MCID: CLP009
MIFTS: 31

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 limb-girdle muscular dystrophy. An important gene associated with Calpain-3-Related Limb-Girdle Muscular Dystrophy R1 is CAPN3 (Calpain 3). Related phenotypes are generalized muscle weakness and elevated serum creatine kinase

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 40)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal recessive 1 12.4
2 limb-girdle muscular dystrophy 11.7
3 muscular dystrophy, limb-girdle, autosomal recessive 25 11.2
4 autosomal recessive limb-girdle muscular dystrophy type 2a 11.2
5 muscular dystrophy 10.8
6 cyanosis, transient neonatal 10.5
7 cardiac arrest 10.5
8 respiratory failure 10.5
9 neuromuscular disease 10.5
10 myopathy 10.4
11 atrial standstill 1 10.3
12 muscular dystrophy, becker type 10.3
13 sensory peripheral neuropathy 10.3
14 neuropathy 10.3
15 autosomal recessive disease 10.3
16 facioscapulohumeral muscular dystrophy 1 10.2
17 muscular dystrophy, limb-girdle, autosomal recessive 2 10.2
18 muscular dystrophy-dystroglycanopathy , type c, 5 10.2
19 autosomal recessive limb-girdle muscular dystrophy 10.2
20 muscular atrophy 10.2
21 progressive familial heart block, type ia 10.0
22 bethlem myopathy 1 10.0
23 facioscapulohumeral muscular dystrophy 2 10.0
24 muscular dystrophy, limb-girdle, autosomal recessive 5 10.0
25 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0
26 muscular dystrophy, duchenne type 10.0
27 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0
28 autoimmune lymphoproliferative syndrome 10.0
29 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0
30 muscular dystrophy, limb-girdle, autosomal recessive 4 10.0
31 progressive familial heart block, type ib 10.0
32 myopathy, proximal, with ophthalmoplegia 10.0
33 muscular dystrophy, limb-girdle, autosomal recessive 3 10.0
34 muscle hypertrophy 10.0
35 miyoshi muscular dystrophy 10.0
36 emery-dreifuss muscular dystrophy 10.0
37 right bundle branch block 10.0
38 dysferlinopathy 10.0
39 cerebral atrophy 10.0
40 qualitative or quantitative defects of dysferlin 10.0

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 elevated serum creatine kinase 58 31 frequent (33%) Frequent (79-30%) HP:0003236
3 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
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
2 Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy Active, not recruiting NCT02897921

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 15)
# 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
Calpainopathy 6
20301490 2005
4
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. 6
15725583 2005
5
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. 6
14981715 2004
6
Limb-Girdle Muscular Dystrophy Overview – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301582 2000
7
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
8
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). 6
9762961 1998
9
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
10
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 6
9150160 1997
11
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 6
7720071 1995
12
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 61
21204801 2011
13
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 61
18854869 2009
14
Sarcolemmal neuronal nitric oxide synthase defect in limb-girdle muscular dystrophy: an adverse modulating factor in the disease course? 61
19287313 2009
15
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:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CAPN3 NC_000015.10:g.(?_42359500)_(42412317_?)deldeletion Pathogenic 468637 15:42651698-42704515 15:42359500-42412317
2 CAPN3 NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)SNV Pathogenic 441261 rs1555420475 15:42679970-42679970 15:42387772-42387772
3 CAPN3 NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)SNV Pathogenic 497182 rs766334893 15:42684918-42684918 15:42392720-42392720
4 CAPN3 NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)SNV Pathogenic 497833 rs1555421523 15:42689000-42689000 15:42396802-42396802
5 CAPN3 NM_000070.3(CAPN3):c.1524+1G>ASNV Pathogenic 536512 rs1275289254 15:42694009-42694009 15:42401811-42401811
6 CAPN3 NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)indel Pathogenic 536516 rs1555420642 15:42681220-42681223 15:42389022-42389025
7 CAPN3 NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu)SNV Pathogenic 548137 rs758058910 15:42652294-42652294 15:42360096-42360096
8 CAPN3 NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly)SNV Pathogenic 548138 rs768090444 15:42702843-42702843 15:42410645-42410645
9 CAPN3 NM_000070.3(CAPN3):c.1838del (p.Lys613fs)deletion Pathogenic 554906 rs1555422832 15:42700445-42700445 15:42408247-42408247
10 CAPN3 NM_000070.3(CAPN3):c.1524+1G>TSNV Pathogenic 554341 rs1275289254 15:42694009-42694009 15:42401811-42401811
11 CAPN3 NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs)deletion Pathogenic 552945 rs764086484 15:42703130-42703133 15:42410932-42410935
12 CAPN3 NM_000070.3(CAPN3):c.2050+1G>ASNV Pathogenic 553754 rs768374736 15:42702043-42702043 15:42409845-42409845
13 CAPN3 NM_000070.3(CAPN3):c.2065_2066AC[2] (p.His690fs)short repeat Pathogenic 551927 rs1555423046 15:42702143-42702144 15:42409945-42409946
14 CAPN3 NM_000070.3(CAPN3):c.801+1G>ASNV Pathogenic 552843 rs1459288402 15:42681295-42681295 15:42389097-42389097
15 CAPN3 NM_000070.3(CAPN3):c.1079G>A (p.Trp360Ter)SNV Pathogenic 550578 rs1555421280 15:42686503-42686503 15:42394305-42394305
16 CAPN3 NM_000070.3(CAPN3):c.1771del (p.Asp591fs)deletion Pathogenic 578891 rs754761503 15:42695963-42695963 15:42403765-42403765
17 CAPN3 NM_000070.3(CAPN3):c.967G>T (p.Glu323Ter)SNV Pathogenic 620114 rs750443041 15:42684858-42684858 15:42392660-42392660
18 CAPN3 NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter)duplication Pathogenic 653660 15:42679960-42679961 15:42387762-42387763
19 CAPN3 NC_000015.10:g.(?_42359796)_(42399662_?)deldeletion Pathogenic 647946 15:42651994-42691860 15:42359796-42399662
20 CAPN3 NC_000015.10:g.(?_42359796)_(42411783_?)deldeletion Pathogenic 655755 15:42651994-42703981 15:42359796-42411783
21 CAPN3 NC_000015.10:g.(?_42389933)_(42411793_?)deldeletion Pathogenic 650702 15:42682131-42703991 15:42389933-42411793
22 CAPN3 NC_000015.10:g.(?_42394246)_(42394351_?)deldeletion Pathogenic 648523 15:42686444-42686549 15:42394246-42394351
23 CAPN3 NM_000070.3(CAPN3):c.946-2A>GSNV Pathogenic 663747 15:42684835-42684835 15:42392637-42392637
24 CAPN3 NM_000070.3(CAPN3):c.1576del (p.Leu526fs)deletion Pathogenic 655955 15:42695030-42695030 15:42402832-42402832
25 CAPN3 NM_000070.3(CAPN3):c.1933del (p.Asp645fs)deletion Pathogenic 663070 15:42701519-42701519 15:42409321-42409321
26 CAPN3 NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs)deletion Pathogenic 659272 15:42702628-42702631 15:42410430-42410433
27 CAPN3 NC_000015.10:g.(?_42359796)_(42360124_?)deldeletion Pathogenic 640989 15:42651994-42652322 15:42359796-42360124
28 CAPN3 NM_000070.3(CAPN3):c.1106G>A (p.Trp369Ter)SNV Pathogenic 813987 15:42686530-42686530 15:42394332-42394332
29 CAPN3 NC_000015.10:g.(?_42384473)_(42390106_?)deldeletion Pathogenic 833365 15:42676671-42682304
30 CAPN3 NC_000015.10:g.(?_42384473)_(42392732_?)deldeletion Pathogenic 832061 15:42676671-42684930
31 CAPN3 NC_000015.10:g.(?_42384473)_(42394351_?)deldeletion Pathogenic 832313 15:42676671-42686549
32 CAPN3 NC_000015.10:g.(?_42396790)_(42404849_?)deldeletion Pathogenic 832060 15:42688988-42697047
33 CAPN3 NM_000070.3(CAPN3):c.100del (p.Ala34fs)deletion Pathogenic 861571 15:42652102-42652102 15:42359904-42359904
34 CAPN3 NM_000070.3(CAPN3):c.444del (p.Ile149fs)deletion Pathogenic 837974 15:42678429-42678429 15:42386231-42386231
35 CAPN3 NM_000070.3(CAPN3):c.519G>A (p.Trp173Ter)SNV Pathogenic 843556 15:42679971-42679971 15:42387773-42387773
36 CAPN3 NM_000070.3(CAPN3):c.562del (p.Gln188fs)deletion Pathogenic 859768 15:42680014-42680014 15:42387816-42387816
37 CAPN3 NM_000070.3(CAPN3):c.2162G>A (p.Trp721Ter)SNV Pathogenic 849826 15:42702672-42702672 15:42410474-42410474
38 CAPN3 NM_000070.3(CAPN3):c.2230del (p.Ser744fs)deletion Pathogenic 864339 15:42702831-42702831 15:42410633-42410633
39 CAPN3 NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs)duplication Pathogenic 837037 15:42703132-42703133 15:42410934-42410935
40 CAPN3 NM_000070.3(CAPN3):c.796del (p.Ile266fs)deletion Pathogenic 850654 15:42681289-42681289 15:42389091-42389091
41 CAPN3 NM_000070.3(CAPN3):c.806del (p.Gly269fs)deletion Pathogenic 845509 15:42682154-42682154 15:42389956-42389956
42 CAPN3 NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)SNV Pathogenic 17613 rs80338802 15:42703124-42703124 15:42410926-42410926
43 CAPN3 NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)SNV Pathogenic 17614 rs121434544 15:42695170-42695170 15:42402972-42402972
44 CAPN3 NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)SNV Pathogenic 17615 rs121434545 15:42676699-42676699 15:42384501-42384501
45 CAPN3 NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)SNV Pathogenic 17616 rs121434546 15:42652260-42652260 15:42360062-42360062
46 CAPN3 NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)indel Pathogenic 17618 rs1555423217 15:42703180-42703181 15:42410982-42410983
47 CAPN3 NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)SNV Pathogenic 17619 rs267606703 15:42686504-42686504 15:42394306-42394306
48 CAPN3 NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)duplication Pathogenic 17620 rs80338803 15:42698129-42698130 15:42405931-42405932
49 CAPN3 NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
50 CAPN3 NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)SNV Pathogenic 17622 rs121434548 15:42693953-42693953 15:42401755-42401755

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

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