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LGMD3
MCID: ATS298
MIFTS: 32

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b (LGMD3)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases
Anatomical: Muscle diseases Neuronal diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:0110276
ICD10 33 G71.0
UMLS 73 C1850889
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Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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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 Allograft rejection and Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle, and related phenotypes are cardiovascular system and muscle

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

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

(show all 43)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 32.2 MYOF DYSF CAPN3
2 muscular dystrophy, limb-girdle, autosomal recessive 2 31.6 SGCB SGCA DYSF CAV3 CAPN3
3 myopathy 30.2 CAPN3 CAV3 DYSF
4 limb-girdle muscular dystrophy 29.2 SGCG SGCB SGCA DYSF DMD CAV3
5 autosomal recessive limb-girdle muscular dystrophy 29.0 SGCG SGCA DYSF DMD CAV3 CAPN3
6 muscular dystrophy 28.9 SGCG SGCB SGCA MYOF DYSF DMD
7 muscular dystrophy, limb-girdle, autosomal recessive 8 10.2 DYSF CAPN3
8 miyoshi muscular dystrophy 1 10.1
9 localized lipodystrophy 10.1 DYSF DMD
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.1 CAPN3 DYSF
11 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 DMD CAPN3
12 autosomal dominant limb-girdle muscular dystrophy type 1c 10.1 DYSF CAV3
13 autosomal dominant limb-girdle muscular dystrophy type 1a 10.1 CAPN3 CAV3
14 autosomal recessive limb-girdle muscular dystrophy type 2l 10.1 SGCB DYSF
15 autosomal recessive limb-girdle muscular dystrophy type 2j 10.1 SGCB CAPN3
16 stormorken syndrome 10.0 DMD DYSF
17 creatine phosphokinase, elevated serum 10.0 DMD CAV3
18 muscular atrophy 10.0
19 autosomal dominant limb-girdle muscular dystrophy type 1f 10.0 SGCB CAV3
20 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0 DYSF DMD CAPN3
21 bethlem myopathy 1 10.0 DYSF DMD CAPN3
22 rigid spine muscular dystrophy 1 10.0 DMD DYSF
23 myositis 10.0 DYSF DMD CAPN3
24 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 CAV3 SGCB
25 myopathy, congenital 9.9 DMD DYSF
26 muscular dystrophy-dystroglycanopathy , type b, 5 9.9 CAV3 DMD
27 isolated hyperckemia 9.9 DMD CAV3 CAPN3
28 autosomal recessive limb-girdle muscular dystrophy type 2h 9.9 SGCG SGCB CAPN3
29 cardiomyopathy, dilated, 3b 9.9 SGCA DMD
30 muscular dystrophy, congenital merosin-deficient, 1a 9.9 SGCA DMD
31 mcleod syndrome 9.9 DMD SGCA
32 congenital fiber-type disproportion 9.9 DMD DYSF
33 muscular dystrophy, becker type 9.8 SGCA DYSF DMD
34 autosomal recessive limb-girdle muscular dystrophy type 2g 9.8 SGCG SGCB DYSF CAPN3
35 miyoshi muscular dystrophy 9.7 MYOF DYSF DMD CAV3 CAPN3
36 autosomal recessive limb-girdle muscular dystrophy type 2f 9.5 SGCG SGCB SGCA DYSF CAPN3
37 autosomal recessive limb-girdle muscular dystrophy type 2d 9.5 SGCG SGCB SGCA DYSF CAPN3
38 autosomal recessive limb-girdle muscular dystrophy type 2a 9.5 SGCG SGCB SGCA DYSF CAPN3
39 dilated cardiomyopathy 9.5 DMD SGCA SGCB SGCG
40 muscle tissue disease 9.3 SGCG SGCA DYSF DMD CAV3 CAPN3
41 autosomal recessive limb-girdle muscular dystrophy type 2c 9.3 CAPN3 DMD SGCG SGCB SGCA DYSF
42 muscular dystrophy, limb-girdle, autosomal recessive 6 9.3 SGCG SGCB SGCA DYSF DMD CAPN3
43 muscular disease 9.0 SGCG SGCB SGCA MYOF DYSF DMD

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.5 CAPN3 CAV3 DMD MYOF SGCA SGCB
2 muscle MP:0005369 9.23 CAPN3 CAV3 DMD DYSF MYOF SGCA
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Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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

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

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

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

41
Skeletal Muscle
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Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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

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

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

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

# Super pathways Score Top Affiliating Genes
1
Allograft rejection 1 37
Show member pathways
 12.2 DMD SGCA SGCB SGCG
2
Dilated cardiomyopathy (DCM) 37
Show member pathways
 11.49 DMD SGCA SGCB SGCG
3
Arrhythmogenic right ventricular cardiomyopathy (ARVC) 37
Show member pathways
 11.43 CAPN3 DMD SGCA SGCB SGCG
4
Smooth Muscle Contraction 66
10.81 CAV3 DYSF
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GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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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 membrane raft GO:0045121 9.61 CAV3 DMD SGCA
2 Z disc GO:0030018 9.54 CAPN3 CAV3 DMD
3 T-tubule GO:0030315 9.5 CAPN3 CAV3 DYSF
4 caveola GO:0005901 9.48 CAV3 MYOF
5 myofibril GO:0030016 9.46 CAPN3 DMD
6 sarcoglycan complex GO:0016012 9.43 SGCA SGCB SGCG
7 dystroglycan complex GO:0016011 9.33 SGCA SGCB SGCG
8 dystrophin-associated glycoprotein complex GO:0016010 9.26 CAV3 DMD SGCA SGCB
9 sarcolemma GO:0042383 9.1 CAV3 DMD DYSF SGCA SGCB SGCG
10 plasma membrane GO:0005886 10.01 CAPN3 CAV3 DMD DYSF MYOF SGCA

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.67 CAV3 DYSF MYOF SGCA
2 skeletal muscle tissue regeneration GO:0043403 9.58 DMD DYSF SGCA
3 regulation of catalytic activity GO:0050790 9.56 AUP1 CAPN3
4 regulation of heart rate GO:0002027 9.55 CAV3 DMD
5 myoblast fusion GO:0007520 9.54 CAV3 MYOF
6 glycerol metabolic process GO:0006071 9.52 DYSF MYOF
7 response to denervation involved in regulation of muscle adaptation GO:0014894 9.51 DMD SGCA
8 muscle cell cellular homeostasis GO:0046716 9.5 CAPN3 CAV3 DMD
9 regulation of calcium ion import GO:0090279 9.49 CAV3 DYSF
10 cardiac muscle cell development GO:0055013 9.48 CAV3 SGCB
11 nucleus localization GO:0051647 9.46 CAV3 DMD
12 regulation of skeletal muscle contraction GO:0014819 9.43 CAV3 DMD
13 plasma membrane repair GO:0001778 9.43 CAV3 DYSF MYOF
14 T-tubule organization GO:0033292 9.33 CAV3 DYSF MYOF
15 muscle fiber development GO:0048747 9.26 DMD DYSF MYOF SGCB
16 muscle organ development GO:0007517 9.1 CAPN3 CAV3 DMD 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 9.26 CAPN3 CAV3
2 structural constituent of muscle GO:0008307 9.16 CAPN3 DMD
3 alpha-tubulin binding GO:0043014 8.96 CAV3 DYSF
4 nitric-oxide synthase binding GO:0050998 8.62 CAV3 DMD
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Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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