Qualitative or Quantitative Defects of Caveolin-3

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

Caveolinopathy 58 29 6

Classifications:

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

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

#	Genetic test	Affiliating Genes
1	Caveolinopathy 29

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	Bruno C...Lisanti MP	20301559	2007
2	Differential diagnosis of vacuolar myopathies in the NGS era. 61	Mair D...Weis J	32419263	2020
3	Significance of Asymptomatic Hyper Creatine-Kinase Emia. 61	Finsterer J...Scorza CA	31743252	2019
4	Characteristic findings of skeletal muscle MRI in caveolinopathies. 61	Ishiguro K...Ishigaki K	30174172	2018
5	Vacuolated PAS-positive lymphocytes as an hallmark of Pompe disease and other myopathies related to impaired autophagy. 61	Pascarella A...Sampaolo S	29215735	2018
6	Biochemical and pathological changes result from mutated Caveolin-3 in muscle. 61	Gonzalez Coraspe JA...Roos A	30153853	2018
7	Mutation in the caveolin-3 gene causes asymmetrical distal myopathy. 61	Chen J...Tong X	26947586	2016
8	Caveolinopathies in Greece. 61	Papadopoulos C...Manta P	26185955	2015
9	Cavin 1 function does not follow caveolar morphology. 61	Timmel T...Spuler S	25904680	2015
10	Muscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophy. 61	Angelini C...Fanin M	25873780	2014
11	Altered expression of cyclin A 1 in muscle of patients with facioscapulohumeral muscle dystrophy (FSHD-1). 61	Pakula A...Boschmann M	24019929	2013
12	Adult-onset muscular dystrophy in a cat associated with a presumptive alteration in trafficking of caveolin-3. 61	Salvadori C...Cantile C	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	Ricci G...Siciliano G	22245016	2012
14	Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling. 61	Brauers E...Kruttgen A	20472890	2010
15	Aquaporin expression in normal and pathological skeletal muscles: a brief review with focus on AQP4. 61	Wakayama Y	20339523	2010
16	Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 61	Fanin M...Angelini C	19287313	2009
17	Sarcoplasmic hexagonally cross-linked tubular arrays immunostain for caveolin-3: an excess caveolinopathy? 61	Lach B...Nguyen C	19184067	2009
18	Caveolinopathy--new mutations and additional symptoms. 61	Aboumousa A...Straub V	18583131	2008
19	Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 61	Guglieri M...Comi GP	17994539	2008
20	Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. 61	Lo HP...North KN	17897828	2008
21	Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. 61	Ueyama H...Kumamoto T	17537631	2007
22	Limb-girdle muscular dystrophy in the United States. 61	Moore SA...Mendell JR	17021404	2006
23	Molecular and muscle pathology in a series of caveolinopathy patients. 61	Fulizio L...Angelini C	15580566	2005
24	Dysferlin in a hyperCKaemic patient with caveolin 3 mutation and in C2C12 cells after p38 MAP kinase inhibition. 61	Capanni C...Squarzoni S	14749532	2003
25	Rippling muscle disease in childhood. 61	Schara U...Mortier W	12269726	2002
26	Sarcolemmal proteins and the spectrum of limb-girdle muscular dystrophies. 61	Bonnemann CG...Finkel RS	12139001	2002
27	Sarcolemmopathy: muscular dystrophies with cell membrane defects. 61	Ozawa E...Nonaka I	11303797	2001
28	Caveolin-3 deficiency causes muscle degeneration in mice. 61	Hagiwara Y...Kikuchi T	11115849	2000

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

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#	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>A	SNV	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>T	SNV	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>A	SNV	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>A	SNV	Conflicting interpretations of pathogenicity	346858	rs185369734	3:8788316-8788316	3:8746630-8746630
13	CAV3	NM_033337.2(CAV3):c.*805C>A	SNV	Conflicting interpretations of pathogenicity	346860	rs186579720	3:8788358-8788358	3:8746672-8746672
14	CAV3	NM_033337.2(CAV3):c.*788C>A	SNV	Conflicting interpretations of pathogenicity	346859	rs181285740	3:8788341-8788341	3:8746655-8746655
15	CAV3	NM_033337.2(CAV3):c.*85C>A	SNV	Conflicting interpretations of pathogenicity	377627	rs934971470	3:8787638-8787638	3:8745952-8745952
16	CAV3	NM_033337.2(CAV3):c.*725T>C	SNV	Uncertain significance	346856	rs886058918	3:8788278-8788278	3:8746592-8746592
17	CAV3	NM_033337.2(CAV3):c.*852G>A	SNV	Uncertain significance	346863	rs555268992	3:8788405-8788405	3:8746719-8746719
18	CAV3	NM_033337.2(CAV3):c.*853T>C	SNV	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>T	SNV	Uncertain significance	346862	rs771619043	3:8788387-8788387	3:8746701-8746701
21	CAV3	NM_033337.2(CAV3):c.*433C>T	SNV	Uncertain significance	346852	rs886058916	3:8787986-8787986	3:8746300-8746300
22	CAV3	NM_033337.2(CAV3):c.*722G>A	SNV	Uncertain significance	346855	rs541417547	3:8788275-8788275	3:8746589-8746589
23	CAV3	NM_033337.2(CAV3):c.*467T>C	SNV	Uncertain significance	346853	rs886058917	3:8788020-8788020	3:8746334-8746334
24	CAV3	NM_033337.2(CAV3):c.*741G>A	SNV	Uncertain significance	346857	rs560215660	3:8788294-8788294	3:8746608-8746608
25	CAV3	NM_033337.3(CAV3):c.*13C>A	SNV	Uncertain significance	900583		3:8787566-8787566	3:8745880-8745880
26	CAV3	NM_033337.3(CAV3):c.*658T>A	SNV	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>A	SNV	Uncertain significance	346854	rs187370461	3:8788145-8788145	3:8746459-8746459
29	CAV3	NM_033337.3(CAV3):c.*86G>A	SNV	Uncertain significance	900586		3:8787639-8787639	3:8745953-8745953
30	CAV3	NM_033337.3(CAV3):c.*134G>A	SNV	Uncertain significance	900587		3:8787687-8787687	3:8746001-8746001
31	CAV3	NM_033337.3(CAV3):c.*193T>C	SNV	Uncertain significance	900588		3:8787746-8787746	3:8746060-8746060
32	CAV3	NM_033337.3(CAV3):c.*312G>A	SNV	Uncertain significance	902269		3:8787865-8787865	3:8746179-8746179
33	CAV3	NM_033337.3(CAV3):c.*435T>A	SNV	Uncertain significance	902271		3:8787988-8787988	3:8746302-8746302
34	CAV3	NM_033337.3(CAV3):c.*440G>A	SNV	Uncertain significance	902272		3:8787993-8787993	3:8746307-8746307
35	CAV3	NM_033337.3(CAV3):c.*441T>C	SNV	Uncertain significance	902273		3:8787994-8787994	3:8746308-8746308
36	CAV3	NM_001234.5(CAV3):c.*717del	deletion	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>T	SNV	Benign/Likely benign	31706	rs11476	3:8788198-8788198	3:8746512-8746512
39	CAV3	NM_033337.2(CAV3):c.*811C>G	SNV	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>C	SNV	Benign/Likely benign	31718	rs13093809	3:8788096-8788096	3:8746410-8746410
46	CAV3	NM_033337.2(CAV3):c.*783A>G	SNV	Benign/Likely benign	31720	rs7629329	3:8788336-8788336	3:8746650-8746650
47	CAV3	NM_033337.2(CAV3):c.*276C>T	SNV	Benign/Likely benign	346850	rs77367257	3:8787829-8787829	3:8746143-8746143
48	CAV3	NM_033337.3(CAV3):c.*569G>A	SNV	Benign	903138		3:8788122-8788122	3:8746436-8746436
49	CAV3	NM_033337.3(CAV3):c.*598G>C	SNV	Benign	903139		3:8788151-8788151	3:8746465-8746465
50	CAV3	NM_033337.3(CAV3):c.*340G>A	SNV	Benign	902270		3:8787893-8787893	3:8746207-8746207