MCID: CLP009
MIFTS: 26

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
Primary Calpainopathy 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). Affiliated tissues include heart, and related phenotypes are hyperlordosis and flexion contracture

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 33)
# 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 10.7
6 myopathy 10.4
7 autosomal recessive disease 10.3
8 facioscapulohumeral muscular dystrophy 1 10.2
9 muscular dystrophy, limb-girdle, autosomal recessive 2 10.2
10 muscular dystrophy-dystroglycanopathy , type c, 5 10.2
11 autosomal recessive limb-girdle muscular dystrophy 10.2
12 muscular atrophy 10.2
13 progressive familial heart block, type ia 10.0
14 bethlem myopathy 1 10.0
15 facioscapulohumeral muscular dystrophy 2 10.0
16 muscular dystrophy, limb-girdle, autosomal recessive 5 10.0
17 muscular dystrophy, limb-girdle, autosomal recessive 8 10.0
18 muscular dystrophy, duchenne type 10.0
19 muscular dystrophy, limb-girdle, autosomal recessive 6 10.0
20 autoimmune lymphoproliferative syndrome 10.0
21 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0
22 muscular dystrophy, limb-girdle, autosomal recessive 4 10.0
23 progressive familial heart block, type ib 10.0
24 myopathy, proximal, and ophthalmoplegia 10.0
25 muscular dystrophy, limb-girdle, autosomal recessive 3 10.0
26 muscle hypertrophy 10.0
27 miyoshi muscular dystrophy 10.0
28 emery-dreifuss muscular dystrophy 10.0
29 right bundle branch block 10.0
30 dysferlinopathy 10.0
31 cerebral atrophy 10.0
32 qualitative or quantitative defects of dysferlin 10.0
33 qualitative or quantitative defects of sarcoglycan 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 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperlordosis 58 Frequent (79-30%)
2 flexion contracture 58 Frequent (79-30%)
3 elevated serum creatine phosphokinase 58 Frequent (79-30%)
4 generalized muscle weakness 58 Very frequent (99-80%)
5 congenital finger flexion contractures 58 Frequent (79-30%)
6 elbow flexion contracture 58 Frequent (79-30%)
7 spinal rigidity 58 Frequent (79-30%)
8 scapular winging 58 Frequent (79-30%)
9 toe walking 58 Frequent (79-30%)
10 difficulty walking 58 Frequent (79-30%)
11 proximal muscle weakness 58 Frequent (79-30%)
12 wrist flexion contracture 58 Occasional (29-5%)
13 muscular dystrophy 58 Frequent (79-30%)
14 lower limb muscle weakness 58 Frequent (79-30%)
15 ankle contracture 58 Frequent (79-30%)
16 difficulty climbing stairs 58 Occasional (29-5%)
17 calf muscle hypertrophy 58 Frequent (79-30%)
18 hamstring contractures 58 Frequent (79-30%)
19 pelvic girdle amyotrophy 58 Frequent (79-30%)
20 scapular muscle atrophy 58 Frequent (79-30%)
21 pectoralis amyotrophy 58 Frequent (79-30%)

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

Search Clinical Trials , 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

MalaCards organs/tissues related to Calpain-3-Related Limb-Girdle Muscular Dystrophy R1:

40
Heart

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 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 NM_000070.3(CAPN3):c.1699G>T (p.Gly567Trp)SNV Pathogenic 166791 rs727503839 15:42695154-42695154 15:42402956-42402956
2 CAPN3 NM_000070.3(CAPN3):c.598_612del (p.Phe200_Leu204del)deletion Pathogenic 166786 rs727503837 15:42680049-42680063 15:42387851-42387865
3 CAPN3 NM_000070.3(CAPN3):c.1981del (p.Gln660_Ile661insTer)deletion Pathogenic 194691 rs762471207 15:42701567-42701567 15:42409369-42409369
4 CAPN3 NM_000070.3(CAPN3):c.2338G>C (p.Asp780His)SNV Pathogenic 195641 rs778768583 15:42703156-42703156 15:42410958-42410958
5 CAPN3 NM_000070.3(CAPN3):c.756_758GAA[1] (p.Lys254del)short repeat Pathogenic 197624 rs794727697 15:42681249-42681251 15:42389051-42389053
6 CAPN3 NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)duplication Pathogenic 210563 rs797045427 15:42676695-42676696 15:42384497-42384498
7 CAPN3 NM_000070.3(CAPN3):c.1319G>A (p.Arg440Gln)SNV Pathogenic 217147 rs376107921 15:42691815-42691815 15:42399617-42399617
8 CAPN3 NM_000070.3(CAPN3):c.499-1G>ASNV Pathogenic 217157 rs863224964 15:42679950-42679950 15:42387752-42387752
9 CAPN3 NM_000070.3(CAPN3):c.1194-9A>GSNV Pathogenic 217146 rs374665929 15:42691681-42691681 15:42399483-42399483
10 CAPN3 NM_000070.3(CAPN3):c.1343G>A (p.Arg448His)SNV Pathogenic 217149 rs863224956 15:42691839-42691839 15:42399641-42399641
11 CAPN3 NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp)SNV Pathogenic 217150 rs863224957 15:42693949-42693949 15:42401751-42401751
12 CAPN3 NM_000070.3(CAPN3):c.1714C>T (p.Arg572Trp)SNV Pathogenic 217152 rs863224959 15:42695169-42695169 15:42402971-42402971
13 CAPN3 NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter)SNV Pathogenic 217153 rs863224960 15:42701525-42701525 15:42409327-42409327
14 CAPN3 NM_000070.3(CAPN3):c.1992+1G>TSNV Pathogenic 217154 rs863224961 15:42701579-42701579 15:42409381-42409381
15 CAPN3 NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)indel Pathogenic 17618 rs1555423217 15:42703180-42703181 15:42410982-42410983
16 CAPN3 NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys)SNV Pathogenic 17619 rs267606703 15:42686504-42686504 15:42394306-42394306
17 CAPN3 NM_000070.3(CAPN3):c.1795dup (p.Thr599fs)duplication Pathogenic 17620 rs80338803 15:42698129-42698130 15:42405931-42405932
18 CAPN3 , SGCB NM_000070.3(CAPN3):c.550del (p.Thr184fs)deletion Pathogenic 17621 rs80338800 15:42680001-42680001 15:42387803-42387803
19 CAPN3 , POMT1 NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)SNV Pathogenic 17622 rs121434548 15:42693953-42693953 15:42401755-42401755
20 CAPN3 NM_000070.3(CAPN3):c.946-1G>ASNV Pathogenic 21036 rs80338801 15:42684836-42684836 15:42392638-42392638
21 CAPN3 NM_000070.3(CAPN3):c.439C>T (p.Arg147Ter)SNV Pathogenic 242415 rs878854364 15:42678424-42678424 15:42386226-42386226
22 CAPN3 NM_000070.3(CAPN3):c.2306G>A (p.Arg769Gln)SNV Pathogenic 17613 rs80338802 15:42703124-42703124 15:42410926-42410926
23 CAPN3 NM_000070.3(CAPN3):c.1715G>A (p.Arg572Gln)SNV Pathogenic 17614 rs121434544 15:42695170-42695170 15:42402972-42402972
24 CAPN3 NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)SNV Pathogenic 17615 rs121434545 15:42676699-42676699 15:42384501-42384501
25 CAPN3 NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe)SNV Pathogenic 17616 rs121434546 15:42652260-42652260 15:42360062-42360062
26 CAPN3 NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)deletion Pathogenic 217159 rs863224965 15:42681133-42681153 15:42388935-42388955
27 CAPN3 NM_000070.3(CAPN3):c.883_886delinsCTT (p.Asp295fs)indel Pathogenic 217160 rs863224966 15:42682232-42682235 15:42390034-42390037
28 CAPN3 NM_000070.3(CAPN3):c.223dup (p.Tyr75fs)duplication Pathogenic 92411 rs398123146 15:42652223-42652224 15:42360025-42360026
29 CAPN3 NM_000070.3(CAPN3):c.802-9G>ASNV Pathogenic 280037 rs761211705 15:42682142-42682142 15:42389944-42389944
30 CAPN3 NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys)SNV Pathogenic 280038 rs776043976 15:42691838-42691838 15:42399640-42399640
31 CAPN3 NM_000070.3(CAPN3):c.1322del (p.Gly441fs)deletion Pathogenic 281062 rs1555421871 15:42691815-42691815 15:42399617-42399617
32 CAPN3 NM_000070.3(CAPN3):c.2051-1G>TSNV Pathogenic 281184 rs886042108 15:42702128-42702128 15:42409930-42409930
33 CAPN3 NM_000070.3(CAPN3):c.1063C>T (p.Arg355Trp)SNV Pathogenic 281254 rs749099493 15:42686487-42686487 15:42394289-42394289
34 CAPN3 NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)insertion Pathogenic 281689 rs761897806 15:42703179-42703180 15:42410981-42410982
35 CAPN3 NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs)short repeat Pathogenic 282536 rs886042418 15:42702025-42702026 15:42409827-42409828
36 CAPN3 NM_000070.3(CAPN3):c.2242C>T (p.Arg748Ter)SNV Pathogenic 283259 rs768090444 15:42702843-42702843 15:42410645-42410645
37 CAPN3 NM_000070.3(CAPN3):c.258dup (p.Leu87fs)duplication Pathogenic 284122 rs753360208 15:42652260-42652261 15:42360062-42360063
38 CAPN3 NM_000070.3(CAPN3):c.1043del (p.Gly348fs)deletion Pathogenic 286813 rs781013226 15:42686466-42686466 15:42394268-42394268
39 CAPN3 NM_000070.3(CAPN3):c.1801-1G>ASNV Pathogenic 287890 rs886043752 15:42700408-42700408 15:42408210-42408210
40 CAPN3 NM_000070.3(CAPN3):c.1466G>A (p.Arg489Gln)SNV Pathogenic 289644 rs147764579 15:42693950-42693950 15:42401752-42401752
41 CAPN3 NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter)SNV Pathogenic 290348 rs752848213 15:42695117-42695117 15:42402919-42402919
42 CAPN3 NM_000070.3(CAPN3):c.2263+1G>ASNV Pathogenic 290519 rs886044475 15:42702865-42702865 15:42410667-42410667
43 CAPN3 NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter)SNV Pathogenic 441261 rs1555420475 15:42679970-42679970 15:42387772-42387772
44 CAPN3 NC_000015.9:g.(?_42651698)_(42704515_?)deldeletion Pathogenic 468637 15:42651698-42704515 15:42359500-42412317
45 CAPN3 NM_000070.3(CAPN3):c.1027G>T (p.Glu343Ter)SNV Pathogenic 497182 rs766334893 15:42684918-42684918 15:42392720-42392720
46 CAPN3 NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter)SNV Pathogenic 497833 rs1555421523 15:42689000-42689000 15:42396802-42396802
47 CAPN3 NM_000070.3(CAPN3):c.1621C>T (p.Arg541Trp)SNV Pathogenic 498267 rs142004418 15:42695076-42695076 15:42402878-42402878
48 CAPN3 NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu)SNV Pathogenic 501754 rs1555420634 15:42681194-42681194 15:42388996-42388996
49 CAPN3 NM_000070.3(CAPN3):c.1524+1G>ASNV Pathogenic 536512 rs1275289254 15:42694009-42694009 15:42401811-42401811
50 CAPN3 NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs)indel Pathogenic 536516 rs1555420642 15:42681220-42681223 15:42389022-42389025

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
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