MCID: ATS298
MIFTS: 29

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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

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

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b 12 15
Limb-Girdle Muscular Dystrophy Due to Dysferlin Deficiency 12
Muscular Dystrophy, Limb-Girdle, Type 2b 73
Limb-Girdle Muscular Dystrophy Type 3 12
Lgmd2b 12
Lgmd3 12

Classifications:



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Disease Ontology 12 DOID:0110276
ICD10 33 G71.0
UMLS 73 C1850889

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

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b, also known as limb-girdle muscular dystrophy due to dysferlin deficiency, is related to muscular dystrophy, limb-girdle, type 2b and anterior compartment syndrome. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b is DYSF (Dysferlin), and among its related pathways/superpathways are Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Smooth Muscle Contraction. Affiliated tissues include skeletal muscle, and related phenotypes are homeostasis/metabolism and muscle

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

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

(show all 28)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2b 29.7 CAPN3 CAV3 DYSF MYOF SGCA
2 anterior compartment syndrome 10.5 ANO5 DYSF
3 muscular dystrophy, limb-girdle, type 2l 10.5 ANO5 DYSF
4 muscular dystrophy, limb-girdle, type 2h 10.4 CAPN3 DYSF
5 muscular dystrophy, limb-girdle, type 2g 10.3 CAPN3 DYSF
6 muscular dystrophy-dystroglycanopathy , type c, 5 10.2 CAPN3 DYSF
7 autosomal recessive limb-girdle muscular dystrophy type 2e 10.2 CAPN3 SGCG
8 muscular dystrophy, limb-girdle, type 1c 10.2 CAV3 DYSF
9 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 CAV3 DYSF
10 creatine phosphokinase, elevated serum 10.0 ANO5 CAV3
11 rippling muscle disease 2 10.0 CAV3 DYSF
12 bethlem myopathy 1 10.0 CAPN3 DYSF
13 dysferlinopathy 10.0 CAPN3 DYSF MYOF
14 muscular dystrophy, limb-girdle, type 1a 9.9 CAPN3 CAV3
15 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 CAPN3 DYSF SGCG
16 myositis 9.8 CAPN3 DYSF
17 isolated hyperckemia 9.7 ANO5 CAPN3 CAV3
18 muscular dystrophy, becker type 9.6 DYSF SGCA
19 distal muscular dystrophy 9.4 ANO5 CAPN3 CAV3 DYSF
20 autosomal recessive limb-girdle muscular dystrophy type 2f 9.0 CAPN3 DYSF SGCA SGCG
21 muscular dystrophy, limb-girdle, type 2c 8.9 CAPN3 DYSF SGCA SGCG
22 muscular dystrophy, limb-girdle, type 2d 8.9 CAPN3 DYSF SGCA SGCG
23 muscular dystrophy, limb-girdle, type 2f 8.9 CAPN3 DYSF SGCA SGCG
24 autosomal recessive limb-girdle muscular dystrophy 8.6 ANO5 CAPN3 DYSF SGCA SGCG
25 muscle tissue disease 7.8 ANO5 CAPN3 CAV3 DYSF SGCA SGCG
26 limb-girdle muscular dystrophy 7.8 ANO5 CAPN3 CAV3 DYSF SGCA SGCG
27 myopathy 7.7 ANO5 CAPN3 CAV3 DYSF SGCA SGCG
28 muscular dystrophy 7.3 ANO5 CAPN3 CAV3 DYSF MYOF SGCA

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



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

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

MGI Mouse Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.5 AHNAK ANO5 CAPN3 CAV3 DYSF SGCA
2 muscle MP:0005369 9.17 CAV3 DYSF MYOF SGCA SGCG ANO5

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

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

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

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

MalaCards organs/tissues related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b:

41
Skeletal Muscle

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

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

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.54 CAPN3 SGCA SGCG
2 10.18 CAV3 DYSF

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

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

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.97 AHNAK ANO5 CAPN3 CAV3 DYSF MYOF
2 membrane raft GO:0045121 9.61 AHNAK CAV3 SGCA
3 vesicle GO:0031982 9.58 AHNAK ANO5 CAV3
4 caveola GO:0005901 9.46 CAV3 MYOF
5 dystrophin-associated glycoprotein complex GO:0016010 9.32 CAV3 SGCA
6 sarcoglycan complex GO:0016012 9.26 SGCA SGCG
7 T-tubule GO:0030315 9.26 AHNAK CAPN3 CAV3 DYSF
8 dystroglycan complex GO:0016011 9.16 SGCA SGCG
9 sarcolemma GO:0042383 9.02 AHNAK CAV3 DYSF SGCA SGCG

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

# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.46 CAV3 DYSF MYOF SGCA
2 regulation of catalytic activity GO:0050790 9.37 AUP1 CAPN3
3 myoblast fusion GO:0007520 9.32 CAV3 MYOF
4 muscle cell cellular homeostasis GO:0046716 9.26 CAPN3 CAV3
5 muscle organ development GO:0007517 9.26 CAPN3 CAV3 SGCA SGCG
6 plasma membrane repair GO:0001778 8.8 CAV3 DYSF MYOF

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

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex scaffold activity GO:0032947 8.62 CAPN3 CAV3

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

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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36 IUPHAR
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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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