MCID: ATS247
MIFTS: 27

Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Categories: Rare diseases, Muscle diseases, Genetic diseases, Neuronal diseases, Metabolic 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 15
Limb-Girdle Muscular Dystrophy Due to Caveolin-3 Deficiency 12 53
Lgmd1c 12 53
Muscular Dystrophy, Limb-Girdle, Type 1c 73
Muscular Dystrophy, Limb-Girdle, Type Ic 53
Muscular Dystrophy Limb-Girdle Type Ic 12
Limb-Girdle Muscular Dystrophy Type 1c 53

Classifications:



External Ids:

Disease Ontology 12 DOID:0110302
ICD10 33 G71.0
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 limb-girdle muscular dystrophy due to caveolin-3 deficiency, is related to muscular dystrophy, limb-girdle, type 1c and autosomal recessive limb-girdle muscular dystrophy type 2b, and has symptoms including muscle cramp and myalgia. An important gene associated with Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c is CAV3 (Caveolin 3), and among its related pathways/superpathways is Smooth Muscle Contraction.

Related Diseases for Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
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 41)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 1c 32.0 CAV3 DYSF FKRP
2 autosomal recessive limb-girdle muscular dystrophy type 2b 10.3 CAV3 DYSF
3 isolated hyperckemia 10.3 CAV3 FKRP
4 rippling muscle disease 2 10.2 CAV3 DYSF
5 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 HNRNPDL TNPO3
6 muscular dystrophy, limb-girdle, type 2w 10.2 HNRNPDL TNPO3
7 muscular dystrophy-dystroglycanopathy , type c, 4 10.2 FKRP HNRNPDL
8 muscular dystrophy, limb-girdle, type 2r 10.2 HNRNPDL TNPO3
9 muscular dystrophy-dystroglycanopathy , type c, 14 10.2 HNRNPDL TNPO3
10 muscular dystrophy-dystroglycanopathy , type c, 7 10.2 HNRNPDL TNPO3
11 muscular dystrophy, limb-girdle, type 2l 10.2 DYSF FKRP
12 muscular dystrophy-dystroglycanopathy , type c, 3 10.1 HNRNPDL TNPO3
13 muscular dystrophy-dystroglycanopathy , type c, 1 10.1 HNRNPDL TNPO3
14 muscular dystrophy, limb-girdle, type 2h 10.1 DYSF FKRP
15 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 HNRNPDL TNPO3
16 muscular dystrophy, limb-girdle, type 2d 10.1 DYSF FKRP
17 muscular dystrophy, limb-girdle, type 2f 10.0 DYSF FKRP
18 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 DYSF FKRP
19 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 CAV3 FKRP
20 muscular dystrophy, limb-girdle, type 2j 9.7 FKRP MYOT
21 autosomal recessive limb-girdle muscular dystrophy 9.7 DYSF FKRP
22 muscular dystrophy, limb-girdle, type 2q 9.5 DNAJB6 HNRNPDL TNPO3
23 myopathy, myofibrillar, 3 9.5 DNAJB6 MYOT
24 distal muscular dystrophy 9.5 CAV3 DYSF MYOT
25 myopathy, spheroid body 9.4 DNAJB6 MYOT
26 muscular dystrophy, limb-girdle, type 1a 9.4 CAV3 FKRP MYOT
27 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 DYSF FKRP MYOT
28 muscular dystrophy, limb-girdle, type 2g 9.3 DYSF FKRP MYOT
29 myofibrillar myopathy 9.3 DNAJB6 MYOT
30 muscular dystrophy, limb-girdle, type 1b 9.1 CAV3 DNAJB6 HNRNPDL TNPO3
31 atrial standstill 1 9.0 FKRP MYOT
32 muscular dystrophy, limb-girdle, type 2b 8.9 CAV3 DYSF FKRP MYOT
33 muscle tissue disease 8.9 CAV3 DYSF FKRP MYOT
34 autosomal dominant limb-girdle muscular dystrophy 8.6 CAV3 DNAJB6 MYOT TNPO3
35 muscular dystrophy, limb-girdle, type 1h 8.6 DNAJB6 HNRNPDL MYOT TNPO3
36 autosomal dominant limb-girdle muscular dystrophy type 1g 8.6 DNAJB6 HNRNPDL MYOT TNPO3
37 muscular dystrophy, limb-girdle, type 1f 8.1 CAV3 DNAJB6 HNRNPDL MYOT TNPO3
38 myopathy 8.1 CAV3 DNAJB6 DYSF FKRP MYOT
39 muscular dystrophy, limb-girdle, type 1e 7.5 CAV3 DNAJB6 FKRP HNRNPDL MYOT TNPO3
40 limb-girdle muscular dystrophy 7.0 CAV3 DNAJB6 DYSF FKRP HNRNPDL MYOT
41 muscular dystrophy 7.0 CAV3 DNAJB6 DYSF FKRP HNRNPDL MYOT

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:


muscle cramp, myalgia

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

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

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 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 T-tubule GO:0030315 9.26 CAV3 DYSF
2 dystrophin-associated glycoprotein complex GO:0016010 9.16 CAV3 FKRP
3 Z disc GO:0030018 9.13 CAV3 DNAJB6 MYOT
4 sarcolemma GO:0042383 8.92 CAV3 DYSF FKRP MYOT

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 9.13 CAV3 DYSF MYOT
2 plasma membrane repair GO:0001778 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
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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74 UMLS via Orphanet
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