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 60 15
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency 12 60
Primary Calpainopathy 12 60
Lgmd2a 12 60
Muscular Dystrophy, Limb-Girdle, Type 2a 12
Leyden-Moebius Muscular Dystrophy 12
Pelvofemoral Muscular Dystrophy 12

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive limb-girdle muscular dystrophy type 2a
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110275
ICD10 34 G71.0
ICD10 via Orphanet 35 G71.0
UMLS via Orphanet 75 C1869123
Orphanet 60 ORPHA267

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 Allograft rejection and Arrhythmogenic right ventricular cardiomyopathy (ARVC). Related phenotypes are generalized muscle weakness and hyperlordosis

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 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 Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 45)
# Related Disease Score Top Affiliating Genes
1 dysferlinopathy 30.4 CAPN3 DYSF
2 miyoshi muscular dystrophy 29.1 CAPN3 CAV3 DYSF MYOT TTN
3 myopathy 29.1 CAPN3 CAV3 DYSF MYOT TTN
4 muscular dystrophy 27.4 CAPN3 CAV3 DYSF FKRP MYOT SGCA
5 limb-girdle muscular dystrophy 27.4 CAPN3 CAV3 DYSF FKRP MYOT SGCA
6 muscular dystrophy limb girdle type 2a, erb type 12.6
7 muscular dystrophy, limb-girdle, autosomal recessive 1 11.9
8 bethlem myopathy 1 10.2 CAPN3 DYSF
9 tibial muscular dystrophy 10.1 CAPN3 TTN
10 muscular dystrophy, becker type 10.1 DYSF SGCA
11 myopathy, myofibrillar, 3 10.1 MYOT TTN
12 paresthesia 10.1 CAPN3 FKRP
13 myopathy, spheroid body 10.1 MYOT TTN
14 polyglucosan body myopathy 1 with or without immunodeficiency 10.1 CAPN3 FKRP
15 cardiomyopathy, dilated, 3b 10.1 SGCA SGCD
16 rigid spine muscular dystrophy 1 10.0 DYSF TTN
17 autosomal dominant limb-girdle muscular dystrophy 10.0 CAV3 MYOT
18 myositis 10.0 CAPN3 DYSF TTN
19 familial isolated dilated cardiomyopathy 9.9 SGCD TTN
20 muscle eye brain disease 9.9 FKRP SGCA
21 autosomal recessive limb-girdle muscular dystrophy type 2l 9.8 DYSF FKRP SGCB
22 muscular dystrophy, congenital, lmna-related 9.8 FKRP TTN
23 myofibrillar myopathy 9.8 MYOT TTN
24 atrial standstill 1 9.8 FKRP MYOT TTN
25 muscular dystrophy-dystroglycanopathy , type b, 5 9.7 CAV3 FKRP
26 muscular dystrophy, limb-girdle, autosomal dominant 1 9.7 CAV3 MYOT SGCB
27 isolated hyperckemia 9.6 CAPN3 CAV3 FKRP
28 autosomal recessive limb-girdle muscular dystrophy type 2g 9.6 CAPN3 DYSF MYOT SGCB SGCG
29 muscular dystrophy, limb-girdle, autosomal recessive 8 9.6 CAPN3 DYSF FKRP TTN
30 muscular dystrophy-dystroglycanopathy , type c, 5 9.6 CAPN3 DYSF FKRP TTN
31 cardiomyopathy, familial hypertrophic, 1 9.6 CAV3 TTN
32 hypertrophic cardiomyopathy 9.5 CAV3 SGCD TTN
33 autosomal recessive limb-girdle muscular dystrophy type 2h 9.5 CAPN3 FKRP MYOT SGCB SGCG
34 muscular dystrophy, limb-girdle, autosomal recessive 7 9.5 CAPN3 DYSF FKRP MYOT TTN
35 autosomal recessive limb-girdle muscular dystrophy type 2j 9.4 CAPN3 FKRP MYOT SGCB TTN
36 autosomal recessive limb-girdle muscular dystrophy type 2c 9.3 CAPN3 DYSF SGCA SGCB SGCD SGCG
37 autosomal recessive limb-girdle muscular dystrophy type 2f 9.3 CAPN3 DYSF SGCA SGCB SGCD SGCG
38 autosomal recessive limb-girdle muscular dystrophy type 2b 9.1 CAPN3 CAV3 DYSF SGCA SGCB SGCG
39 dilated cardiomyopathy 9.0 FKRP SGCA SGCB SGCD SGCG TTN
40 autosomal recessive limb-girdle muscular dystrophy type 2d 8.9 CAPN3 DYSF FKRP SGCA SGCB SGCD
41 autosomal recessive limb-girdle muscular dystrophy 8.7 CAPN3 CAV3 DYSF FKRP SGCA SGCD
42 muscular dystrophy, limb-girdle, autosomal recessive 6 8.6 CAPN3 DYSF FKRP SGCA SGCB SGCD
43 muscle tissue disease 8.5 CAPN3 CAV3 DYSF FKRP MYOT SGCA
44 muscular dystrophy, limb-girdle, autosomal recessive 2 8.5 CAPN3 CAV3 DYSF FKRP MYOT SGCA
45 muscular disease 8.0 CAPN3 CAV3 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:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 60 33 hallmark (90%) Very frequent (99-80%) HP:0003324
2 hyperlordosis 60 33 frequent (33%) Frequent (79-30%) HP:0003307
3 elbow flexion contracture 60 33 frequent (33%) Frequent (79-30%) HP:0002987
4 spinal rigidity 60 33 frequent (33%) Frequent (79-30%) HP:0003306
5 scapular winging 60 33 frequent (33%) Frequent (79-30%) HP:0003691
6 toe walking 60 33 frequent (33%) Frequent (79-30%) HP:0040083
7 difficulty walking 60 33 frequent (33%) Frequent (79-30%) HP:0002355
8 proximal muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0003701
9 muscular dystrophy 60 33 frequent (33%) Frequent (79-30%) HP:0003560
10 lower limb muscle weakness 60 33 frequent (33%) Frequent (79-30%) HP:0007340
11 ankle contracture 60 33 frequent (33%) Frequent (79-30%) HP:0006466
12 calf muscle hypertrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008981
13 congenital finger flexion contractures 60 33 frequent (33%) Frequent (79-30%) HP:0005879
14 hamstring contractures 60 33 frequent (33%) Frequent (79-30%) HP:0003089
15 pelvic girdle amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0008946
16 scapular muscle atrophy 60 33 frequent (33%) Frequent (79-30%) HP:0009060
17 pectoralis amyotrophy 60 33 frequent (33%) Frequent (79-30%) HP:0012037
18 elevated serum creatine kinase 33 frequent (33%) HP:0003236
19 wrist flexion contracture 60 33 occasional (7.5%) Occasional (29-5%) HP:0001239
20 difficulty climbing stairs 60 33 occasional (7.5%) Occasional (29-5%) HP:0003551
21 flexion contracture 60 Frequent (79-30%)
22 elevated serum creatine phosphokinase 60 Frequent (79-30%)

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.76 CAPN3 CAV3 FKRP SGCA SGCB SGCD
2 homeostasis/metabolism MP:0005376 9.56 CAPN3 CAV3 DYSF FKRP SGCA SGCD
3 muscle MP:0005369 9.28 CAPN3 CAV3 DYSF FKRP SGCA SGCB

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 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

ClinVar genetic disease variations for Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a:

6 (show top 50) (show all 637)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAPN3 NM_000070.2(CAPN3): c.1699G> T (p.Gly567Trp) single nucleotide variant Pathogenic rs727503839 GRCh37 Chromosome 15, 42695154: 42695154
2 CAPN3 NM_000070.2(CAPN3): c.1699G> T (p.Gly567Trp) single nucleotide variant Pathogenic rs727503839 GRCh38 Chromosome 15, 42402956: 42402956
3 CAPN3 NM_000070.2(CAPN3): c.1468C> T (p.Arg490Trp) single nucleotide variant Pathogenic/Likely pathogenic rs141656719 GRCh37 Chromosome 15, 42693952: 42693952
4 CAPN3 NM_000070.2(CAPN3): c.1468C> T (p.Arg490Trp) single nucleotide variant Pathogenic/Likely pathogenic rs141656719 GRCh38 Chromosome 15, 42401754: 42401754
5 CAPN3 NM_000070.2(CAPN3): c.495C> T (p.Phe165=) single nucleotide variant Benign/Likely benign rs1801324 GRCh37 Chromosome 15, 42678480: 42678480
6 CAPN3 NM_000070.2(CAPN3): c.495C> T (p.Phe165=) single nucleotide variant Benign/Likely benign rs1801324 GRCh38 Chromosome 15, 42386282: 42386282
7 CAPN3 NM_000070.2(CAPN3): c.598_612delTTCTGGAGTGCTCTG (p.Phe200_Leu204del) deletion Pathogenic rs727503837 GRCh37 Chromosome 15, 42680050: 42680064
8 CAPN3 NM_000070.2(CAPN3): c.598_612delTTCTGGAGTGCTCTG (p.Phe200_Leu204del) deletion Pathogenic rs727503837 GRCh38 Chromosome 15, 42387852: 42387866
9 CAPN3 NM_000070.2(CAPN3): c.984C> T (p.Cys328=) single nucleotide variant Benign/Likely benign rs28364441 GRCh37 Chromosome 15, 42684875: 42684875
10 CAPN3 NM_000070.2(CAPN3): c.984C> T (p.Cys328=) single nucleotide variant Benign/Likely benign rs28364441 GRCh38 Chromosome 15, 42392677: 42392677
11 CAPN3 NM_000070.2(CAPN3): c.1116-5A> G single nucleotide variant Benign rs28364467 GRCh37 Chromosome 15, 42688993: 42688993
12 CAPN3 NM_000070.2(CAPN3): c.1116-5A> G single nucleotide variant Benign rs28364467 GRCh38 Chromosome 15, 42396795: 42396795
13 CAPN3 NM_000070.2(CAPN3): c.2380+12delA deletion Benign/Likely benign rs28364538 GRCh37 Chromosome 15, 42703210: 42703210
14 CAPN3 NM_000070.2(CAPN3): c.2380+12delA deletion Benign/Likely benign rs28364538 GRCh38 Chromosome 15, 42411012: 42411012
15 CAPN3 NM_000070.2(CAPN3): c.2433T> C (p.Val811=) single nucleotide variant Conflicting interpretations of pathogenicity rs28364543 GRCh37 Chromosome 15, 42703537: 42703537
16 CAPN3 NM_000070.2(CAPN3): c.2433T> C (p.Val811=) single nucleotide variant Conflicting interpretations of pathogenicity rs28364543 GRCh38 Chromosome 15, 42411339: 42411339
17 CAPN3 NM_000070.2(CAPN3): c.2329A> G (p.Ile777Val) single nucleotide variant Uncertain significance rs149969786 GRCh38 Chromosome 15, 42410949: 42410949
18 CAPN3 NM_000070.2(CAPN3): c.2329A> G (p.Ile777Val) single nucleotide variant Uncertain significance rs149969786 GRCh37 Chromosome 15, 42703147: 42703147
19 CAPN3 NM_000070.2(CAPN3): c.145C> T (p.Arg49Cys) single nucleotide variant Pathogenic/Likely pathogenic rs794726871 GRCh37 Chromosome 15, 42652148: 42652148
20 CAPN3 NM_000070.2(CAPN3): c.145C> T (p.Arg49Cys) single nucleotide variant Pathogenic/Likely pathogenic rs794726871 GRCh38 Chromosome 15, 42359950: 42359950
21 CAPN3 NM_000070.2(CAPN3): c.1477C> T (p.Arg493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs557164942 GRCh37 Chromosome 15, 42693961: 42693961
22 CAPN3 NM_000070.2(CAPN3): c.1477C> T (p.Arg493Trp) single nucleotide variant Pathogenic/Likely pathogenic rs557164942 GRCh38 Chromosome 15, 42401763: 42401763
23 CAPN3 NM_000070.2(CAPN3): c.1981delA (p.Ile661Terfs) deletion Pathogenic rs762471207 GRCh37 Chromosome 15, 42701567: 42701567
24 CAPN3 NM_000070.2(CAPN3): c.1981delA (p.Ile661Terfs) deletion Pathogenic rs762471207 GRCh38 Chromosome 15, 42409369: 42409369
25 CAPN3 NM_000070.2(CAPN3): c.319G> A (p.Glu107Lys) single nucleotide variant Benign/Likely benign rs1801505 GRCh37 Chromosome 15, 42676690: 42676690
26 CAPN3 NM_000070.2(CAPN3): c.319G> A (p.Glu107Lys) single nucleotide variant Benign/Likely benign rs1801505 GRCh38 Chromosome 15, 42384492: 42384492
27 CAPN3 NM_000070.2(CAPN3): c.2134C> T (p.Leu712Phe) single nucleotide variant Likely pathogenic rs794727318 GRCh37 Chromosome 15, 42702644: 42702644
28 CAPN3 NM_000070.2(CAPN3): c.2134C> T (p.Leu712Phe) single nucleotide variant Likely pathogenic rs794727318 GRCh38 Chromosome 15, 42410446: 42410446
29 CAPN3 NM_000070.2(CAPN3): c.2235C> T (p.Tyr745=) single nucleotide variant Conflicting interpretations of pathogenicity rs147774793 GRCh37 Chromosome 15, 42702836: 42702836
30 CAPN3 NM_000070.2(CAPN3): c.2235C> T (p.Tyr745=) single nucleotide variant Conflicting interpretations of pathogenicity rs147774793 GRCh38 Chromosome 15, 42410638: 42410638
31 CAPN3 NM_000070.2(CAPN3): c.2338G> C (p.Asp780His) single nucleotide variant Pathogenic/Likely pathogenic rs778768583 GRCh37 Chromosome 15, 42703156: 42703156
32 CAPN3 NM_000070.2(CAPN3): c.2338G> C (p.Asp780His) single nucleotide variant Pathogenic/Likely pathogenic rs778768583 GRCh38 Chromosome 15, 42410958: 42410958
33 CAPN3 NM_000070.2(CAPN3): c.525C> T (p.Asp175=) single nucleotide variant Conflicting interpretations of pathogenicity rs144383442 GRCh37 Chromosome 15, 42679977: 42679977
34 CAPN3 NM_000070.2(CAPN3): c.525C> T (p.Asp175=) single nucleotide variant Conflicting interpretations of pathogenicity rs144383442 GRCh38 Chromosome 15, 42387779: 42387779
35 CAPN3 NM_000070.2(CAPN3): c.759_761delGAA (p.Lys254del) deletion Pathogenic rs794727697 GRCh37 Chromosome 15, 42681252: 42681254
36 CAPN3 NM_000070.2(CAPN3): c.759_761delGAA (p.Lys254del) deletion Pathogenic rs794727697 GRCh38 Chromosome 15, 42389054: 42389056
37 CAPN3 NM_000070.2(CAPN3): c.795_800delCATTGA (p.Ile266_Asp267del) deletion Likely pathogenic rs869312852 GRCh37 Chromosome 15, 42681288: 42681293
38 CAPN3 NM_000070.2(CAPN3): c.795_800delCATTGA (p.Ile266_Asp267del) deletion Likely pathogenic rs869312852 GRCh38 Chromosome 15, 42389090: 42389095
39 CAPN3 NM_000070.2(CAPN3): c.327_328dupCC (p.Arg110Profs) duplication Pathogenic/Likely pathogenic rs797045427 GRCh37 Chromosome 15, 42676698: 42676699
40 CAPN3 NM_000070.2(CAPN3): c.327_328dupCC (p.Arg110Profs) duplication Pathogenic/Likely pathogenic rs797045427 GRCh38 Chromosome 15, 42384500: 42384501
41 CAPN3 NM_000070.2(CAPN3): c.1557C> T (p.His519=) single nucleotide variant Uncertain significance rs368385372 GRCh37 Chromosome 15, 42695012: 42695012
42 CAPN3 NM_000070.2(CAPN3): c.1557C> T (p.His519=) single nucleotide variant Uncertain significance rs368385372 GRCh38 Chromosome 15, 42402814: 42402814
43 CAPN3 NM_000070.2(CAPN3): c.2390A> G (p.His797Arg) single nucleotide variant Uncertain significance rs766630908 GRCh38 Chromosome 15, 42411296: 42411296
44 CAPN3 NM_000070.2(CAPN3): c.2390A> G (p.His797Arg) single nucleotide variant Uncertain significance rs766630908 GRCh37 Chromosome 15, 42703494: 42703494
45 CAPN3 NM_000070.2(CAPN3): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic/Likely pathogenic rs376107921 GRCh37 Chromosome 15, 42691815: 42691815
46 CAPN3 NM_000070.2(CAPN3): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic/Likely pathogenic rs376107921 GRCh38 Chromosome 15, 42399617: 42399617
47 CAPN3 NM_000070.2(CAPN3): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774048743 GRCh37 Chromosome 15, 42652136: 42652136
48 CAPN3 NM_000070.2(CAPN3): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic/Likely pathogenic rs774048743 GRCh38 Chromosome 15, 42359938: 42359938
49 CAPN3 NM_000070.2(CAPN3): c.146G> A (p.Arg49His) single nucleotide variant Likely pathogenic rs863224958 GRCh38 Chromosome 15, 42359951: 42359951
50 CAPN3 NM_000070.2(CAPN3): c.146G> A (p.Arg49His) single nucleotide variant Likely pathogenic rs863224958 GRCh37 Chromosome 15, 42652149: 42652149

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

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 cytoskeleton GO:0005856 9.83 MYOT SGCA SGCB SGCD SGCG
2 Z disc GO:0030018 9.62 CAPN3 CAV3 MYOT TTN
3 sarcoglycan complex GO:0016012 9.56 SGCA SGCB SGCD SGCG
4 T-tubule GO:0030315 9.54 CAPN3 CAV3 DYSF
5 dystroglycan complex GO:0016011 9.46 SGCA SGCB SGCD SGCG
6 dystrophin-associated glycoprotein complex GO:0016010 9.26 CAV3 SGCA SGCB SGCD
7 sarcolemma GO:0042383 9.23 CAV3 DYSF FKRP MYOT SGCA SGCB
8 plasma membrane GO:0005886 10.06 CAPN3 CAV3 DYSF FKRP MYOT SGCA

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 response to calcium ion GO:0051592 9.52 CAPN3 TTN
2 sarcomere organization GO:0045214 9.51 CAPN3 TTN
3 skeletal muscle tissue regeneration GO:0043403 9.49 DYSF SGCA
4 muscle cell cellular homeostasis GO:0046716 9.48 CAPN3 CAV3
5 heart contraction GO:0060047 9.46 SGCD SGCG
6 muscle fiber development GO:0048747 9.43 DYSF SGCB
7 regulation of calcium ion import GO:0090279 9.4 CAV3 DYSF
8 cardiac muscle cell development GO:0055013 9.37 CAV3 SGCB
9 muscle contraction GO:0006936 9.35 CAV3 DYSF MYOT SGCA TTN
10 plasma membrane repair GO:0001778 9.32 CAV3 DYSF
11 T-tubule organization GO:0033292 9.26 CAV3 DYSF
12 detection of muscle stretch GO:0035995 9.16 CAV3 TTN
13 muscle organ development GO:0007517 9.1 CAPN3 CAV3 SGCA SGCB SGCD 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 9.46 CAPN3 DYSF SGCA TTN
2 protein-containing complex scaffold activity GO:0032947 9.26 CAPN3 CAV3
3 alpha-tubulin binding GO:0043014 8.96 CAV3 DYSF
4 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 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
Content
Loading form....