MCID: ATS333
MIFTS: 19

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x 12 15
Muscular Dystrophy, Limb-Girdle, Type 2x 12
Lgmd2x 12

Classifications:



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Disease Ontology 12 DOID:0110290

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the BVES gene on chromosome 6q21.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x, also known as muscular dystrophy, limb-girdle, type 2x, is related to muscular dystrophy, limb-girdle, autosomal recessive 25 and dysferlinopathy. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x is BVES (Blood Vessel Epicardial Substance), and among its related pathways/superpathways is Smooth Muscle Contraction.

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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
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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 55)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 25 11.8
2 dysferlinopathy 10.2 TOR1AIP1 DYSF
3 isolated elevated serum creatine phosphokinase levels 10.2 CAV3 ANO5
4 creatine phosphokinase, elevated serum 10.2 CAV3 ANO5
5 miyoshi muscular dystrophy 3 10.1 DYSF ANO5
6 rippling muscle disease 2 10.1 DYSF CAV3
7 muscular dystrophy-dystroglycanopathy , type c, 3 10.0 GMPPB ANO5
8 cardiomyopathy, dilated, 3b 10.0 DYSF CAV3
9 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 DYSF ANO5
10 muscular dystrophy-dystroglycanopathy , type c, 7 10.0 LIMS2 GMPPB ANO5
11 muscular dystrophy-dystroglycanopathy , type c, 14 10.0 LIMS2 GMPPB ANO5
12 myopathy, myofibrillar, 8 10.0 TOR1AIP1 PYROXD1
13 muscular dystrophy-dystroglycanopathy , type c, 2 10.0 LIMS2 GMPPB ANO5
14 emery-dreifuss muscular dystrophy 2, autosomal dominant 9.9 TOR1AIP1 DYSF CAV3
15 muscular dystrophy, congenital merosin-deficient, 1a 9.9 GMPPB DYSF
16 muscular dystrophy-dystroglycanopathy , type b, 5 9.8 ZC4H2 GMPPB
17 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8 MYOT DYSF
18 brown-vialetto-van laere syndrome 9.8 TOR1AIP1 SLC52A2
19 muscular dystrophy-dystroglycanopathy , type a, 4 9.7 ZC4H2 GMPPB DYSF
20 autosomal recessive limb-girdle muscular dystrophy type 2h 9.7 MYOT DYSF ANO5
21 autosomal recessive limb-girdle muscular dystrophy type 2d 9.7 MYOT DYSF ANO5
22 muscular dystrophy, limb-girdle, type 1h 9.7 MYOT LIMS2 CAV3
23 tibial muscular dystrophy 9.7 MYOT DYSF ANO5
24 autosomal dominant limb-girdle muscular dystrophy 9.6 MYOT CAV3 ANO5
25 myopathy, tubular aggregate, 1 9.6 GMPPB DYSF
26 autosomal recessive limb-girdle muscular dystrophy type 2j 9.6 MYOT DYSF CAV3
27 autosomal recessive limb-girdle muscular dystrophy type 2f 9.6 MYOT DYSF CAV3
28 muscular dystrophy, congenital, lmna-related 9.6 GMPPB DYSF CAV3 ANO5
29 myopathy, myofibrillar, 3 9.6 MYOT DYSF CAV3
30 muscular dystrophy-dystroglycanopathy , type c, 1 9.6 MYOT GMPPB ANO5
31 muscular dystrophy, becker type 9.5 MYOT DYSF CAV3
32 muscular dystrophy, limb-girdle, autosomal dominant 3 9.5 MYOT LIMS2 CAV3 ANO5
33 limb-girdle muscular dystrophy 9.4 MYOT DYSF CAV3 ANO5
34 autosomal recessive limb-girdle muscular dystrophy type 2g 9.4 MYOT DYSF CAV3 ANO5
35 autosomal recessive limb-girdle muscular dystrophy type 2l 9.4 MYOT DYSF CAV3 ANO5
36 autosomal recessive limb-girdle muscular dystrophy type 2c 9.4 MYOT DYSF CAV3 ANO5
37 muscular dystrophy, limb-girdle, autosomal dominant 2 9.4 MYOT DYSF CAV3 ANO5
38 autosomal recessive limb-girdle muscular dystrophy type 2b 9.4 MYOT DYSF CAV3 ANO5
39 autosomal recessive limb-girdle muscular dystrophy type 2a 9.4 MYOT DYSF CAV3 ANO5
40 muscular dystrophy, limb-girdle, autosomal dominant 1 9.4 MYOT DYSF CAV3 ANO5
41 muscular dystrophy-dystroglycanopathy , type c, 4 9.4 ZC4H2 MYOT DYSF ANO5
42 miyoshi muscular dystrophy 9.4 MYOT DYSF CAV3 ANO5
43 muscle tissue disease 9.4 MYOT DYSF CAV3 ANO5
44 muscular dystrophy-dystroglycanopathy , type c, 9 9.1 MYOT LIMS2 GMPPB DYSF ANO5
45 neuromuscular disease 9.1 MYOT GMPPB DYSF CAV3
46 bethlem myopathy 1 9.0 MYOT GMPPB DYSF CAV3 ANO5
47 myopathy 8.9 PYROXD1 MYOT DYSF CAV3 ANO5
48 muscular disease 8.9 MYOT GMPPB DYSF CAV3 ANO5
49 myofibrillar myopathy 8.9 PYROXD1 MYOT DYSF CAV3 ANO5
50 walker-warburg syndrome 8.9 ZC4H2 MYOT GMPPB DYSF CAV3

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Search Clinical Trials , NIH Clinical Center for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Search GEO for disease gene expression data for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x.

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Pathways related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.18 DYSF CAV3

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.93 ZC4H2 TOR1AIP1 SLC52A2 POPDC3 POPDC2 MYOT
2 plasma membrane GO:0005886 9.65 ZC4H2 SLC52A2 POPDC2 MYOT LIMS2 KCNK2
3 T-tubule GO:0030315 9.26 DYSF CAV3
4 sarcolemma GO:0042383 9.1 POPDC3 POPDC2 MYOT DYSF CAV3 BVES

Biological processes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.61 MYOT DYSF CAV3
2 skeletal muscle tissue development GO:0007519 9.43 POPDC3 POPDC2 BVES
3 plasma membrane repair GO:0001778 9.4 DYSF CAV3
4 regulation of calcium ion import GO:0090279 9.37 DYSF CAV3
5 regulation of heart rate GO:0002027 9.33 POPDC2 CAV3 BVES
6 T-tubule organization GO:0033292 9.32 DYSF CAV3
7 striated muscle cell differentiation GO:0051146 9.13 POPDC3 POPDC2 BVES
8 regulation of membrane potential GO:0042391 9.02 POPDC3 POPDC2 KCNK2 CAV3 BVES

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 8.96 DYSF CAV3
2 cAMP binding GO:0030552 8.8 POPDC3 POPDC2 BVES

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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43 MeSH
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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