LGMD3
MCID: ATS298
MIFTS: 33

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

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 Allograft rejection and Dilated cardiomyopathy (DCM). Affiliated tissues include skeletal muscle, 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 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 top 50) (show all 52)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 32.4 CAPN3 DYSF MYOF
2 muscular dystrophy, limb-girdle, autosomal recessive 2 30.9 CAPN3 CAV3 DYSF FKRP MYOT SGCA
3 myopathy 30.1 CAPN3 CAV3 DYSF MYOT
4 autosomal recessive limb-girdle muscular dystrophy 28.1 CAPN3 CAV3 DMD DYSF FKRP SGCA
5 limb-girdle muscular dystrophy 27.9 CAPN3 CAV3 DMD DYSF FKRP MYOT
6 muscular dystrophy 27.5 CAPN3 CAV3 DMD DYSF FKRP MYOF
7 muscular dystrophy, limb-girdle, autosomal dominant 3 11.6
8 autosomal dominant limb-girdle muscular dystrophy 10.2 CAV3 MYOT
9 miyoshi muscular dystrophy 1 10.2
10 paresthesia 10.2 CAPN3 FKRP
11 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0 CAPN3 DYSF FKRP
12 muscular dystrophy-dystroglycanopathy , type c, 5 10.0 CAPN3 DYSF FKRP
13 muscular atrophy 10.0
14 localized lipodystrophy 10.0 DMD DYSF
15 muscular dystrophy, limb-girdle, autosomal dominant 1 9.9 CAV3 MYOT SGCB
16 stormorken syndrome 9.9 DMD DYSF
17 myopathy, myofibrillar, 2 9.9 DMD MYOT
18 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 DYSF FKRP SGCB
19 creatine phosphokinase, elevated serum 9.9 CAV3 DMD
20 rigid spine muscular dystrophy 1 9.9 DMD DYSF
21 muscular dystrophy, congenital, 1b 9.8 DMD FKRP
22 bethlem myopathy 1 9.8 CAPN3 DMD DYSF
23 myositis 9.8 CAPN3 DMD DYSF
24 muscle eye brain disease 9.8 FKRP SGCA
25 myopathy, congenital 9.8 DMD DYSF
26 muscular dystrophy-dystroglycanopathy , type a, 1 9.8 DMD FKRP
27 cardiomyopathy, dilated, 3b 9.8 DMD SGCA
28 muscular dystrophy-dystroglycanopathy , type a, 4 9.8 DMD FKRP
29 muscular dystrophy, congenital merosin-deficient, 1a 9.8 DMD SGCA
30 mcleod syndrome 9.8 DMD SGCA
31 muscular dystrophy-dystroglycanopathy , type b, 6 9.8 DMD FKRP
32 polyglucosan body myopathy 1 with or without immunodeficiency 9.7 CAPN3 DMD FKRP
33 autosomal recessive limb-girdle muscular dystrophy type 2j 9.7 CAPN3 FKRP MYOT SGCB
34 muscular dystrophy, becker type 9.7 DMD DYSF SGCA
35 atrial standstill 1 9.7 DMD FKRP MYOT
36 muscular dystrophy-dystroglycanopathy , type b, 5 9.6 CAV3 DMD FKRP
37 congenital fiber-type disproportion 9.6 DMD DYSF
38 muscular dystrophy, congenital, lmna-related 9.6 DMD FKRP
39 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF MYOT SGCB SGCG
40 isolated hyperckemia 9.5 CAPN3 CAV3 DMD FKRP
41 walker-warburg syndrome 9.5 DMD FKRP SGCA
42 autosomal recessive limb-girdle muscular dystrophy type 2h 9.4 CAPN3 FKRP MYOT SGCB SGCG
43 autosomal recessive limb-girdle muscular dystrophy type 2f 9.4 CAPN3 DYSF SGCA SGCB SGCG
44 muscular dystrophy, limb-girdle, autosomal recessive 7 9.4 CAPN3 DMD DYSF FKRP MYOT
45 miyoshi muscular dystrophy 9.3 CAPN3 CAV3 DMD DYSF MYOF MYOT
46 autosomal recessive limb-girdle muscular dystrophy type 2d 9.1 CAPN3 DYSF FKRP SGCA SGCB SGCG
47 autosomal recessive limb-girdle muscular dystrophy type 2c 9.0 CAPN3 DMD DYSF SGCA SGCB SGCG
48 dilated cardiomyopathy 8.9 DMD FKRP SGCA SGCB SGCG
49 autosomal recessive limb-girdle muscular dystrophy type 2a 8.9 CAPN3 DYSF FKRP MYOT SGCA SGCB
50 muscular dystrophy, limb-girdle, autosomal recessive 6 8.7 CAPN3 DMD DYSF FKRP SGCA SGCB

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 9.56 CAPN3 CAV3 DMD FKRP MYOF SGCA
2 muscle MP:0005369 9.28 CAPN3 CAV3 DMD 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

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

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:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.88 DMD MYOT SGCA SGCB SGCG
2 membrane raft GO:0045121 9.63 CAV3 DMD SGCA
3 Z disc GO:0030018 9.62 CAPN3 CAV3 DMD MYOT
4 T-tubule GO:0030315 9.58 CAPN3 CAV3 DYSF
5 myofibril GO:0030016 9.49 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 9.23 CAV3 DMD DYSF FKRP MYOT SGCA
10 membrane GO:0016020 10.13 AUP1 CAV3 DMD DYSF FKRP MYOF
11 plasma membrane GO:0005886 10.07 CAPN3 CAV3 DMD DYSF FKRP MYOF

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 skeletal muscle tissue regeneration GO:0043403 9.58 DMD DYSF SGCA
2 regulation of heart rate GO:0002027 9.55 CAV3 DMD
3 muscle contraction GO:0006936 9.55 CAV3 DYSF MYOF MYOT SGCA
4 myoblast fusion GO:0007520 9.54 CAV3 MYOF
5 muscle cell cellular homeostasis GO:0046716 9.54 CAPN3 CAV3 DMD
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 plasma membrane repair GO:0001778 9.5 CAV3 DYSF MYOF
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 T-tubule organization GO:0033292 9.43 CAV3 DYSF MYOF
14 muscle fiber development GO:0048747 9.26 DMD DYSF MYOF SGCB
15 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 alpha-tubulin binding GO:0043014 9.26 CAV3 DYSF
2 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
3 dystroglycan binding GO:0002162 8.96 DMD FKRP
4 structural constituent of muscle GO:0008307 8.8 CAPN3 DMD MYOT

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
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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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