MCID: CLP009
MIFTS: 30

Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Categories: Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

MalaCards integrated aliases for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

Name: Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 58
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 58
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency 58
Limb-Girdle Muscular Dystrophy Type 2a 58
Calpain-3-Related Lgmd R1 58
Primary Calpainopathy 58
Lgmd Type 2a 58
Lgmd2a 58

Characteristics:

Orphanet epidemiological data:

58
calpain-3-related limb-girdle muscular dystrophy r1
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Adolescent,Adult,Childhood; Age of death: normal life expectancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 G71.0
UMLS via Orphanet 72 C1869123
Orphanet 58 ORPHA267

Summaries for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

MalaCards based summary : Calpain-3-Related Limb-Girdle Muscular Dystrophy R1, also known as autosomal recessive limb-girdle muscular dystrophy type 2a, is related to muscular dystrophy, limb-girdle, autosomal recessive 1 and autosomal recessive limb-girdle muscular dystrophy type 2a. An important gene associated with Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 is CAPN3 (Calpain 3). Related phenotypes are generalized muscle weakness and hyperlordosis

Related Diseases for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Diseases in the Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 family:

Calpain-3-Related Limb-Girdle Muscular Dystrophy D4

Diseases related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 11.6
2 autosomal recessive limb-girdle muscular dystrophy type 2a 10.9
3 muscular dystrophy, limb-girdle, autosomal recessive 25 10.9
4 muscular dystrophy 10.6
5 limb-girdle muscular dystrophy 10.6
6 neuromuscular disease 10.5
7 cyanosis, transient neonatal 10.4
8 cardiac arrest 10.4
9 respiratory failure 10.4
10 atrial standstill 1 10.3
11 muscular dystrophy, becker type 10.3
12 sensory peripheral neuropathy 10.3
13 neuropathy 10.3
14 myopathy 10.3
15 autosomal recessive disease 10.1
16 facioscapulohumeral muscular dystrophy 1 10.0
17 muscular dystrophy, limb-girdle, autosomal recessive 2 10.0
18 muscular dystrophy-dystroglycanopathy , type c, 5 10.0
19 miyoshi muscular dystrophy 10.0
20 autosomal recessive limb-girdle muscular dystrophy 10.0
21 muscular atrophy 10.0
22 progressive familial heart block, type ia 9.8
23 bethlem myopathy 1 9.8
24 facioscapulohumeral muscular dystrophy 2 9.8
25 muscular dystrophy, limb-girdle, autosomal recessive 5 9.8
26 muscular dystrophy, limb-girdle, autosomal recessive 8 9.8
27 muscular dystrophy, duchenne type 9.8
28 muscular dystrophy, limb-girdle, autosomal recessive 6 9.8
29 autoimmune lymphoproliferative syndrome 9.8
30 muscular dystrophy, limb-girdle, autosomal recessive 7 9.8
31 muscular dystrophy, limb-girdle, autosomal recessive 4 9.8
32 progressive familial heart block, type ib 9.8
33 myopathy, proximal, with ophthalmoplegia 9.8
34 muscular dystrophy, limb-girdle, autosomal recessive 3 9.8
35 muscle hypertrophy 9.8
36 scoliosis 9.8
37 emery-dreifuss muscular dystrophy 9.8
38 right bundle branch block 9.8
39 dysferlinopathy 9.8
40 cerebral atrophy 9.8
41 qualitative or quantitative defects of dysferlin 9.8

Graphical network of the top 20 diseases related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:



Diseases related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Symptoms & Phenotypes for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Human phenotypes related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 generalized muscle weakness 58 31 hallmark (90%) Very frequent (99-80%) HP:0003324
2 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
3 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
4 elbow flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0002987
5 spinal rigidity 58 31 frequent (33%) Frequent (79-30%) HP:0003306
6 scapular winging 58 31 frequent (33%) Frequent (79-30%) HP:0003691
7 toe walking 58 31 frequent (33%) Frequent (79-30%) HP:0040083
8 muscular dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0003560
9 ankle flexion contracture 58 31 frequent (33%) Frequent (79-30%) HP:0006466
10 congenital finger flexion contractures 58 31 frequent (33%) Frequent (79-30%) HP:0005879
11 calf muscle hypertrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008981
12 proximal muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0003701
13 difficulty walking 58 31 frequent (33%) Frequent (79-30%) HP:0002355
14 lower limb muscle weakness 58 31 frequent (33%) Frequent (79-30%) HP:0007340
15 hamstring contractures 58 31 frequent (33%) Frequent (79-30%) HP:0003089
16 pelvic girdle amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008946
17 scapular muscle atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009060
18 pectoralis amyotrophy 58 31 frequent (33%) Frequent (79-30%) HP:0012037
19 wrist flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001239
20 difficulty climbing stairs 58 31 occasional (7.5%) Occasional (29-5%) HP:0003551
21 flexion contracture 58 Frequent (79-30%)

Drugs & Therapeutics for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784

Search NIH Clinical Center for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Genetic Tests for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Anatomical Context for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Publications for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Articles related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

(show all 13)
# Title Authors PMID Year
1
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. 6
17318636 2007
2
CAPN3 mutations in patients with idiopathic eosinophilic myositis. 6
16607617 2006
3
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. 6
15725583 2005
4
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. 6
14981715 2004
5
Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families. 6
9771675 1998
6
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). 6
9762961 1998
7
DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. 6
9246005 1997
8
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 6
9150160 1997
9
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 6
7720071 1995
10
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 61
21204801 2011
11
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 61
18854869 2009
12
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 61
19287313 2009
13
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. 61
16971480 2007

Variations for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

ClinVar genetic disease variations for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

6 (show top 50) (show all 562)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAPN3 NC_000015.10:g.(?_42359500)_(42412317_?)del Deletion Pathogenic 468637 15:42651698-42704515 15:42359500-42412317
2 CAPN3 NC_000015.10:g.(?_42359796)_(42360124_?)del Deletion Pathogenic 640989 15:42651994-42652322 15:42359796-42360124
3 CAPN3 NC_000015.10:g.(?_42359796)_(42399662_?)del Deletion Pathogenic 647946 15:42651994-42691860 15:42359796-42399662
4 CAPN3 NC_000015.10:g.(?_42394246)_(42394351_?)del Deletion Pathogenic 648523 15:42686444-42686549 15:42394246-42394351
5 CAPN3 NC_000015.10:g.(?_42389933)_(42411793_?)del Deletion Pathogenic 650702 15:42682131-42703991 15:42389933-42411793
6 CAPN3 NC_000015.10:g.(?_42359796)_(42411783_?)del Deletion Pathogenic 655755 15:42651994-42703981 15:42359796-42411783
7 CAPN3 NC_000015.10:g.(?_42396790)_(42404849_?)del Deletion Pathogenic 832060 15:42688988-42697047
8 CAPN3 NC_000015.10:g.(?_42384473)_(42392732_?)del Deletion Pathogenic 832061 15:42676671-42684930
9 CAPN3 NC_000015.10:g.(?_42384473)_(42394351_?)del Deletion Pathogenic 832313 15:42676671-42686549
10 CAPN3 NC_000015.10:g.(?_42384473)_(42390106_?)del Deletion Pathogenic 833365 15:42676671-42682304
11 CAPN3 NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln) SNV Pathogenic 17614 rs121434544 15:42695170-42695170 15:42402972-42402972
12 CAPN3 NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter) SNV Pathogenic 17615 rs121434545 15:42676699-42676699 15:42384501-42384501
13 CAPN3 NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe) SNV Pathogenic 17616 rs121434546 15:42652260-42652260 15:42360062-42360062
14 CAPN3 NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs) Indel Pathogenic 17618 rs1555423217 15:42703180-42703181 15:42410982-42410983
15 CAPN3 NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys) SNV Pathogenic 17619 rs267606703 15:42686504-42686504 15:42394306-42394306
16 CAPN3 NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln) SNV Pathogenic 17622 rs121434548 15:42693953-42693953 15:42401755-42401755
17 CAPN3 NM_000070.3(CAPN3):c.946-1G>A SNV Pathogenic 21036 rs80338801 15:42684836-42684836 15:42392638-42392638
18 CAPN3 NM_000070.3(CAPN3):c.756_758GAA[1] (p.Lys254del) Microsatellite Pathogenic 197624 rs794727697 15:42681249-42681251 15:42389051-42389053
19 CAPN3 NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs) Duplication Pathogenic 210563 rs797045427 15:42676695-42676696 15:42384497-42384498
20 CAPN3 NM_000070.3(CAPN3):c.1343G>A (p.Arg448His) SNV Pathogenic 217149 rs863224956 15:42691839-42691839 15:42399641-42399641
21 CAPN3 NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs) Indel Pathogenic 217160 rs863224966 15:42682232-42682235 15:42390034-42390037
22 CAPN3 NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) SNV Pathogenic 217158 rs758795961 15:42680018-42680018 15:42387820-42387820
23 CAPN3 NM_000070.3(CAPN3):c.2338G>C (p.Asp780His) SNV Pathogenic 195641 rs778768583 15:42703156-42703156 15:42410958-42410958
24 CAPN3 NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) SNV Pathogenic 217153 rs863224960 15:42701525-42701525 15:42409327-42409327
25 CAPN3 NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del) Deletion Pathogenic 217159 rs863224965 15:42681133-42681153 15:42388935-42388955
26 CAPN3 NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) SNV Pathogenic 217150 rs863224957 15:42693949-42693949 15:42401751-42401751
27 CAPN3 NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp) SNV Pathogenic 217152 rs863224959 15:42695169-42695169 15:42402971-42402971
28 CAPN3 NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) SNV Pathogenic 280038 rs776043976 15:42691838-42691838 15:42399640-42399640
29 CAPN3 NM_000070.3(CAPN3):c.1043del (p.Gly348fs) Deletion Pathogenic 286813 rs781013226 15:42686466-42686466 15:42394268-42394268
30 CAPN3 NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) SNV Pathogenic 282411 rs868791726 15:42703123-42703123 15:42410925-42410925
31 CAPN3 NM_000070.3(CAPN3):c.1801-1G>A SNV Pathogenic 287890 rs886043752 15:42700408-42700408 15:42408210-42408210
32 CAPN3 NM_000070.3(CAPN3):c.1309C>T (p.Arg437Cys) SNV Pathogenic 285470 rs777483913 15:42691805-42691805 15:42399607-42399607
33 CAPN3 NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs) Microsatellite Pathogenic 282536 rs886042418 15:42702025-42702026 15:42409827-42409828
34 CAPN3 NM_000070.3(CAPN3):c.1322del (p.Gly441fs) Deletion Pathogenic 281062 rs1555421871 15:42691815-42691815 15:42399617-42399617
35 CAPN3 NM_000070.3(CAPN3):c.2263+1G>A SNV Pathogenic 290519 rs886044475 15:42702865-42702865 15:42410667-42410667
36 CAPN3 NM_000070.3(CAPN3):c.2051-1G>T SNV Pathogenic 281184 rs886042108 15:42702128-42702128 15:42409930-42409930
37 CAPN3 NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter) SNV Pathogenic 441261 rs1555420475 15:42679970-42679970 15:42387772-42387772
38 CAPN3 NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter) SNV Pathogenic 497182 rs766334893 15:42684918-42684918 15:42392720-42392720
39 CAPN3 NM_000070.3(CAPN3):c.1524+1G>A SNV Pathogenic 536512 rs1275289254 15:42694009-42694009 15:42401811-42401811
40 CAPN3 NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs) Indel Pathogenic 536516 rs1555420642 15:42681220-42681223 15:42389022-42389025
41 CAPN3 NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) SNV Pathogenic 548137 rs758058910 15:42652294-42652294 15:42360096-42360096
42 CAPN3 NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly) SNV Pathogenic 548138 rs768090444 15:42702843-42702843 15:42410645-42410645
43 CAPN3 NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter) SNV Pathogenic 550578 rs1555421280 15:42686503-42686503 15:42394305-42394305
44 CAPN3 NM_000070.3(CAPN3):c.2065_2066AC[2] (p.His690fs) Microsatellite Pathogenic 551927 rs1555423046 15:42702143-42702144 15:42409945-42409946
45 CAPN3 NM_000070.3(CAPN3):c.801+1G>A SNV Pathogenic 552843 rs1459288402 15:42681295-42681295 15:42389097-42389097
46 CAPN3 NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) Deletion Pathogenic 552945 rs764086484 15:42703130-42703133 15:42410932-42410935
47 CAPN3 NM_000070.3(CAPN3):c.2050+1G>A SNV Pathogenic 553754 rs768374736 15:42702043-42702043 15:42409845-42409845
48 CAPN3 NM_000070.3(CAPN3):c.1524+1G>T SNV Pathogenic 554341 rs1275289254 15:42694009-42694009 15:42401811-42401811
49 CAPN3 NM_000070.3(CAPN3):c.1838del (p.Lys613fs) Deletion Pathogenic 554906 rs1555422832 15:42700445-42700445 15:42408247-42408247
50 CAPN3 NM_000070.3(CAPN3):c.1771del (p.Asp591fs) Deletion Pathogenic 578891 rs754761503 15:42695963-42695963 15:42403765-42403765

Expression for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Search GEO for disease gene expression data for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1.

Pathways for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

GO Terms for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

Sources for Calpain-3-Related Limb-Girdle Muscular Dystrophy R1

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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