:8788151-8788151 3:8746465-8746465
50 CAV3 NM_033337.3(CAV3):c.*340G>ASNV Benign 902270 3:8787893-8787893 3:8746207-8746207

Expression for Qualitative or Quantitative Defects of Caveolin-3

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Caveolin-3.

Pathways for Qualitative or Quantitative Defects of Caveolin-3

GO Terms for Qualitative or Quantitative Defects of Caveolin-3

Sources for Qualitative or Quantitative Defects of Caveolin-3

3 CDC
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