MCID: ATS279
MIFTS: 39

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:



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 miyoshi 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 Arrhythmogenic right ventricular cardiomyopathy (ARVC) and Dilated cardiomyopathy (DCM). Affiliated tissues include brain and eye, and related phenotypes are hyperlordosis and elevated serum creatine phosphokinase

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 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 47)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 30.2 CAPN3 DYSF
2 miyoshi muscular dystrophy 29.6 CAPN3 DYSF MYOT TTN
3 myopathy 29.6 CAPN3 DYSF MYOT TTN
4 limb-girdle muscular dystrophy 28.6 CAPN3 DNAJB6 DYSF FKRP MYOT SGCA
5 muscular dystrophy 28.6 CAPN3 DNAJB6 DYSF FKRP MYOT SGCA
6 muscular dystrophy limb girdle type 2a, erb type 12.5
7 muscular dystrophy, limb-girdle, autosomal recessive 1 11.6
8 bethlem myopathy 1 10.1 CAPN3 DYSF
9 muscular dystrophy, becker type 10.1 DYSF SGCA
10 paresthesia 10.1 CAPN3 FKRP
11 tibial muscular dystrophy 10.1 CAPN3 TTN
12 polyglucosan body myopathy 1 with or without immunodeficiency 10.0 CAPN3 FKRP
13 isolated hyperckemia 10.0 CAPN3 FKRP
14 rigid spine muscular dystrophy 1 10.0 DYSF TTN
15 myositis 10.0 CAPN3 DYSF TTN
16 autosomal dominant limb-girdle muscular dystrophy 9.9 DNAJB6 MYOT
17 muscle eye brain disease 9.9 FKRP SGCA
18 autosomal recessive limb-girdle muscular dystrophy type 2l 9.9 DYSF FKRP SGCB
19 muscular dystrophy, limb-girdle, type 1h 9.9 DNAJB6 MYOT
20 autosomal recessive limb-girdle muscular dystrophy type 2q 9.9 DNAJB6 MYOT
21 autosomal dominant limb-girdle muscular dystrophy type 1g 9.9 DNAJB6 MYOT
22 autosomal dominant limb-girdle muscular dystrophy type 1c 9.9 DNAJB6 DYSF FKRP
23 muscular dystrophy, congenital, lmna-related 9.8 FKRP TTN
24 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8 CAPN3 DYSF FKRP TTN
25 autosomal dominant limb-girdle muscular dystrophy type 1a 9.8 CAPN3 FKRP MYOT
26 muscular dystrophy-dystroglycanopathy , type c, 5 9.8 CAPN3 DYSF FKRP TTN
27 autosomal dominant limb-girdle muscular dystrophy type 1f 9.8 DNAJB6 MYOT SGCB
28 muscular dystrophy, limb-girdle, autosomal dominant 1 9.7 DNAJB6 MYOT SGCB
29 autosomal recessive limb-girdle muscular dystrophy type 2f 9.7 CAPN3 DYSF SGCA SGCB SGCG
30 autosomal recessive limb-girdle muscular dystrophy type 2c 9.7 CAPN3 DYSF SGCA SGCB SGCG
31 autosomal recessive limb-girdle muscular dystrophy type 2b 9.7 CAPN3 DYSF SGCA SGCB SGCG
32 myopathy, myofibrillar, 3 9.7 DNAJB6 MYOT TTN
33 myopathy, spheroid body 9.7 DNAJB6 MYOT TTN
34 myofibrillar myopathy 9.7 DNAJB6 MYOT TTN
35 autosomal recessive limb-girdle muscular dystrophy 9.7 CAPN3 DYSF FKRP SGCA SGCG
36 neuromuscular disease 9.7 MYOT TTN
37 atrial standstill 1 9.7 FKRP MYOT TTN
38 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF MYOT SGCB SGCG
39 dilated cardiomyopathy 9.5 FKRP SGCA SGCB SGCG TTN
40 autosomal recessive limb-girdle muscular dystrophy type 2d 9.5 CAPN3 DYSF FKRP SGCA SGCB SGCG
41 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 FKRP MYOT SGCB SGCG
42 muscular dystrophy, limb-girdle, autosomal recessive 7 9.5 CAPN3 DYSF FKRP MYOT TTN
43 autosomal recessive limb-girdle muscular dystrophy type 2j 9.4 CAPN3 FKRP MYOT SGCB TTN
44 muscle tissue disease 9.4 CAPN3 DYSF FKRP MYOT SGCA SGCG
45 muscular dystrophy, limb-girdle, autosomal recessive 6 9.3 CAPN3 DYSF FKRP SGCA SGCB SGCG
46 muscular dystrophy, limb-girdle, autosomal recessive 2 9.1 CAPN3 DYSF FKRP MYOT SGCA SGCB
47 muscular disease 8.8 CAPN3 DNAJB6 DYSF FKRP MYOT SGCA

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

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

32 (show all 20)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 32 frequent (33%) HP:0003307
2 elevated serum creatine phosphokinase 32 frequent (33%) HP:0003236
3 generalized muscle weakness 32 hallmark (90%) HP:0003324
4 elbow flexion contracture 32 frequent (33%) HP:0002987
5 spinal rigidity 32 frequent (33%) HP:0003306
6 scapular winging 32 frequent (33%) HP:0003691
7 toe walking 32 frequent (33%) HP:0040083
8 difficulty walking 32 frequent (33%) HP:0002355
9 proximal muscle weakness 32 frequent (33%) HP:0003701
10 wrist flexion contracture 32 occasional (7.5%) HP:0001239
11 muscular dystrophy 32 frequent (33%) HP:0003560
12 lower limb muscle weakness 32 frequent (33%) HP:0007340
13 ankle contracture 32 frequent (33%) HP:0006466
14 difficulty climbing stairs 32 occasional (7.5%) HP:0003551
15 calf muscle hypertrophy 32 frequent (33%) HP:0008981
16 congenital finger flexion contractures 32 frequent (33%) HP:0005879
17 hamstring contractures 32 frequent (33%) HP:0003089
18 pelvic girdle amyotrophy 32 frequent (33%) HP:0008946
19 scapular muscle atrophy 32 frequent (33%) HP:0009060
20 pectoralis amyotrophy 32 frequent (33%) HP:0012037

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 9.43 CAPN3 FKRP SGCA SGCB SGCG TTN
2 muscle MP:0005369 9.17 CAPN3 DYSF FKRP SGCA SGCB SGCG

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:

41
Brain, Eye

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

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

# Title Authors Year
1
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? ( 21204801 )
2011

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
11.66 CAPN3 SGCA SGCB SGCG
2
Show member pathways
11.16 SGCA SGCB SGCG TTN

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:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.95 CAPN3 DYSF FKRP MYOT SGCA SGCB
2 Z disc GO:0030018 9.62 CAPN3 DNAJB6 MYOT TTN
3 dystrophin-associated glycoprotein complex GO:0016010 9.43 FKRP SGCA SGCB
4 T-tubule GO:0030315 9.37 CAPN3 DYSF
5 sarcoglycan complex GO:0016012 9.33 SGCA SGCB SGCG
6 dystroglycan complex GO:0016011 9.13 SGCA SGCB SGCG
7 sarcolemma GO:0042383 9.1 DYSF FKRP MYOT SGCA SGCB SGCG

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

# Name GO ID Score Top Affiliating Genes
1 regulation of catalytic activity GO:0050790 9.4 CAPN3 TTN
2 response to calcium ion GO:0051592 9.37 CAPN3 TTN
3 sarcomere organization GO:0045214 9.32 CAPN3 TTN
4 skeletal muscle tissue regeneration GO:0043403 9.26 DYSF SGCA
5 muscle contraction GO:0006936 9.26 DYSF MYOT SGCA TTN
6 muscle fiber development GO:0048747 9.16 DYSF SGCB
7 muscle organ development GO:0007517 8.92 CAPN3 SGCA SGCB SGCG

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 9.26 CAPN3 DYSF SGCA TTN
2 structural constituent of muscle GO:0008307 8.8 CAPN3 MYOT TTN

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

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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