MCID: ATS298
MIFTS: 33

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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 74
Limb-Girdle Muscular Dystrophy Type 3 12
Lgmd2b 12
Lgmd3 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0110276
ICD10 34 G71.0
UMLS 74 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 dysferlinopathy and muscular dystrophy, limb-girdle, autosomal recessive 2. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b is DYSF (Dysferlin), and among its related pathways/superpathways are Dilated cardiomyopathy (DCM) and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Affiliated tissues include skeletal muscle, brain and eye, and related phenotypes are cardiovascular system 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, 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

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 32.4 CAPN3 DYSF MYOF
2 muscular dystrophy, limb-girdle, autosomal recessive 2 30.6 CAPN3 CAV3 DYSF FKRP MYOT SGCA
3 myopathy 30.0 CAPN3 CAV3 DYSF MYOT
4 autosomal recessive limb-girdle muscular dystrophy 28.1 ANO5 CAPN3 CAV3 DYSF FKRP SGCA
5 limb-girdle muscular dystrophy 28.0 ANO5 CAPN3 CAV3 DYSF FKRP MYOT
6 muscular dystrophy 27.6 ANO5 CAPN3 CAV3 DYSF FKRP MYOF
7 muscular dystrophy, limb-girdle, autosomal dominant 3 11.7
8 miyoshi muscular dystrophy 1 10.2
9 autosomal dominant limb-girdle muscular dystrophy 10.2 CAV3 MYOT
10 miyoshi muscular dystrophy 3 10.1 ANO5 DYSF
11 bethlem myopathy 1 10.1 CAPN3 DYSF
12 muscular dystrophy, limb-girdle, autosomal recessive 1 10.0
13 muscular atrophy 10.0
14 creatine phosphokinase, elevated serum 10.0 ANO5 CAV3
15 muscular dystrophy, becker type 10.0 DYSF SGCA
16 paresthesia 9.9 CAPN3 FKRP
17 polyglucosan body myopathy 1 with or without immunodeficiency 9.9 CAPN3 FKRP
18 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 CAV3 MYOT SGCB
19 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8 CAPN3 DYSF FKRP
20 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 CAPN3 DYSF FKRP
21 muscular dystrophy-dystroglycanopathy , type c, 4 9.8 ANO5 FKRP
22 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 CAV3 FKRP
23 muscular dystrophy, limb-girdle, autosomal recessive 7 9.6 CAPN3 DYSF FKRP MYOT
24 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF MYOT SGCB SGCG
25 autosomal recessive limb-girdle muscular dystrophy type 2j 9.5 CAPN3 FKRP MYOT SGCB
26 autosomal recessive limb-girdle muscular dystrophy type 2f 9.4 CAPN3 DYSF SGCA SGCB SGCG
27 muscle eye brain disease 9.4 FKRP SGCA
28 autosomal recessive limb-girdle muscular dystrophy type 2c 9.4 CAPN3 DYSF SGCA SGCB SGCG
29 isolated hyperckemia 9.4 ANO5 CAPN3 CAV3 FKRP
30 autosomal recessive limb-girdle muscular dystrophy type 2l 9.4 ANO5 DYSF FKRP SGCB
31 miyoshi muscular dystrophy 9.4 ANO5 CAPN3 CAV3 DYSF MYOF MYOT
32 autosomal recessive limb-girdle muscular dystrophy type 2h 9.3 CAPN3 FKRP MYOT SGCB SGCG
33 dilated cardiomyopathy 9.2 FKRP SGCA SGCB SGCG
34 autosomal recessive limb-girdle muscular dystrophy type 2d 9.0 CAPN3 DYSF FKRP SGCA SGCB SGCG
35 muscular dystrophy, limb-girdle, autosomal recessive 6 9.0 CAPN3 DYSF FKRP SGCA SGCB SGCG
36 muscle tissue disease 8.8 CAPN3 CAV3 DYSF FKRP MYOT SGCA
37 autosomal recessive limb-girdle muscular dystrophy type 2a 8.8 CAPN3 DYSF FKRP MYOT SGCA SGCB
38 muscular disease 8.0 ANO5 CAPN3 CAV3 DYSF FKRP MYOF

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:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 CAPN3 CAV3 FKRP MYOF SGCA SGCB
2 muscle MP:0005369 9.28 ANO5 CAPN3 CAV3 DYSF FKRP MYOF

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:

42
Skeletal Muscle, Brain, Eye

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

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

# Title Authors Year
1
Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B. ( 30366248 )
2018

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
11.38 SGCA SGCB SGCG
2
Show member pathways
11.33 CAPN3 SGCA SGCB SGCG
3 10.71 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 Z disc GO:0030018 9.58 CAPN3 CAV3 MYOT
2 T-tubule GO:0030315 9.54 CAPN3 CAV3 DYSF
3 caveola GO:0005901 9.48 CAV3 MYOF
4 sarcoglycan complex GO:0016012 9.43 SGCA SGCB SGCG
5 dystroglycan complex GO:0016011 9.33 SGCA SGCB SGCG
6 sarcolemma GO:0042383 9.17 CAV3 DYSF FKRP MYOT SGCA SGCB
7 dystrophin-associated glycoprotein complex GO:0016010 9.13 CAV3 SGCA SGCB
8 membrane GO:0016020 10.16 ANO5 AUP1 CAV3 DYSF FKRP MYOF
9 integral component of membrane GO:0016021 10.09 ANO5 AUP1 CAV3 DYSF FKRP MYOF
10 plasma membrane GO:0005886 10.02 ANO5 CAPN3 CAV3 DYSF FKRP MYOF

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 muscle fiber development GO:0048747 9.5 DYSF MYOF SGCB
2 skeletal muscle tissue regeneration GO:0043403 9.49 DYSF SGCA
3 myoblast fusion GO:0007520 9.48 CAV3 MYOF
4 muscle cell cellular homeostasis GO:0046716 9.46 CAPN3 CAV3
5 glycerol metabolic process GO:0006071 9.43 DYSF MYOF
6 plasma membrane repair GO:0001778 9.43 CAV3 DYSF MYOF
7 regulation of calcium ion import GO:0090279 9.4 CAV3 DYSF
8 cardiac muscle cell development GO:0055013 9.37 CAV3 SGCB
9 muscle contraction GO:0006936 9.35 CAV3 DYSF MYOF MYOT SGCA
10 T-tubule organization GO:0033292 9.33 CAV3 DYSF MYOF
11 muscle organ development GO:0007517 9.02 CAPN3 CAV3 SGCA SGCB SGCG

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 9.16 CAPN3 CAV3
2 structural constituent of muscle GO:0008307 8.96 CAPN3 MYOT
3 alpha-tubulin binding GO:0043014 8.62 CAV3 DYSF

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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