MCID: ATS331
MIFTS: 40

Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy 12 15
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 56
Limb-Girdle Muscular Dystrophy, Autosomal Recessive 30

Classifications:



External Ids:

Disease Ontology 12 DOID:0110274
ICD10 34 G71.0

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Disease Ontology : 12 A limb-girdle muscular dystrophy has material basis in autosomal recessive inheritance.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy, also known as muscular dystrophy, limb-girdle, autosomal recessive, is related to autosomal recessive limb-girdle muscular dystrophy type 2j and autosomal recessive limb-girdle muscular dystrophy type 2g. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy is DYSF (Dysferlin), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. Affiliated tissues include skeletal muscle, brain and eye, and related phenotypes are Increased gamma-H2AX phosphorylation and behavior/neurological

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2j 34.3 CAPN3 FKRP
2 autosomal recessive limb-girdle muscular dystrophy type 2g 34.1 CAPN3 DYSF SGCG TCAP
3 autosomal recessive limb-girdle muscular dystrophy type 2l 34.0 ANO5 DYSF FKRP
4 autosomal recessive limb-girdle muscular dystrophy type 2f 33.9 CAPN3 DYSF SGCA SGCD SGCG
5 autosomal recessive limb-girdle muscular dystrophy type 2a 33.7 CAPN3 DYSF FKRP SGCA SGCG
6 autosomal recessive limb-girdle muscular dystrophy type 2h 33.7 CAPN3 FKRP SGCG TRIM32
7 autosomal recessive limb-girdle muscular dystrophy type 2c 33.5 CAPN3 DMD DYSF SGCA SGCD SGCG
8 autosomal recessive limb-girdle muscular dystrophy type 2d 33.4 CAPN3 DYSF FKRP SGCA SGCD SGCG
9 muscular dystrophy-dystroglycanopathy , type c, 4 33.3 ANO5 FKRP
10 autosomal recessive limb-girdle muscular dystrophy type 2b 33.0 CAPN3 CAV3 DMD DYSF SGCA SGCG
11 ullrich congenital muscular dystrophy 1 32.6 CAPN3 LAMA2
12 muscular dystrophy, limb-girdle, autosomal recessive 8 32.4 CAPN3 DYSF FKRP TCAP TRIM32
13 muscular dystrophy-dystroglycanopathy , type c, 5 32.3 CAPN3 DYSF FKRP LAMA2 TCAP TRIM32
14 muscular dystrophy, limb-girdle, autosomal recessive 7 32.3 CAPN3 DMD DYSF FKRP TCAP TRIM32
15 muscular dystrophy, limb-girdle, autosomal recessive 2 32.1 CAPN3 CAV3 DYSF FKRP SGCA TCAP
16 muscular dystrophy, limb-girdle, autosomal recessive 6 31.5 CAPN3 DMD DYSF FKRP SGCA SGCD
17 walker-warburg syndrome 30.0 DMD FKRP LAMA2 SGCA
18 muscular dystrophy 28.2 ANO5 CAPN3 CAV3 DMD DYSF FKRP
19 limb-girdle muscular dystrophy 28.0 ANO5 CAPN3 CAV3 DMD DYSF FKRP
20 autosomal recessive limb-girdle muscular dystrophy type 2q 12.8
21 autosomal recessive limb-girdle muscular dystrophy type 2w 12.8
22 autosomal recessive limb-girdle muscular dystrophy type 2x 12.7
23 muscular dystrophy-dystroglycanopathy , type c, 1 12.5
24 muscular dystrophy, limb-girdle, autosomal recessive 17 12.5
25 muscular dystrophy, limb-girdle, autosomal recessive 3 12.3
26 muscular dystrophy-dystroglycanopathy , type c, 3 12.3
27 muscular dystrophy-dystroglycanopathy , type c, 7 12.3
28 muscular dystrophy-dystroglycanopathy , type c, 2 12.3
29 muscular dystrophy-dystroglycanopathy , type c, 9 12.3
30 muscular dystrophy-dystroglycanopathy , type c, 14 12.3
31 muscular dystrophy, limb-girdle, autosomal recessive 25 12.2
32 myopathy, myofibrillar, 1 12.1
33 muscular dystrophy, limb-girdle, autosomal recessive 1 12.1
34 muscular dystrophy, limb-girdle, autosomal recessive 18 12.1
35 muscular dystrophy, limb-girdle, autosomal recessive 21 12.1
36 muscular dystrophy, limb-girdle, autosomal recessive 5 12.0
37 muscular dystrophy, limb-girdle, autosomal recessive 12 12.0
38 muscular dystrophy-dystroglycanopathy , type c, 8 11.8
39 muscular dystrophy, limb-girdle, autosomal recessive 10 11.7
40 muscular dystrophy, limb-girdle, autosomal recessive 4 11.5
41 muscular dystrophy, autosomal recessive, with cardiomyopathy and triangular tongue 11.5
42 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.5
43 muscular dystrophy, limb-girdle, autosomal recessive 23 11.5
44 vacuolar neuromyopathy 10.3
45 localized lipodystrophy 10.2 DMD DYSF
46 dysferlinopathy 10.2 CAPN3 DYSF
47 mcleod syndrome 10.2 DMD SGCA
48 cardiomyopathy, dilated, 1b 10.1 DMD LAMA2
49 paresthesia 10.1 CAPN3 FKRP
50 myopathy, x-linked, with excessive autophagy 10.1 DMD LAMA2

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



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy

Symptoms & Phenotypes for Autosomal Recessive Limb-Girdle Muscular Dystrophy

GenomeRNAi Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased gamma-H2AX phosphorylation GR00053-A 9.1 ANO5 DMD DYSF LAMA2 SGCA TCAP

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 ANO5 DMD DYSF FKRP LAMA2 SGCD
2 cardiovascular system MP:0005385 9.76 CAPN3 CAV3 DMD FKRP SGCA SGCD
3 homeostasis/metabolism MP:0005376 9.73 ANO5 CAPN3 CAV3 DMD DYSF FKRP
4 muscle MP:0005369 9.4 ANO5 CAPN3 CAV3 DMD DYSF FKRP

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Genetic Tests for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Genetic tests related to Autosomal Recessive Limb-Girdle Muscular Dystrophy:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Autosomal Recessive 30

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

42
Skeletal Muscle, Brain, Eye, Tongue

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy:

(show all 27)
# Title Authors Year
1
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. ( 23687351 )
2013
2
Mutation in exon 1f of PLEC, leading to disruption of plectin isoform 1f, causes autosomal-recessive limb-girdle muscular dystrophy. ( 21109228 )
2010
3
Normal vaginal delivery in a patient with autosomal recessive limb-girdle muscular dystrophy. ( 27582849 )
2010
4
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. ( 17008331 )
2007
5
Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. ( 17643284 )
2007
6
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. ( 16730439 )
2006
7
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene. ( 15792865 )
2005
8
Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles. ( 15003303 )
2004
9
Deficiency of the 50 kDa dystrophin-associated-glycoprotein (adhalin) in an Indian autosomal recessive limb girdle muscular dystrophy patient : immunochemical analysis and clinical aspects. ( 11303236 )
2001
10
Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy. ( 11693784 )
2001
11
Spin-lock magnetic resonance imaging of muscle in patients with autosomal recessive limb girdle muscular dystrophy. ( 10800259 )
2000
12
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. ( 10838249 )
2000
13
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. ( 10993494 )
2000
14
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. ( 10385046 )
1999
15
Magnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy. ( 10433295 )
1999
16
A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus. ( 9634523 )
1998
17
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. ( 9245996 )
1997
18
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). ( 10735275 )
1997
19
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. ( 8776597 )
1996
20
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. ( 8841194 )
1996
21
Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region. ( 7665169 )
1995
22
Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy. ( 7668818 )
1995
23
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. ( 7795603 )
1995
24
A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy. ( 8528203 )
1995
25
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. ( 8825917 )
1995
26
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. ( 8012357 )
1994
27
Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence. ( 2012126 )
1991

Variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Copy number variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 92418 15 40427592 40491807 Genomic rearrangemen t CAPN3 Autosomal-recessive limb girdle muscular dystrophy
2 147894 2 71534267 71767401 Deletion DYSF Autosomal-recessive limb girdle muscular dystrophy

Expression for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.35 CAV3 DMD DYSF TCAP
2
Show member pathways
12.29 DMD LAMA2 SGCA SGCD SGCG
3
Show member pathways
11.6 DMD LAMA2 SGCA SGCD SGCG
4
Show member pathways
11.51 CAPN3 DMD LAMA2 SGCA SGCD SGCG
5 10.92 CAV3 DYSF
6 10.54 DMD LAMA2

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

# Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.62 CAPN3 CAV3 DMD TCAP
2 membrane raft GO:0045121 9.61 CAV3 DMD SGCA
3 T-tubule GO:0030315 9.54 CAPN3 CAV3 DYSF
4 myofibril GO:0030016 9.46 CAPN3 DMD
5 sarcoglycan complex GO:0016012 9.43 SGCA SGCD SGCG
6 dystroglycan complex GO:0016011 9.33 SGCA SGCD SGCG
7 dystrophin-associated glycoprotein complex GO:0016010 9.26 CAV3 DMD SGCA SGCD
8 sarcolemma GO:0042383 9.23 CAV3 DMD DYSF FKRP LAMA2 SGCA
9 plasma membrane GO:0005886 10.06 ANO5 CAPN3 CAV3 DMD DYSF FKRP

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.69 CAV3 DYSF SGCA
2 cardiac muscle contraction GO:0060048 9.58 DMD TCAP
3 sarcomere organization GO:0045214 9.58 CAPN3 TCAP
4 muscle filament sliding GO:0030049 9.57 DMD TCAP
5 regulation of heart rate GO:0002027 9.56 CAV3 DMD
6 positive regulation of proteolysis GO:0045862 9.55 CAPN3 TRIM32
7 response to muscle stretch GO:0035994 9.54 DMD TCAP
8 heart contraction GO:0060047 9.52 SGCD SGCG
9 muscle fiber development GO:0048747 9.49 DMD DYSF
10 response to denervation involved in regulation of muscle adaptation GO:0014894 9.48 DMD SGCA
11 regulation of calcium ion import GO:0090279 9.46 CAV3 DYSF
12 nucleus localization GO:0051647 9.43 CAV3 DMD
13 plasma membrane repair GO:0001778 9.4 CAV3 DYSF
14 T-tubule organization GO:0033292 9.37 CAV3 DYSF
15 skeletal muscle tissue regeneration GO:0043403 9.33 DMD DYSF SGCA
16 detection of muscle stretch GO:0035995 9.32 CAV3 TCAP
17 regulation of skeletal muscle contraction GO:0014819 9.26 CAV3 DMD
18 muscle cell cellular homeostasis GO:0046716 9.26 CAPN3 CAV3 DMD TRIM32
19 muscle organ development GO:0007517 9.17 CAPN3 CAV3 DMD LAMA2 SGCA SGCD

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

# Name GO ID Score Top Affiliating Genes
1 alpha-tubulin binding GO:0043014 9.37 CAV3 DYSF
2 myosin binding GO:0017022 9.32 DMD TRIM32
3 nitric-oxide synthase binding GO:0050998 9.26 CAV3 DMD
4 titin binding GO:0031432 9.16 CAPN3 TCAP
5 dystroglycan binding GO:0002162 8.96 DMD FKRP
6 structural constituent of muscle GO:0008307 8.8 CAPN3 DMD TCAP

Sources for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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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