LGMD1C
MCID: ATS247
MIFTS: 32

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c (LGMD1C)

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

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

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

Name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c 12 53 59 15
Lgmd1c 12 53 59 75 55
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 12 53 59
Muscular Dystrophy, Limb-Girdle, Type Ic 53 13
Limb-Girdle Muscular Dystrophy, Type 1c 29 6
Limb-Girdle Muscular Dystrophy 1c 75 37
Dystrophy, Muscular, Limb-Girdle, Type 1c 40
Muscular Dystrophy, Limb-Girdle, Type 1c 73
Muscular Dystrophy Limb-Girdle Type Ic 12
Limb-Girdle Muscular Dystrophy Type 1c 53

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant limb-girdle muscular dystrophy type 1c
Inheritance: Autosomal dominant; Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110302
ICD10 33 G71.0
Orphanet 59 ORPHA265
ICD10 via Orphanet 34 G71.0
UMLS via Orphanet 74 C1832567
MedGen 42 C1832567
MeSH 44 D049288
KEGG 37 H00567
UMLS 73 C1832567

Summaries for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Disease Ontology : 12 An autosomal dominant limb-girdle muscular dystrophy that has material basis in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25.

MalaCards based summary : Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c, also known as lgmd1c, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including myalgia and muscle cramp. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c is CAV3 (Caveolin 3), and among its related pathways/superpathways are Endocytosis and Focal adhesion. Related phenotype is muscle.

Related Diseases for Autosomal Dominant 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 21 Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 35)
# Related Disease Score Top Affiliating Genes
1 limb-girdle muscular dystrophy 29.4 CAV3 DNAJB6 DYSF FKRP HNRNPDL TNPO3
2 muscular dystrophy 29.1 CAV3 DNAJB6 DYSF FKRP HNRNPDL MSTN
3 rippling muscle disease 2 11.2
4 isolated hyperckemia 10.1 CAV3 FKRP
5 autosomal recessive limb-girdle muscular dystrophy type 2d 10.1 DYSF FKRP
6 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 DYSF FKRP
7 autosomal recessive limb-girdle muscular dystrophy type 2b 10.1 CAV3 DYSF
8 muscular dystrophy, limb-girdle, autosomal recessive 8 10.1 DYSF FKRP
9 autosomal dominant limb-girdle muscular dystrophy type 1a 10.0 CAV3 FKRP
10 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 DYSF FKRP
11 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 DYSF FKRP
12 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0 DYSF FKRP
13 muscular dystrophy-dystroglycanopathy , type b, 5 10.0 CAV3 FKRP
14 autosomal recessive limb-girdle muscular dystrophy 10.0 CAV3 DYSF FKRP
15 miyoshi muscular dystrophy 10.0 CAV3 DYSF
16 muscular dystrophy, limb-girdle, autosomal recessive 2 10.0 CAV3 DYSF FKRP
17 autosomal recessive limb-girdle muscular dystrophy type 2a 9.9 DNAJB6 DYSF FKRP
18 autosomal recessive limb-girdle muscular dystrophy type 2w 9.9 HNRNPDL TNPO3
19 autosomal dominant limb-girdle muscular dystrophy 9.9 CAV3 DNAJB6 TNPO3
20 muscular dystrophy-dystroglycanopathy , type c, 9 9.9 HNRNPDL TNPO3
21 muscular dystrophy-dystroglycanopathy , type c, 14 9.9 HNRNPDL TNPO3
22 muscular dystrophy-dystroglycanopathy , type c, 1 9.9 HNRNPDL TNPO3
23 muscular dystrophy-dystroglycanopathy , type c, 7 9.9 HNRNPDL TNPO3
24 autosomal recessive limb-girdle muscular dystrophy type 2r 9.9 HNRNPDL TNPO3
25 muscular dystrophy-dystroglycanopathy , type c, 3 9.8 HNRNPDL TNPO3
26 muscular dystrophy-dystroglycanopathy , type c, 2 9.8 HNRNPDL TNPO3
27 myositis 9.8 DYSF MSTN
28 muscle tissue disease 9.8 CAV3 DYSF FKRP MSTN
29 muscular dystrophy, limb-girdle, type 1h 9.7 DNAJB6 HNRNPDL TNPO3
30 autosomal recessive limb-girdle muscular dystrophy type 2q 9.7 DNAJB6 HNRNPDL TNPO3
31 autosomal dominant limb-girdle muscular dystrophy type 1g 9.7 DNAJB6 HNRNPDL TNPO3
32 muscular disease 9.6 CAV3 DNAJB6 DYSF FKRP MSTN
33 autosomal dominant limb-girdle muscular dystrophy type 1f 9.6 CAV3 DNAJB6 HNRNPDL TNPO3
34 autosomal dominant limb-girdle muscular dystrophy type 1b 9.6 CAV3 DNAJB6 HNRNPDL TNPO3
35 muscular dystrophy, limb-girdle, autosomal dominant 1 9.6 CAV3 DNAJB6 HNRNPDL TNPO3

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



Diseases related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

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

UMLS symptoms related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c:


myalgia, muscle cramp

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

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

Genetic Tests for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Genetic tests related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 1c 29

Anatomical Context for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Publications for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

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

# Title Authors Year
1
A caveolin-3 mutant that causes limb girdle muscular dystrophy type 1C disrupts Src localization and activity and induces apoptosis in skeletal myotubes. ( 14600260 )
2003

Variations for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

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

6 (show all 28)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAV3 NM_033337.2(CAV3): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs116840805 GRCh37 Chromosome 3, 8787411: 8787411
2 CAV3 NM_033337.2(CAV3): c.314C> T (p.Pro105Leu) single nucleotide variant Pathogenic rs116840805 GRCh38 Chromosome 3, 8745725: 8745725
3 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh37 Chromosome 3, 8787263: 8787263
4 CAV3 NM_033337.2(CAV3): c.166G> A (p.Gly56Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs72546667 GRCh38 Chromosome 3, 8745577: 8745577
5 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh37 Chromosome 3, 8787313: 8787313
6 CAV3 NM_033337.2(CAV3): c.216C> G (p.Cys72Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs116840776 GRCh38 Chromosome 3, 8745627: 8745627
7 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh37 Chromosome 3, 8787233: 8787233
8 CAV3 NM_033337.2(CAV3): c.136G> A (p.Ala46Thr) single nucleotide variant Pathogenic rs116840789 GRCh38 Chromosome 3, 8745547: 8745547
9 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh37 Chromosome 3, 8787234: 8787234
10 CAV3 NM_033337.2(CAV3): c.137C> T (p.Ala46Val) single nucleotide variant Likely pathogenic rs116840773 GRCh38 Chromosome 3, 8745548: 8745548
11 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh37 Chromosome 3, 8775642: 8775642
12 CAV3; SSUH2 NM_033337.2(CAV3): c.80G> A (p.Arg27Gln) single nucleotide variant Pathogenic rs116840778 GRCh38 Chromosome 3, 8733956: 8733956
13 CAV3 NM_033337.2(CAV3): c.99C> T (p.Asn33=) single nucleotide variant Benign/Likely benign rs1008642 GRCh37 Chromosome 3, 8775661: 8775661
14 CAV3 NM_033337.2(CAV3): c.99C> T (p.Asn33=) single nucleotide variant Benign/Likely benign rs1008642 GRCh38 Chromosome 3, 8733975: 8733975
15 CAV3 NM_033337.2(CAV3): c.171G> A (p.Val57=) single nucleotide variant Benign/Likely benign rs61147808 GRCh37 Chromosome 3, 8787268: 8787268
16 CAV3 NM_033337.2(CAV3): c.171G> A (p.Val57=) single nucleotide variant Benign/Likely benign rs61147808 GRCh38 Chromosome 3, 8745582: 8745582
17 CAV3 NM_033337.2(CAV3): c.27C> T (p.Leu9=) single nucleotide variant Benign/Likely benign rs1974763 GRCh37 Chromosome 3, 8775589: 8775589
18 CAV3 NM_033337.2(CAV3): c.27C> T (p.Leu9=) single nucleotide variant Benign/Likely benign rs1974763 GRCh38 Chromosome 3, 8733903: 8733903
19 CAV3 NM_033337.2(CAV3): c.123T> C (p.Phe41=) single nucleotide variant Benign/Likely benign rs13087941 GRCh37 Chromosome 3, 8787220: 8787220
20 CAV3 NM_033337.2(CAV3): c.123T> C (p.Phe41=) single nucleotide variant Benign/Likely benign rs13087941 GRCh38 Chromosome 3, 8745534: 8745534
21 CAV3 NM_033337.2(CAV3): c.100G> A (p.Glu34Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199476325 GRCh37 Chromosome 3, 8775662: 8775662
22 CAV3 NM_033337.2(CAV3): c.100G> A (p.Glu34Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs199476325 GRCh38 Chromosome 3, 8733976: 8733976
23 CAV3 NM_033337.2(CAV3): c.301T> C (p.Trp101Arg) single nucleotide variant Pathogenic rs199476337 GRCh37 Chromosome 3, 8787398: 8787398
24 CAV3 NM_033337.2(CAV3): c.301T> C (p.Trp101Arg) single nucleotide variant Pathogenic rs199476337 GRCh38 Chromosome 3, 8745712: 8745712
25 CAV3 NM_033337.2(CAV3): c.10_17delGAAGAGCA (p.Glu4Hisfs) deletion Pathogenic rs886044587 GRCh37 Chromosome 3, 8775572: 8775579
26 CAV3 NM_033337.2(CAV3): c.10_17delGAAGAGCA (p.Glu4Hisfs) deletion Pathogenic rs886044587 GRCh38 Chromosome 3, 8733886: 8733893
27 CAV3 NM_033337.2(CAV3): c.366delAinsAA (p.Leu123Thrfs) indel Likely pathogenic GRCh38 Chromosome 3, 8745777: 8745777
28 CAV3 NM_033337.2(CAV3): c.366delAinsAA (p.Leu123Thrfs) indel Likely pathogenic GRCh37 Chromosome 3, 8787463: 8787463

Expression for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

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

Pathways for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Pathways related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c according to KEGG:

37
# Name Kegg Source Accession
1 Endocytosis hsa04144
2 Focal adhesion hsa04510

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

# Super pathways Score Top Affiliating Genes
1 10.18 CAV3 DYSF

GO Terms for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.26 CAV3 DNAJB6
2 T-tubule GO:0030315 9.16 CAV3 DYSF
3 dystrophin-associated glycoprotein complex GO:0016010 8.96 CAV3 FKRP
4 sarcolemma GO:0042383 8.8 CAV3 DYSF FKRP

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.4 CAV3 DYSF
2 muscle organ development GO:0007517 9.37 CAV3 MSTN
3 skeletal muscle tissue regeneration GO:0043403 9.32 DYSF MSTN
4 muscle cell cellular homeostasis GO:0046716 9.26 CAV3 MSTN
5 regulation of calcium ion import GO:0090279 9.16 CAV3 DYSF
6 plasma membrane repair GO:0001778 8.96 CAV3 DYSF
7 T-tubule organization GO:0033292 8.62 CAV3 DYSF

Molecular functions related to Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 8.62 CAV3 DYSF

Sources for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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