MCID: LMB030
MIFTS: 27

Limb-Girdle Muscular Dystrophy Type 1c

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Limb-Girdle Muscular Dystrophy Type 1c

MalaCards integrated aliases for Limb-Girdle Muscular Dystrophy Type 1c:

Name: Limb-Girdle Muscular Dystrophy Type 1c 20
Lgmd1c 20 54
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 20
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 20
Dystrophy, Muscular, Limb-Girdle, Type 1c 39
Muscular Dystrophy, Limb-Girdle, Type Ic 20
Limb-Girdle Muscular Dystrophy, Type 1c 6

Classifications:



Summaries for Limb-Girdle Muscular Dystrophy Type 1c

MalaCards based summary : Limb-Girdle Muscular Dystrophy Type 1c, also known as lgmd1c, is related to rippling muscle disease 2 and limb-girdle muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 1c is CAV3 (Caveolin 3), and among its related pathways/superpathways is Smooth Muscle Contraction. Affiliated tissues include skeletal muscle and endothelial, and related phenotype is muscle.

Related Diseases for Limb-Girdle Muscular Dystrophy Type 1c

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12 Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
Autosomal Dominant Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Limb-Girdle Muscular Dystrophy Type 1a Limb-Girdle Muscular Dystrophy Type 1b
Limb-Girdle Muscular Dystrophy Type 1c Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Limb-Girdle Muscular Dystrophy Type 1c via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 rippling muscle disease 2 31.8 SSUH2 DYSF CAV3
2 limb-girdle muscular dystrophy 29.8 FKRP DYSF CAV3
3 muscular dystrophy 29.0 SSUH2 MSTN FKRP DYSF CAV3
4 cav3-related distal myopathy 10.1 SSUH2 CAV3
5 myopathy, distal, tateyama type 10.1 SSUH2 CAV3
6 long qt syndrome 9 10.0 SSUH2 CAV3
7 creatine phosphokinase, elevated serum 10.0 SSUH2 CAV3
8 autosomal recessive limb-girdle muscular dystrophy type 2x 10.0 DYSF CAV3
9 muscular dystrophy, limb-girdle, autosomal dominant 1 10.0 DYSF CAV3
10 familial long qt syndrome 10.0 SSUH2 CAV3
11 centronuclear myopathy 9.8 DYSF CAV3
12 glycogen storage disease ii 9.8 FKRP CAV3
13 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 FKRP DYSF
14 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 FKRP DYSF
15 autosomal recessive limb-girdle muscular dystrophy type 2h 9.8 FKRP DYSF
16 autosomal recessive limb-girdle muscular dystrophy type 2c 9.8 FKRP DYSF
17 muscular dystrophy, limb-girdle, autosomal recessive 4 9.8 FKRP DYSF
18 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8 FKRP DYSF
19 muscular dystrophy, duchenne type 9.8 MSTN CAV3
20 x-linked recessive disease 9.8 MSTN DYSF
21 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8 FKRP DYSF
22 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 FKRP DYSF
23 muscular dystrophy-dystroglycanopathy 9.8 FKRP DYSF
24 muscle hypertrophy 9.8 MSTN FKRP
25 muscular dystrophy, congenital merosin-deficient, 1a 9.8 FKRP DYSF
26 muscular dystrophy-dystroglycanopathy , type c, 5 9.7 FKRP DYSF
27 myositis 9.7 MSTN DYSF
28 tibial muscular dystrophy 9.7 FKRP DYSF
29 nonaka myopathy 9.7 FKRP DYSF
30 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.7 FKRP DYSF
31 emery-dreifuss muscular dystrophy 9.7 FKRP DYSF
32 rigid spine muscular dystrophy 1 9.7 FKRP DYSF
33 ullrich congenital muscular dystrophy 1 9.7 FKRP DYSF
34 long qt syndrome 1 9.7 SSUH2 CAV3
35 bethlem myopathy 1 9.7 FKRP DYSF
36 limb-girdle muscular dystrophy type 1a 9.6 FKRP DYSF CAV3
37 autosomal recessive limb-girdle muscular dystrophy 9.6 FKRP DYSF CAV3
38 autosomal recessive limb-girdle muscular dystrophy type 2j 9.6 FKRP DYSF CAV3
39 autosomal recessive limb-girdle muscular dystrophy type 2f 9.6 FKRP DYSF CAV3
40 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 FKRP DYSF CAV3
41 muscular dystrophy, limb-girdle, autosomal dominant 2 9.6 FKRP DYSF CAV3
42 autosomal recessive limb-girdle muscular dystrophy type 2a 9.6 FKRP DYSF CAV3
43 autosomal recessive limb-girdle muscular dystrophy type 2d 9.6 FKRP DYSF CAV3
44 autosomal recessive limb-girdle muscular dystrophy type 2b 9.6 FKRP DYSF CAV3
45 miyoshi muscular dystrophy 9.6 FKRP DYSF CAV3
46 muscular dystrophy, limb-girdle, autosomal recessive 2 9.6 FKRP DYSF CAV3
47 facioscapulohumeral muscular dystrophy 1 9.5 FKRP DYSF CAV3
48 walker-warburg syndrome 9.5 FKRP DYSF CAV3
49 muscular dystrophy, becker type 9.5 MSTN FKRP DYSF
50 isolated elevated serum creatine phosphokinase levels 9.3 SSUH2 FKRP DYSF CAV3

Graphical network of the top 20 diseases related to Limb-Girdle Muscular Dystrophy Type 1c:



Diseases related to Limb-Girdle Muscular Dystrophy Type 1c

Symptoms & Phenotypes for Limb-Girdle Muscular Dystrophy Type 1c

MGI Mouse Phenotypes related to Limb-Girdle Muscular Dystrophy Type 1c:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.92 CAV3 DYSF FKRP MSTN

Drugs & Therapeutics for Limb-Girdle Muscular Dystrophy Type 1c

Search Clinical Trials , NIH Clinical Center for Limb-Girdle Muscular Dystrophy Type 1c

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 1c

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 1c

MalaCards organs/tissues related to Limb-Girdle Muscular Dystrophy Type 1c:

40
Skeletal Muscle, Endothelial

Publications for Limb-Girdle Muscular Dystrophy Type 1c

Articles related to Limb-Girdle Muscular Dystrophy Type 1c:

(show top 50) (show all 55)
# Title Authors PMID Year
1
Molecular and muscle pathology in a series of caveolinopathy patients. 6 61 54
15580566 2005
2
A CAV3 microdeletion differentially affects skeletal muscle and myocardium. 61 6 54
14663034 2003
3
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene. 54 6 61
12939441 2003
4
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease. 61 54 6
12666119 2003
5
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. 61 6 54
11431690 2001
6
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia. 54 6 61
10746614 2000
7
Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy. 6 61 54
9537420 1998
8
Mutations in the caveolin-3 gene: When are they pathogenic? 61 6
11251997 2001
9
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017. 6
30055862 2018
10
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases. 6
27854218 2016
11
Rippling muscle disease: variable phenotype in a family with five afflicted members. 6
19697367 2010
12
Phenotypic variability in a Spanish family with a Caveolin-3 mutation. 6
18930476 2009
13
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. 6
16247063 2005
14
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 6
15668980 2005
15
Consequences of a novel caveolin-3 mutation in a large German family. 6
12557291 2003
16
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy. 6
11805270 2002
17
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation. 6
11756609 2001
18
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy. 6
11001938 2000
19
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. 6
10464299 1999
20
Phenotypic variability in rippling muscle disease. 6
10227634 1999
21
Caveolin-3 in muscular dystrophy. 6
9536092 1998
22
Rippling muscle disease. 6
2705900 1989
23
A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen. 6
1146501 1975
24
Caveolin-3 regulates myostatin signaling. Mini-review. 61 54
19108573 2008
25
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 61 54
17994539 2008
26
[Therapeutic strategies for muscular dystrophy by myostatin inhibition]. 54 61
17432227 2006
27
Muscular atrophy of caveolin-3-deficient mice is rescued by myostatin inhibition. 54 61
17039257 2006
28
Altered caveolin-3 expression disrupts PI(3) kinase signaling leading to death of cultured muscle cells. 54 61
16814768 2006
29
Dysferlin interacts with affixin (beta-parvin) at the sarcolemma. 61 54
15835269 2005
30
Two novel CAV3 gene mutations in Japanese families. 54 61
15564037 2004
31
[Limb girdle muscular dystrophies]. 54 61
15316618 2004
32
Phenotypic variability associated with Arg26Gln mutation in caveolin3. 54 61
15318349 2004
33
Variable reduction of caveolin-3 in patients with LGMD2B/MM. 61 54
14673575 2003
34
Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum. 54 61
14647208 2003
35
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle. 61 54
11532985 2001
36
Caveolin-3 deficiency associated with the dystrophy P104L mutation impairs skeletal muscle mitochondrial form and function. 61
32090499 2020
37
The caveolin-3 P104L mutation in LGMD-1C patients inhibits non-insulin-stimulated glucose metabolism and growth but promotes myocyte proliferation. 61
30958599 2019
38
Characteristic findings of skeletal muscle MRI in caveolinopathies. 61
30174172 2018
39
CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies. 61
27312022 2016
40
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). 61
24647604 2014
41
Genetic basis of limb-girdle muscular dystrophies: the 2014 update. 61
24843229 2014
42
Gender difference in limb-girdle muscular dystrophy: a muscle fiber morphometric study in 101 patients. 61
24618072 2014
43
Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice. 61
21610159 2011
44
Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene. 61
21660982 2011
45
Dysferlin, annexin A1, and mitsugumin 53 are upregulated in muscular dystrophy and localize to longitudinal tubules of the T-system with stretch. 61
21412170 2011
46
Atelocollagen-mediated systemic administration of myostatin-targeting siRNA improves muscular atrophy in caveolin-3-deficient mice. 61
21261610 2011
47
Muscular dystrophy begins early in embryonic development deriving from stem cell loss and disrupted skeletal muscle formation. 61
19535499 2009
48
Expression of the muscular dystrophy-associated caveolin-3(P104L) mutant in adult mouse skeletal muscle specifically alters the Ca(2+) channel function of the dihydropyridine receptor. 54
18509671 2008
49
Comparative proteomic analysis of myotube caveolae after milli-calpain deregulation. 61
17849407 2007
50
Caveolinopathies – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301559 2007

Variations for Limb-Girdle Muscular Dystrophy Type 1c

ClinVar genetic disease variations for Limb-Girdle Muscular Dystrophy Type 1c:

6 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAV3 NM_033337.2(CAV3):c.314C>T (p.Pro105Leu) SNV Pathogenic 8276 rs116840805 GRCh37: 3:8787411-8787411
GRCh38: 3:8745725-8745725
2 CAV3 NM_033337.2(CAV3):c.189_197delCACCTTCAC (p.Thr64_Thr66del) Deletion Pathogenic 8277 rs199476331 GRCh37: 3:8787286-8787294
GRCh38: 3:8745597-8745605
3 CAV3 , SSUH2 NM_033337.2(CAV3):c.84C>A (p.Asp28Glu) SNV Pathogenic 8280 rs116840782 GRCh37: 3:8775646-8775646
GRCh38: 3:8733960-8733960
4 CAV3 NM_033337.2(CAV3):c.137C>T (p.Ala46Val) SNV Pathogenic 8282 rs116840773 GRCh37: 3:8787234-8787234
GRCh38: 3:8745548-8745548
5 CAV3 NM_033337.2(CAV3):c.260T>C (p.Leu87Pro) SNV Pathogenic 8284 rs28936685 GRCh37: 3:8787357-8787357
GRCh38: 3:8745671-8745671
6 CAV3 NM_001234.5(CAV3):c.290_292del (p.Phe97del) Deletion Pathogenic 8286 rs199476335 GRCh37: 3:8787385-8787387
GRCh38: 3:8745699-8745701
7 CAV3 NM_033337.2(CAV3):c.139G>A (p.Glu47Lys) SNV Pathogenic 8290 rs116840793 GRCh37: 3:8787236-8787236
GRCh38: 3:8745550-8745550
8 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Pathogenic 8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
9 CAV3 NM_033337.2(CAV3):c.136G>A (p.Ala46Thr) SNV Pathogenic 8281 rs116840789 GRCh37: 3:8787233-8787233
GRCh38: 3:8745547-8745547
10 CAV3 , SSUH2 NM_033337.2(CAV3):c.80G>A (p.Arg27Gln) SNV Pathogenic 8283 rs116840778 GRCh37: 3:8775642-8775642
GRCh38: 3:8733956-8733956
11 CAV3 NM_033337.3(CAV3):c.299T>A (p.Ile100Asn) SNV Likely pathogenic 973213 GRCh37: 3:8787396-8787396
GRCh38: 3:8745710-8745710
12 CAV3 NM_033337.2(CAV3):c.277G>A (p.Ala93Thr) SNV Likely pathogenic 8285 rs28936686 GRCh37: 3:8787374-8787374
GRCh38: 3:8745688-8745688
13 CAV3 , SSUH2 NM_001234.5(CAV3):c.100G>A (p.Glu34Lys) SNV Likely pathogenic 31730 rs199476325 GRCh37: 3:8775662-8775662
GRCh38: 3:8733976-8733976
14 CAV3 NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) SNV Uncertain significance 8278 rs72546667 GRCh37: 3:8787263-8787263
GRCh38: 3:8745577-8745577
15 CAV3 NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) SNV Uncertain significance 8279 rs116840776 GRCh37: 3:8787313-8787313
GRCh38: 3:8745627-8745627
16 CAV3 , SSUH2 NM_033337.3(CAV3):c.65T>C (p.Ile22Thr) SNV Uncertain significance 931376 GRCh37: 3:8775627-8775627
GRCh38: 3:8733941-8733941
17 CAV3 NM_001234.5(CAV3):c.400G>A (p.Ala134Thr) SNV Uncertain significance 288112 rs773309037 GRCh37: 3:8787497-8787497
GRCh38: 3:8745811-8745811
18 CAV3 , SSUH2 NM_033337.3(CAV3):c.27C>T (p.Leu9=) SNV Benign 31716 rs1974763 GRCh37: 3:8775589-8775589
GRCh38: 3:8733903-8733903

Expression for Limb-Girdle Muscular Dystrophy Type 1c

Search GEO for disease gene expression data for Limb-Girdle Muscular Dystrophy Type 1c.

Pathways for Limb-Girdle Muscular Dystrophy Type 1c

Pathways related to Limb-Girdle Muscular Dystrophy Type 1c according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 DYSF CAV3

GO Terms for Limb-Girdle Muscular Dystrophy Type 1c

Cellular components related to Limb-Girdle Muscular Dystrophy Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 T-tubule GO:0030315 8.96 DYSF CAV3
2 sarcolemma GO:0042383 8.8 FKRP DYSF CAV3

Biological processes related to Limb-Girdle Muscular Dystrophy Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.37 DYSF CAV3
2 muscle organ development GO:0007517 9.32 MSTN CAV3
3 plasma membrane organization GO:0007009 9.26 DYSF CAV3
4 muscle cell cellular homeostasis GO:0046716 9.16 MSTN CAV3
5 plasma membrane repair GO:0001778 8.96 DYSF CAV3
6 T-tubule organization GO:0033292 8.62 DYSF CAV3

Sources for Limb-Girdle Muscular Dystrophy Type 1c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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