MCID: ATS279
MIFTS: 31

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

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

Aliases & Classifications for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

MalaCards integrated aliases for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a:

Name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 12 15
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency 12
Muscular Dystrophy, Limb-Girdle, Type 2a 12
Leyden-Moebius Muscular Dystrophy 12
Pelvofemoral Muscular Dystrophy 12
Primary Calpainopathy 12
Lgmd2a 12

Classifications:



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Disease Ontology 12 DOID:0110275
ICD10 32 G71.0

Summaries for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

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 proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.

MalaCards based summary : Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a, also known as limb-girdle muscular dystrophy due to calpain deficiency, is related to dysferlinopathy and emery-dreifuss muscular dystrophy. An important gene associated with Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a is CAPN3 (Calpain 3), and among its related pathways/superpathways are Focal Adhesion and Allograft rejection. Related phenotypes are Decreased viability and Decreased viability

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

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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 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
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

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

(show top 50) (show all 124)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 30.7 DYSF CAPN3
2 emery-dreifuss muscular dystrophy 30.2 LMNA LAMA2 DMD
3 muscular dystrophy, limb-girdle, autosomal recessive 8 29.7 TTN TRIM32 TCAP FKRP DYSF CAPN3
4 facioscapulohumeral muscular dystrophy 1 29.5 SGCG SGCA MYOT LMNA FKRP DYSF
5 muscular dystrophy, limb-girdle, autosomal recessive 7 29.2 TTN TRIM32 TCAP MYOT FKRP DYSF
6 limb-girdle muscular dystrophy 29.0 TTN TRIM32 TCAP SGCG SGCD SGCB
7 muscular dystrophy-dystroglycanopathy , type c, 5 28.5 TTN TRIM32 TCAP SGCG SGCA LAMA2
8 muscular dystrophy, duchenne type 28.3 TTN TCAP SGCD SGCB SGCA LAMA2
9 muscular dystrophy, limb-girdle, autosomal recessive 6 28.1 TTN TRIM32 TCAP SGCG SGCD SGCB
10 miyoshi muscular dystrophy 28.0 TTN TCAP SGCG SGCD SGCA MYOT
11 bethlem myopathy 1 27.7 SGCG SGCD SGCA MYOT LMNA LAMA2
12 muscular dystrophy, limb-girdle, autosomal recessive 2 27.2 TTN TRIM32 TCAP SGCG SGCD SGCB
13 autosomal recessive limb-girdle muscular dystrophy 26.8 TTN TRIM32 TCAP SGCG SGCD SGCB
14 muscular dystrophy 26.7 TTN TRIM32 TCAP SGCG SGCD SGCB
15 myopathy 26.3 TTN TRIM32 TCAP SGCG SGCD SGCB
16 muscular dystrophy limb girdle type 2a, erb type 12.7
17 muscular dystrophy, limb-girdle, autosomal recessive 1 12.0
18 calpain-3-related limb-girdle muscular dystrophy r1 11.8
19 muscular dystrophy, limb-girdle, autosomal recessive 25 11.2
20 paresthesia 10.5 FKRP CAPN3
21 localized lipodystrophy 10.4 DYSF DMD
22 reducing body myopathy 10.4 TTN DMD
23 autosomal dominant distal myopathy 10.4 MYOT DMD
24 muscular dystrophy, limb-girdle, type 1h 10.4 MYOT CAV3
25 cardioneuromyopathy with hyaline masses and nemaline rods 10.4 TTN DMD
26 progressive muscular dystrophy 10.4 SGCA DMD
27 congenital muscular dystrophy-dystroglycanopathy type a5 10.3 FKRP DAG1
28 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 MYOT ANO5
29 polyglucosan body myopathy 1 with or without immunodeficiency 10.3 FKRP DMD CAPN3
30 congenital muscular dystrophy-dystroglycanopathy type a1 10.3 FKRP DAG1
31 rippling muscle disease 2 10.3 FKRP DYSF CAV3
32 reducing body myopathy 1a 10.3 TTN TCAP MYOT
33 muscular dystrophy, limb-girdle, autosomal dominant 3 10.3 MYOT CAV3 ANO5
34 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 MYOT DYSF DAG1
35 autosomal recessive disease 10.3
36 muscular dystrophy-dystroglycanopathy , type c, 3 10.2 FKRP DAG1 ANO5
37 congenital muscular dystrophy-dystroglycanopathy a14 10.2 LAMA2 DAG1
38 myopathy, myofibrillar, 4 10.2 TCAP MYOT
39 mcleod syndrome 10.2 SGCA DMD
40 familial isolated arrhythmogenic ventricular dysplasia, left dominant form 10.2 TTN LMNA
41 muscle eye brain disease 10.2 SGCA FKRP DAG1
42 miyoshi muscular dystrophy 3 10.2 SGCD DYSF CAPN3 ANO5
43 muscular dystrophy-dystroglycanopathy , type c, 14 10.2 DAG1 ANO5
44 familial isolated arrhythmogenic ventricular dysplasia, biventricular form 10.2 TTN LMNA
45 autosomal recessive limb-girdle muscular dystrophy type 2q 10.2 TCAP MYOT DYSF ANO5
46 familial isolated arrhythmogenic ventricular dysplasia, right dominant form 10.2 TTN LMNA
47 muscular atrophy 10.2
48 cobblestone lissencephaly 10.2 FKRP DMD DAG1
49 autosomal recessive limb-girdle muscular dystrophy type 2x 10.2 MYOT DYSF CAV3 ANO5
50 myopathy, myofibrillar, 9, with early respiratory failure 10.2 TTN TCAP MYOT CAPN3

Graphical network of the top 20 diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a:



Diseases related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

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

GenomeRNAi Phenotypes related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a according to GeneCards Suite gene sharing:

26 (show all 15)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.27 CAPN3
2 Decreased viability GR00055-A-2 10.27 CAPN3
3 Decreased viability GR00055-A-3 10.27 CAPN3
4 Decreased viability GR00221-A-2 10.27 TTN
5 Decreased viability GR00221-A-4 10.27 DYSF TTN
6 Decreased viability GR00240-S-1 10.27 LMNA TCAP
7 Decreased viability GR00249-S 10.27 DAG1 LMNA SGCA TCAP
8 Decreased viability GR00301-A 10.27 DYSF
9 Decreased viability GR00342-S-1 10.27 TTN
10 Decreased viability GR00342-S-3 10.27 TTN
11 Decreased viability GR00381-A-1 10.27 FKRP LAMA2 SGCA TRIM32
12 Decreased viability GR00386-A-1 10.27 DAG1 LMNA
13 Decreased viability GR00402-S-2 10.27 DMD SGCA SGCB TCAP TRIM32
14 Increased gamma-H2AX phosphorylation GR00053-A 9.56 ANO5 CAPN1 DMD DYSF LAMA2 LMNA
15 Increased the percentage of infected cells GR00402-S-1 8.32 CAPN1

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.25 ANO5 CAST DAG1 DMD DYSF FKRP
2 cardiovascular system MP:0005385 10.25 CAPN1 CAPN3 CAST CAV3 DAG1 DMD
3 homeostasis/metabolism MP:0005376 10.19 ANO5 CAPN1 CAPN3 CAST CAV3 DAG1
4 cellular MP:0005384 10.15 ANO5 CAPN1 CAST CAV3 DAG1 DMD
5 growth/size/body region MP:0005378 10.1 CAPN3 CAPN6 CAST DAG1 DMD FKRP
6 immune system MP:0005387 9.9 CAPN1 CAST CAV3 DMD DYSF FKRP
7 muscle MP:0005369 9.89 ANO5 CAPN3 CAPN6 CAV3 DAG1 DMD
8 normal MP:0002873 9.28 CAPN1 CAPN3 DAG1 DMD FKRP LMNA

Drugs & Therapeutics for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

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

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

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

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

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

# Title Authors PMID Year
1
[Coincidence of hereditary motor and sensory neuropathy type 1A and limb girdle muscular dystrophy type 2A]. 61
30585608 2018
2
Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan. 61
23597518 2015
3
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 61
21204801 2011
4
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 61
18854869 2009
5
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 61
19287313 2009
6
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. 61
17979987 2007
7
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. 61
16971480 2007

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

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

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

Pathways for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 LAMA2 CAV3 CAPN6 CAPN3 CAPN1
2
Show member pathways
12.61 SGCG SGCD SGCB SGCA LAMA2 DMD
3
Show member pathways
12.58 TTN TCAP DYSF DMD CAV3
4
Show member pathways
12.45 LAMA2 DMD DAG1 CAST CAPN6 CAPN3
5
Show member pathways
12.3 LMNA DMD DAG1 CAST CAPN6 CAPN3
6
Show member pathways
11.74 SGCG SGCD SGCB SGCA LMNA LAMA2
7
Show member pathways
11.55 TTN SGCG SGCD SGCB SGCA LMNA
8 11.47 TTN TCAP DMD
9
Show member pathways
11.24 LMNA CAST CAPN1
10 10.82 LAMA2 DMD DAG1

GO Terms for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

Cellular components related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.27 SGCG SGCD SGCB SGCA MYOT FKRP
2 cytoplasm GO:0005737 10.27 TTN TRIM32 TCAP SGCG SGCD SGCB
3 cytoskeleton GO:0005856 10.01 SGCG SGCD SGCB SGCA MYOT DMD
4 Z disc GO:0030018 9.8 TTN TCAP MYOT DMD CAV3 CAPN3
5 membrane raft GO:0045121 9.78 SGCA DMD DAG1 CAV3
6 T-tubule GO:0030315 9.61 DYSF CAV3 CAPN3
7 sarcoglycan complex GO:0016012 9.56 SGCG SGCD SGCB SGCA
8 dystroglycan complex GO:0016011 9.55 SGCG SGCD SGCB SGCA DAG1
9 costamere GO:0043034 9.49 DMD DAG1
10 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCD SGCB SGCA DMD DAG1 CAV3
11 sarcolemma GO:0042383 9.36 SGCG SGCD SGCB SGCA MYOT LAMA2

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.79 TTN CAPN3 CAPN1
2 muscle contraction GO:0006936 9.72 TTN SGCA MYOT DYSF CAV3
3 sarcomere organization GO:0045214 9.69 TTN TCAP CAPN3
4 muscle filament sliding GO:0030049 9.67 TTN TCAP DMD
5 cardiac muscle contraction GO:0060048 9.67 TTN TCAP SGCD DMD
6 positive regulation of proteolysis GO:0045862 9.64 TRIM32 CAPN3
7 response to muscle stretch GO:0035994 9.64 TCAP DMD
8 heart contraction GO:0060047 9.63 SGCG SGCD
9 cardiac muscle tissue morphogenesis GO:0055008 9.63 TTN TCAP
10 muscle fiber development GO:0048747 9.63 SGCB DYSF DMD
11 cardiac myofibril assembly GO:0055003 9.62 TTN TCAP
12 plasma membrane repair GO:0001778 9.62 DYSF CAV3
13 cardiac muscle hypertrophy GO:0003300 9.61 TTN TCAP
14 cardiac muscle fiber development GO:0048739 9.61 TTN TCAP SGCD
15 regulation of calcium ion import GO:0090279 9.6 DYSF CAV3
16 cardiac muscle cell development GO:0055013 9.59 SGCB CAV3
17 nucleus localization GO:0051647 9.58 DMD CAV3
18 T-tubule organization GO:0033292 9.58 DYSF CAV3
19 response to denervation involved in regulation of muscle adaptation GO:0014894 9.58 SGCA DMD DAG1
20 skeletal muscle thin filament assembly GO:0030240 9.57 TTN TCAP
21 Schwann cell differentiation GO:0014037 9.56 LAMA2 DAG1
22 skeletal muscle tissue regeneration GO:0043403 9.56 SGCA DYSF DMD DAG1
23 self proteolysis GO:0097264 9.55 CAPN3 CAPN1
24 skeletal muscle myosin thick filament assembly GO:0030241 9.54 TTN TCAP
25 regulation of skeletal muscle contraction GO:0014819 9.52 DMD CAV3
26 sarcomerogenesis GO:0048769 9.48 TTN TCAP
27 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
28 muscle cell cellular homeostasis GO:0046716 9.26 TRIM32 DMD CAV3 CAPN3
29 muscle organ development GO:0007517 9.23 SGCG SGCD SGCB SGCA LAMA2 DMD

Molecular functions related to Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.73 TTN SGCA DYSF DAG1 CAPN3 CAPN1
2 alpha-actinin binding GO:0051393 9.43 MYOT DAG1
3 nitric-oxide synthase binding GO:0050998 9.4 DMD CAV3
4 titin binding GO:0031432 9.37 TCAP CAPN3
5 calcium-dependent cysteine-type endopeptidase activity GO:0004198 9.33 CAPN6 CAPN3 CAPN1
6 vinculin binding GO:0017166 9.32 DMD DAG1
7 dystroglycan binding GO:0002162 9.13 FKRP DMD DAG1
8 structural constituent of muscle GO:0008307 9.1 TTN TCAP MYOT DMD DAG1 CAPN3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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