MCID: ATS279
MIFTS: 33

Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a

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



External Ids:

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 muscle hypertrophy. 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. Affiliated tissues include heart, eye and brain, and 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 Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 139)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 30.2 SGCA DYSF CAPN3
2 muscle hypertrophy 29.9 TTN FKRP DMD
3 muscular dystrophy, limb-girdle, autosomal recessive 8 29.8 TTN TCAP FKRP DYSF CAPN3
4 muscular atrophy 29.5 TTN LMNA CAV3 CAPN3
5 muscular dystrophy, limb-girdle, autosomal recessive 4 29.5 TTN TCAP SGCB SGCA FKRP DYSF
6 muscular dystrophy, limb-girdle, autosomal recessive 7 29.4 TTN TCAP MYOT FKRP DYSF DMD
7 muscular dystrophy, limb-girdle, autosomal recessive 6 28.8 TTN TCAP SGCG SGCD SGCB SGCA
8 facioscapulohumeral muscular dystrophy 1 28.8 SGCG SGCA MYOT LMNA FKRP DYSF
9 limb-girdle muscular dystrophy 28.8 TTN TCAP SGCG SGCD SGCB SGCA
10 muscular dystrophy, duchenne type 28.5 TTN TCAP SGCD SGCB SGCA LAMA2
11 muscular dystrophy-dystroglycanopathy , type c, 5 28.3 TTN TCAP SGCG SGCD SGCB SGCA
12 emery-dreifuss muscular dystrophy 28.2 TTN SGCG SGCA MYOT LMNA LAMA2
13 bethlem myopathy 1 27.7 SGCG SGCD SGCA MYOT LMNA LAMA2
14 miyoshi muscular dystrophy 27.6 TTN TCAP SGCG SGCD SGCB SGCA
15 muscular dystrophy 27.5 TTN TCAP SGCG SGCD SGCB SGCA
16 muscular dystrophy, limb-girdle, autosomal recessive 2 27.1 TTN TCAP SGCG SGCD SGCB SGCA
17 myopathy 26.7 TTN TCAP SGCG SGCD SGCB SGCA
18 autosomal recessive limb-girdle muscular dystrophy 26.6 TTN TCAP SGCG SGCD SGCB SGCA
19 muscular dystrophy, limb-girdle, autosomal recessive 1 11.8
20 calpain-3-related limb-girdle muscular dystrophy r1 11.6
21 muscular dystrophy limb girdle type 2a, erb type 11.5
22 muscular dystrophy, limb-girdle, autosomal recessive 25 10.9
23 paresthesia 10.4 FKRP CAPN3
24 localized lipodystrophy 10.3 DYSF DMD
25 muscular dystrophy, limb-girdle, type 1h 10.3 MYOT CAV3
26 foot drop 10.3 TTN MYOT DYSF
27 progressive muscular dystrophy 10.3 SGCA DMD
28 cardioneuromyopathy with hyaline masses and nemaline rods 10.3 TTN DMD
29 miyoshi muscular dystrophy 3 10.2 DYSF CAPN3 ANO5
30 limb-girdle muscular dystrophy type 1c 10.2 FKRP DYSF CAV3
31 congenital muscular dystrophy-dystroglycanopathy type a5 10.2 FKRP DAG1
32 autosomal recessive limb-girdle muscular dystrophy type 2w 10.2 SGCB MYOT ANO5
33 congenital muscular dystrophy-dystroglycanopathy type a1 10.2 FKRP DAG1
34 muscular dystrophy, limb-girdle, autosomal dominant 3 10.2 MYOT CAV3
35 polyglucosan body myopathy 1 with or without immunodeficiency 10.2 FKRP DMD CAPN3
36 mcleod syndrome 10.2 SGCA DMD
37 reducing body myopathy 10.2 TTN DMD
38 autosomal dominant distal myopathy 10.2 TTN MYOT DMD
39 muscular dystrophy-dystroglycanopathy , type c, 9 10.2 SGCB MYOT DAG1
40 muscular dystrophy, limb-girdle, autosomal dominant 1 10.2 MYOT DYSF CAV3 CAPN3
41 muscular dystrophy-dystroglycanopathy , type c, 14 10.1 DAG1 ANO5
42 autosomal recessive limb-girdle muscular dystrophy type 2q 10.1 TCAP SGCA MYOT ANO5
43 cobblestone lissencephaly 10.1 FKRP DMD DAG1
44 autosomal recessive limb-girdle muscular dystrophy type 2x 10.1 MYOT DYSF CAV3 ANO5
45 congenital muscular dystrophy-dystroglycanopathy a14 10.1 LAMA2 DAG1
46 muscular dystrophy-dystroglycanopathy , type b, 6 10.1 FKRP DAG1
47 autosomal recessive disease 10.1
48 myositis 10.1 TTN DYSF DMD CAPN3
49 muscular dystrophy-dystroglycanopathy , type c, 2 10.1 FKRP DAG1 CAPN3 ANO5
50 muscular dystrophy, congenital, 1b 10.0 LAMA2 FKRP DAG1

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 10.23 CAPN3
2 Decreased viability GR00055-A-2 10.23 CAPN3
3 Decreased viability GR00055-A-3 10.23 CAPN3
4 Decreased viability GR00221-A-2 10.23 TTN
5 Decreased viability GR00221-A-4 10.23 DYSF TTN
6 Decreased viability GR00240-S-1 10.23 LMNA TCAP
7 Decreased viability GR00249-S 10.23 DAG1 LMNA SGCA TCAP
8 Decreased viability GR00301-A 10.23 DYSF
9 Decreased viability GR00342-S-1 10.23 TTN
10 Decreased viability GR00342-S-3 10.23 TTN
11 Decreased viability GR00381-A-1 10.23 FKRP LAMA2 SGCA
12 Decreased viability GR00386-A-1 10.23 DAG1 LMNA
13 Decreased viability GR00402-S-2 10.23 DMD SGCA SGCB TCAP
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.31 ANO5 CAPN1 CAPN3 CAST CAV3 DAG1
2 behavior/neurological MP:0005386 10.25 ANO5 CAST DAG1 DMD DYSF FKRP
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 10.13 ANO5 CAPN3 CAPN6 CAV3 DAG1 DMD
6 immune system MP:0005387 9.93 ANO5 CAPN1 CAST CAV3 DMD DYSF
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

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

40
Heart, Eye, Brain

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
12.65 LAMA2 FLNC CAV3 CAPN6 CAPN3 CAPN1
2
Show member pathways
12.61 SGCG SGCD SGCB SGCA LAMA2 DMD
3
Show member pathways
12.6 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 11.74 SGCG SGCD SGCB SGCA LMNA LAMA2
7
Show member pathways
11.55 TTN SGCG SGCD SGCB SGCA LMNA
8 11.49 TTN TCAP DMD
9
Show member pathways
11.27 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 12)
# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.4 TTN SGCG SGCD SGCB SGCA MYOT
2 cytoplasm GO:0005737 10.36 TTN TCAP SGCG SGCD SGCB SGCA
3 plasma membrane GO:0005886 10.24 TTN SGCG SGCD SGCB SGCA MYOT
4 cytoskeleton GO:0005856 10.06 SGCG SGCD SGCB SGCA MYOT FLNC
5 membrane raft GO:0045121 9.81 SGCA DMD DAG1 CAV3
6 Z disc GO:0030018 9.7 TTN TCAP MYOT FLNC DMD CAV3
7 T-tubule GO:0030315 9.65 DYSF CAV3 CAPN3
8 costamere GO:0043034 9.61 FLNC DMD DAG1
9 sarcoglycan complex GO:0016012 9.56 SGCG SGCD SGCB SGCA
10 dystroglycan complex GO:0016011 9.5 SGCB SGCA DAG1
11 dystrophin-associated glycoprotein complex GO:0016010 9.43 SGCD SGCB SGCA DMD DAG1 CAV3
12 sarcolemma GO:0042383 9.4 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 27)
# Name GO ID Score Top Affiliating Genes
1 cardiac muscle contraction GO:0060048 9.7 TTN TCAP DMD
2 muscle filament sliding GO:0030049 9.67 TTN TCAP DMD
3 sarcomere organization GO:0045214 9.65 TTN TCAP CAPN3
4 cardiac muscle tissue development GO:0048738 9.63 SGCG SGCD
5 response to muscle stretch GO:0035994 9.63 TCAP DMD
6 heart contraction GO:0060047 9.62 SGCG SGCD
7 plasma membrane repair GO:0001778 9.62 DYSF CAV3
8 cardiac muscle tissue morphogenesis GO:0055008 9.61 TTN TCAP
9 cardiac myofibril assembly GO:0055003 9.61 TTN TCAP
10 cardiac muscle hypertrophy GO:0003300 9.6 TTN TCAP
11 cardiac muscle cell development GO:0055013 9.59 SGCB CAV3
12 T-tubule organization GO:0033292 9.58 DYSF CAV3
13 Schwann cell differentiation GO:0014037 9.58 LAMA2 DAG1
14 skeletal muscle tissue regeneration GO:0043403 9.58 SGCA DMD DAG1
15 self proteolysis GO:0097264 9.57 CAPN3 CAPN1
16 cardiac muscle fiber development GO:0048739 9.56 TTN TCAP
17 nucleus localization GO:0051647 9.55 DMD CAV3
18 skeletal muscle thin filament assembly GO:0030240 9.54 TTN TCAP
19 muscle cell cellular homeostasis GO:0046716 9.54 DMD CAV3 CAPN3
20 regulation of skeletal muscle contraction GO:0014819 9.51 DMD CAV3
21 muscle fiber development GO:0048747 9.5 SGCB FLNC DMD
22 sarcomerogenesis GO:0048769 9.46 TTN TCAP
23 skeletal muscle myosin thick filament assembly GO:0030241 9.43 TTN TCAP
24 response to denervation involved in regulation of muscle adaptation GO:0014894 9.43 SGCA DMD DAG1
25 muscle contraction GO:0006936 9.35 TTN SGCA MYOT DYSF CAV3
26 detection of muscle stretch GO:0035995 9.33 TTN TCAP CAV3
27 muscle organ development GO:0007517 9.28 SGCG SGCD SGCB SGCA LMNA LAMA2

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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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