MCID: ATS331
MIFTS: 37

Autosomal Recessive Limb-Girdle Muscular Dystrophy

Categories: Muscle diseases, Genetic diseases, Rare diseases, Neuronal diseases, Metabolic 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 55
Limb-Girdle Muscular Dystrophy, Autosomal Recessive 29

Classifications:



External Ids:

Disease Ontology 12 DOID:0110274
ICD10 33 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 2e and muscular dystrophy, limb-girdle, type 2j. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy 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 behavior/neurological and cardiovascular system

Related Diseases for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 67)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2e 34.2 CAPN3 SGCD SGCG
2 muscular dystrophy, limb-girdle, type 2j 33.3 CAPN3 FKRP
3 autosomal recessive limb-girdle muscular dystrophy type 2f 33.1 CAPN3 DYSF SGCA SGCD SGCG
4 autosomal recessive limb-girdle muscular dystrophy type 2b 32.6 ANO5 CAPN3 DYSF SGCA SGCG
5 autosomal recessive limb-girdle muscular dystrophy type 2h 32.4 CAPN3 DYSF FKRP SGCG TRIM32
6 muscular dystrophy, limb-girdle, type 2c 31.6 CAPN3 DMD DYSF SGCA SGCD SGCG
7 muscular dystrophy, limb-girdle, type 2g 31.5 CAPN3 DYSF FKRP TCAP TRIM32
8 muscular dystrophy-dystroglycanopathy , type c, 5 31.5 CAPN3 DYSF FKRP TCAP TRIM32
9 muscular dystrophy, limb-girdle, type 2d 31.5 CAPN3 DYSF FKRP SGCA SGCD SGCG
10 muscular dystrophy, limb-girdle, type 2l 31.3 ANO5 DYSF FKRP POMT1
11 muscular dystrophy, limb-girdle, type 2h 31.2 CAPN3 DYSF FKRP TCAP TRIM32
12 muscular dystrophy-dystroglycanopathy , type a, 1 29.9 FKRP POMT1
13 muscular dystrophy, limb-girdle, type 2b 29.1 CAPN3 DMD DYSF FKRP SGCA TCAP
14 muscular dystrophy, limb-girdle, type 2f 28.7 CAPN3 DMD DYSF FKRP SGCA SGCD
15 walker-warburg syndrome 28.7 DMD FKRP POMT1 SGCA
16 muscular dystrophy 24.8 ANO5 CAPN3 DMD DYSF FKRP POMT1
17 limb-girdle muscular dystrophy 24.8 ANO5 CAPN3 DMD DYSF FKRP POMT1
18 muscular dystrophy, limb-girdle, type 2a 12.2
19 muscular dystrophy, limb-girdle, type 2q 12.2
20 muscular dystrophy-dystroglycanopathy , type c, 3 12.1
21 muscular dystrophy, limb-girdle, type 2x 12.1
22 muscular dystrophy, limb-girdle, type 2w 12.1
23 muscular dystrophy-dystroglycanopathy , type c, 1 12.1
24 muscular dystrophy, limb-girdle, type 2r 12.1
25 muscular dystrophy-dystroglycanopathy , type c, 7 12.1
26 muscular dystrophy-dystroglycanopathy , type c, 4 12.1
27 muscular dystrophy-dystroglycanopathy , type c, 2 12.1
28 muscular dystrophy-dystroglycanopathy , type c, 9 12.1
29 muscular dystrophy-dystroglycanopathy , type c, 14 12.1
30 muscular dystrophy, limb-girdle, type 2z 11.9
31 localized lipodystrophy 10.5 DMD DYSF
32 cardiomyopathy, dilated, 3b 10.4 DMD SGCA
33 dysferlinopathy 10.4 CAPN3 DYSF
34 muscular dystrophy, limb-girdle, type 1c 10.3 DYSF FKRP
35 mcleod syndrome 10.3 DMD SGCA
36 autosomal dominant limb-girdle muscular dystrophy type 1c 10.3 DYSF FKRP
37 muscular dystrophy, congenital merosin-deficient, 1a 10.3 DMD SGCA
38 stormorken syndrome 10.3 DMD DYSF
39 anterior compartment syndrome 10.2 ANO5 DYSF
40 vacuolar neuromyopathy 10.2
41 vaginitis 10.2
42 muscular dystrophy, becker type 10.2 DMD DYSF SGCA
43 muscular dystrophy, congenital, 1b 10.1 DMD FKRP
44 familial isolated dilated cardiomyopathy 10.0 DMD SGCD TCAP
45 bethlem myopathy 1 10.0 CAPN3 DMD DYSF
46 myositis 10.0 CAPN3 DMD DYSF
47 rigid spine muscular dystrophy 1 9.9 DMD DYSF
48 polyglucosan body myopathy 1 with or without immunodeficiency 9.8 CAPN3 DMD FKRP
49 congenital muscular dystrophy without intellectual disability 9.8 FKRP POMT1
50 congenital muscular dystrophy with intellectual disability 9.8 FKRP POMT1

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

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.86 ANO5 DMD DYSF FKRP SGCD SGCG
2 cardiovascular system MP:0005385 9.76 CAPN3 DMD FKRP POMT1 SGCA SGCD
3 homeostasis/metabolism MP:0005376 9.65 SGCG TCAP TRIM32 ANO5 CAPN3 DMD
4 muscle MP:0005369 9.36 ANO5 CAPN3 DMD DYSF FKRP POMT1

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 29

Anatomical Context for Autosomal Recessive Limb-Girdle Muscular Dystrophy

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

41
Skeletal Muscle

Publications for Autosomal Recessive Limb-Girdle Muscular Dystrophy

Articles related to Autosomal Recessive Limb-Girdle Muscular Dystrophy:

(show all 35)
# 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
Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assay. ( 19056483 )
2009
5
A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12. ( 17008331 )
2007
6
Anaesthetic management of a woman with autosomal recessive limb-girdle muscular dystrophy for emergency caesarean section. ( 17643284 )
2007
7
Novel splice site mutation in the caveolin-3 gene leading to autosomal recessive limb girdle muscular dystrophy. ( 16730439 )
2006
8
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
9
Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles. ( 15003303 )
2004
10
Molecular bases of autosomal recessive limb-girdle muscular dystrophies. ( 14959561 )
2003
11
Strategy for mutation analysis in the autosomal recessive limb-girdle muscular dystrophies. ( 11166169 )
2001
12
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
13
Isolated loss of gamma-sarcoglycan: diagnostic implications in autosomal recessive limb-girdle muscular dystrophies. ( 11353430 )
2001
14
Molecular diagnosis and counseling in a family presenting compound heterozygosity for autosomal recessive limb-girdle muscular dystrophy. ( 11693784 )
2001
15
Spin-lock magnetic resonance imaging of muscle in patients with autosomal recessive limb girdle muscular dystrophy. ( 10800259 )
2000
16
Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy. ( 10993494 )
2000
17
A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3. ( 10838249 )
2000
18
Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population. ( 10385046 )
1999
19
Magnetization transfer imaging of skeletal muscle in autosomal recessive limb girdle muscular dystrophy. ( 10433295 )
1999
20
Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. ( 10069710 )
1999
21
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
22
Mutations in the delta-sarcoglycan gene are a rare cause of autosomal recessive limb-girdle muscular dystrophy (LGMD2). ( 10735275 )
1997
23
The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12. ( 9245996 )
1997
24
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. ( 9266733 )
1997
25
Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families. ( 8929943 )
1996
26
The sarcoglycan complex in the six autosomal recessive limb-girdle muscular dystrophies. ( 8968750 )
1996
27
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
28
Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the delta-sarcoglycan gene. ( 8841194 )
1996
29
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. ( 7795603 )
1995
30
Adhalin gene mutations and autosomal recessive limb-girdle muscular dystrophy. ( 7668818 )
1995
31
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
32
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
33
Estimate of severe autosomal recessive limb-girdle muscular dystrophy (LGMD2C, LGMD2D) among sporadic muscular dystrophy males: a study of 415 familes. ( 8825917 )
1995
34
A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. ( 8012357 )
1994
35
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

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 9.5 CAPN3 DMD TCAP
2 sarcoglycan complex GO:0016012 9.43 SGCA SGCD SGCG
3 myofibril GO:0030016 9.4 CAPN3 DMD
4 T-tubule GO:0030315 9.37 CAPN3 DYSF
5 dystroglycan complex GO:0016011 9.33 SGCA SGCD SGCG
6 dystrophin-associated glycoprotein complex GO:0016010 9.26 DMD FKRP SGCA SGCD
7 sarcolemma GO:0042383 9.1 DMD DYSF FKRP SGCA SGCD SGCG
8 plasma membrane GO:0005886 10.03 ANO5 CAPN3 DMD DYSF FKRP SGCA

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.61 SGCA SGCD SGCG
2 cardiac muscle contraction GO:0060048 9.54 DMD TCAP
3 sarcomere organization GO:0045214 9.52 CAPN3 TCAP
4 muscle filament sliding GO:0030049 9.51 DMD TCAP
5 cardiac muscle tissue development GO:0048738 9.49 SGCD SGCG
6 skeletal muscle tissue regeneration GO:0043403 9.48 DMD SGCA
7 positive regulation of proteolysis GO:0045862 9.46 CAPN3 TRIM32
8 response to muscle stretch GO:0035994 9.4 DMD TCAP
9 protein O-linked mannosylation GO:0035269 9.37 FKRP POMT1
10 heart contraction GO:0060047 9.32 SGCD SGCG
11 response to denervation involved in regulation of muscle adaptation GO:0014894 9.26 DMD SGCA
12 muscle cell development GO:0055001 9.16 SGCD SGCG
13 muscle cell cellular homeostasis GO:0046716 9.13 CAPN3 DMD TRIM32
14 muscle organ development GO:0007517 9.02 CAPN3 DMD SGCA SGCD SGCG

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

# Name GO ID Score Top Affiliating Genes
1 myosin binding GO:0017022 9.16 DMD TRIM32
2 titin binding GO:0031432 8.96 CAPN3 TCAP
3 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 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
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