LGMDR1
MCID: MSC169
MIFTS: 61

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 (LGMDR1)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:

Name: Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 57 72
Calpainopathy 57 73 25 20 72 36
Lgmd2a 57 20 72 54
Muscular Dystrophy, Limb-Girdle, Type 2a 57 72 13
Muscular Dystrophy, Pelvofemoral 57 20 72
Lgmd2 57 20 72
Muscular Dystrophy, Limb-Girdle, Type 2s 20 70
Muscular Dystrophy, Limb-Girdle, Type 2 57 72
Limb-Girdle Muscular Dystrophy, Type 2a 29 6
Limb-Girdle Muscular Dystrophy, Type 2s 29 6
Limb-Girdle Muscular Dystrophy, Type 2e 6 70
Limb-Girdle Muscular Dystrophy Type 2a 20 70
Leyden-Moebius Muscular Dystrophy 57 20
Lgmdr1 57 72
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 20
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 20
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 20
Muscular Dystrophy, Limb-Girdle, Type 2a; Lgmd2a 57
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 20
Muscular Dystrophy, Limb-Girdle, Type 2; Lgmd2 57
Dystrophy, Muscular, Limb-Girdle, Type 2a 39
Dystrophy, Muscular, Limb-Girdle, Type 2e 39
Dystrophy, Muscular, Limb-Girdle, Type 2s 39
Limb-Girdle Muscular Dystrophy Type 2e 20
Limb-Girdle Muscular Dystrophy Type 2s 20
Limb-Girdle Muscular Dystrophy Type 2 20
Leyden-Moebious Muscular Dystrophy 72
Limb-Girdle Muscular Dystrophy 2a 72
Trappc11-Related Lgmd R18 20
Beta-Sarcoglycanopathy 70
Lgmd Type 2s 20
Lgmd2e 20
Lgmd2s 20

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset ranges from early childhood to adulthood (usually before age 15)
wheelchair use at 20-30 years
gradual progression


HPO:

31
muscular dystrophy, limb-girdle, autosomal recessive 1:
Inheritance autosomal recessive inheritance


GeneReviews:

25
Penetrance Nearly full penetrance is observed in adulthood. some individuals remain asymptomatic until adulthood. serum ck concentration is usually increased until the advanced stage of the disease.

Classifications:



Summaries for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

GARD : 20 Limb-girdle muscular dystrophy type 2A (LGMD2A) is an autosomal recessive limb-girdle muscular dystrophy characterized by progressive, symmetrical weakness of the proximal limb and girdle muscles (mainly those around the hips and shoulders) without heart involvement or intellectual disability. The condition is caused by mutations in the CAPN3 gene. Type 2A is the most common form of limb-girdle muscular dystrophy, accounting for about 30 percent of cases. Treatment is aimed at maintaining mobility and preventing complications. LGMD2A is also known as primary calpainopathy. Calpainopathies are diseases caused by mutations in the CAPN3 gene and can be autosomal recessive or autosomal dominant. There are three subtypes of autosomal recessive disorders associated with mutations in the CAPN3 gene which differ by the distribution of muscle weakness and age at onset: Pelvifemoral limb-girdle muscular dystrophy (also known as Leyden-Mobius LGMD) is the most frequently observed subtype. In these cases, muscle weakness is first evident in the pelvic girdle and later in the shoulder girdle. Onset is usually before age 12 or after age 30; Scapulohumeral LGMD (also known as Erb LGMD) usually has milder symptoms with infrequent early onset. In most cases, muscle weakness is first evident in the shoulder girdle and later in the pelvic girdle; HyperCKemia is usually observed in children or young individuals. In most cases, those affected do not have symptoms, just high levels of creatine kinase in their blood.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1, also known as calpainopathy, is related to muscular dystrophy, limb-girdle, autosomal dominant 2 and autosomal recessive limb-girdle muscular dystrophy type 2a, and has symptoms including ataxia, tremor and waddling gait. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 is CAPN3 (Calpain 3), and among its related pathways/superpathways are Alzheimers Disease and Metastatic brain tumor. Affiliated tissues include skeletal muscle, heart and bone marrow, and related phenotypes are hyperlordosis and cataract

OMIM® : 57 Autosomal recessive limb-girdle muscular dystrophy-1 affects primarily the proximal muscles, resulting in difficulty walking. The age at onset varies, but most patients show onset in childhood, and the disorder is progressive. Other features may include scapular winging, calf pseudohypertrophy, and contractures (summary by Mercuri et al., 2005). (253600) (Updated 20-May-2021)

KEGG : 36 Limb-girdle muscular dystrophy 2A (LGMD2A) is caused by mutations in the CAPN3 gene encoding for calpain-3, a nonlysosomal calcium-dependent protease. This form of disorder is characterized by progressive muscle weakness and atrophy of the shoulder and pelvic girdle musculature, an elevated serum creatine kinase activity and a degeneration/regeneration pattern in muscular biopsy samples.

UniProtKB/Swiss-Prot : 72 Muscular dystrophy, limb-girdle, autosomal recessive 1: An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset.

Wikipedia : 73 Calpainopathy is the most common type of autosomal recessive limb-girdle muscular dystrophy (LGMD). It... more...

GeneReviews: NBK1313

Related Diseases for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

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 25 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2z
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 Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24

Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 130)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, autosomal dominant 2 32.8 SGCB CAPN3
2 autosomal recessive limb-girdle muscular dystrophy type 2a 32.6 SGCB CAPN3
3 muscular dystrophy, becker type 30.6 SGCB MIR146B CAPN3
4 limb-girdle muscular dystrophy 30.3 TRAPPC11 SGCB CAPN3
5 autosomal recessive limb-girdle muscular dystrophy type 2f 30.2 SGCB CAPN3
6 autosomal recessive limb-girdle muscular dystrophy 30.2 TRAPPC11 SGCB CAPN3
7 muscular dystrophy-dystroglycanopathy , type c, 5 30.2 SGCB CAPN3
8 muscular dystrophy, limb-girdle, autosomal recessive 2 30.2 TRAPPC11 SGCB CAPN3
9 muscular dystrophy, limb-girdle, autosomal recessive 4 30.2 SGCB CAPN3
10 muscular dystrophy, limb-girdle, autosomal recessive 6 30.2 SGCB CAPN3
11 muscular dystrophy, congenital, lmna-related 30.0 TRAPPC11 SGCB CAPN3
12 walker-warburg syndrome 29.9 TRAPPC11 SGCB CAPN3
13 inclusion body myositis 29.2 MIR197 MIR155 MIR146B
14 facioscapulohumeral muscular dystrophy 1 28.8 MIR199B MIR155 MIR154 MIR146B MIR132 CAPN3
15 dermatomyositis 27.8 MIR199B MIR155 MIR154 MIR148B MIR148A MIR146B
16 muscular dystrophy, duchenne type 27.3 SGCB MIR199B MIR197 MIR155 MIR154 MIR148A
17 muscular dystrophy limb girdle type 2a, erb type 11.5
18 calpain-3-related limb-girdle muscular dystrophy r1 11.1
19 muscular dystrophy, limb-girdle, autosomal recessive 25 10.9
20 muscular dystrophy, limb-girdle, autosomal recessive 3 10.9
21 muscular dystrophy, limb-girdle, autosomal recessive 17 10.9
22 muscular dystrophy, limb-girdle, autosomal recessive 18 10.9
23 muscular dystrophy, limb-girdle, autosomal recessive 21 10.9
24 muscular dystrophy, limb-girdle, autosomal recessive 23 10.9
25 muscular dystrophy, limb-girdle, autosomal recessive 26 10.9
26 cyanosis, transient neonatal 10.4
27 cardiac arrest 10.4
28 cardiac conduction defect 10.3
29 qualitative or quantitative defects of beta-sarcoglycan 10.3
30 autosomal recessive limb-girdle muscular dystrophy type 2j 10.3 SGCB CAPN3
31 autosomal recessive limb-girdle muscular dystrophy type 2w 10.3 TRAPPC11 SGCB
32 autosomal recessive limb-girdle muscular dystrophy type 2l 10.3 SGCB CAPN3
33 autosomal recessive limb-girdle muscular dystrophy type 2c 10.3 SGCB CAPN3
34 muscular dystrophy-dystroglycanopathy , type c, 9 10.3 TRAPPC11 SGCB
35 autosomal recessive limb-girdle muscular dystrophy type 2g 10.3 SGCB CAPN3
36 muscular dystrophy-dystroglycanopathy , type c, 4 10.3 TRAPPC11 CAPN3
37 cardiomyopathy, familial hypertrophic, 1 10.3
38 cardiomyopathy, familial hypertrophic, 25 10.3
39 sensory peripheral neuropathy 10.3
40 neuropathy 10.3
41 autosomal recessive limb-girdle muscular dystrophy type 2d 10.2 SGCB CAPN3
42 epidermolysis bullosa simplex with muscular dystrophy 10.2
43 histiocytosis 10.2
44 autosomal recessive limb-girdle muscular dystrophy type 2b 10.2 SGCB CAPN3
45 myositis 10.1
46 muscle tissue disease 10.1 SGCB MIR132 CAPN3
47 autosomal recessive disease 10.1
48 myopathy 10.1
49 muscular dystrophy 10.1
50 muscular atrophy 10.0

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:



Diseases related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:

31 (show all 33)
# Description HPO Frequency HPO Source Accession
1 hyperlordosis 31 frequent (33%) HP:0003307
2 cataract 31 frequent (33%) HP:0000518
3 hepatomegaly 31 frequent (33%) HP:0002240
4 myopathy 31 frequent (33%) HP:0003198
5 absent speech 31 frequent (33%) HP:0001344
6 elevated hepatic transaminase 31 frequent (33%) HP:0002910
7 limb-girdle muscular dystrophy 31 frequent (33%) HP:0006785
8 waddling gait 31 frequent (33%) HP:0002515
9 myalgia 31 frequent (33%) HP:0003326
10 hyporeflexia 31 frequent (33%) HP:0001265
11 intellectual disability, borderline 31 frequent (33%) HP:0006889
12 proximal muscle weakness 31 frequent (33%) HP:0003701
13 difficulty walking 31 frequent (33%) HP:0002355
14 muscle fiber atrophy 31 frequent (33%) HP:0100295
15 muscle spasm 31 frequent (33%) HP:0003394
16 cerebral white matter atrophy 31 frequent (33%) HP:0012762
17 abnormal circulating creatine kinase concentration 31 frequent (33%) HP:0040081
18 facial palsy 31 occasional (7.5%) HP:0010628
19 chorea 31 occasional (7.5%) HP:0002072
20 microcephaly 31 occasional (7.5%) HP:0000252
21 hepatic steatosis 31 occasional (7.5%) HP:0001397
22 infantile muscular hypotonia 31 occasional (7.5%) HP:0008947
23 truncal ataxia 31 occasional (7.5%) HP:0002078
24 exophoria 31 occasional (7.5%) HP:0025313
25 bilateral tonic-clonic seizure 31 occasional (7.5%) HP:0002069
26 flexion contracture 31 HP:0001371
27 elevated serum creatine kinase 31 HP:0003236
28 scapular winging 31 HP:0003691
29 muscular dystrophy 31 HP:0003560
30 proximal amyotrophy 31 HP:0007126
31 clumsiness 31 HP:0002312
32 eosinophilia 31 HP:0001880
33 myositis 31 HP:0100614

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Muscle Soft Tissue:
difficulty walking
symmetrical, proximal limb muscle atrophy (pelvic, scapular, trunk muscles)
motor clumsiness
calf pseudohypertrophy rare
gluteus maximus and thigh adductors most affected
more
Skeletal Limbs:
contractures (in a subset of patients)

Head And Neck Face:
facial weakness (less common)

Laboratory Abnormalities:
elevated creatine kinase
transient eosinophilia in first decade

Clinical features from OMIM®:

253600 (Updated 20-May-2021)

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:


ataxia; tremor; waddling gait; myalgia; athetosis; muscle cramp

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Single-Center, Open-Label, Systemic Gene Delivery Study to Evaluate the Safety, Tolerability, and Efficacy of SRP-9003 Administered by Systemic Infusion in Subjects With LGMD2E (╬▓-Sarcoglycan Deficiency). Active, not recruiting NCT03652259 Phase 1, Phase 2
2 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
3 Natural History of Disease Progression in Individuals With Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
4 Clinical Determinants of Disease Progression in Patients With Limb Girdle Muscular Distrophy Type 2E Recruiting NCT04509609
5 Journey: A Global, Multicenter, Longitudinal Study of the Natural History of Subjects With Limb Girdle Muscular Dystrophy (LGMD) Type 2E (LGMD2E/R4), Type 2D (LGMD2D/R3), and Type 2C (LGMD2C/R5) Recruiting NCT04475926

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2a 29 CAPN3
2 Limb-Girdle Muscular Dystrophy, Type 2s 29 TRAPPC11

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:

40
Skeletal Muscle, Heart, Bone Marrow, Liver, Monocytes, Pancreas, Cervix

Publications for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Articles related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:

(show top 50) (show all 365)
# Title Authors PMID Year
1
cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark. 57 6 25 54 61
18337726 2008
2
Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. 61 25 54 57 6
17994539 2008
3
Screening of calpain-3 autolytic activity in LGMD muscle: a functional map of CAPN3 gene mutations. 61 54 57 25 6
16971480 2007
4
Molecular diagnosis in LGMD2A: mutation analysis or protein testing? 61 54 6 25 57
15221789 2004
5
A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy. 6 57 25 61
27259757 2016
6
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? 6 57 25 61
21204801 2011
7
How to tackle the diagnosis of limb-girdle muscular dystrophy 2A. 61 57 6 25
18854869 2009
8
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis. 57 54 6 25
18563459 2008
9
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. 54 6 25 57
17318636 2007
10
CAPN3 mutations in patients with idiopathic eosinophilic myositis. 54 57 6 25
16607617 2006
11
Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia. 25 6 57 61
14981715 2004
12
Calpainopathy-a survey of mutations and polymorphisms. 6 25 57 61
10330340 1999
13
Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families. 25 6 57
17562833 2007
14
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes. 25 57 6
16141003 2005
15
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. 57 25 6
15725583 2005
16
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). 6 57 25
9762961 1998
17
Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. 6 57 25
8624690 1996
18
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 6 57 25
7720071 1995
19
LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene. 25 6 61 54
15689361 2005
20
Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. 54 61 6 25
15351423 2004
21
The effect of calpain 3 deficiency on the pattern of muscle degeneration in the earliest stages of LGMD2A. 54 6 25 61
12890817 2003
22
Clinical variability in calpainopathy: what makes the difference? 25 6 54 61
12461690 2002
23
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A. 61 6 25
27500519 2017
24
Rhabdomyolysis featuring muscular dystrophies. 6 25 61
26810512 2016
25
Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3. 61 6 25
21624972 2011
26
Transcriptional and translational effects of intronic CAPN3 gene mutations. 61 6 25
20635405 2010
27
[Diagnostic procedure of limb girdle muscular dystrophies 2A or calpainopathies: French cohort from a neuromuscular center (Bordeaux)]. 61 25 6
20044116 2010
28
Eosinophilic myositis in calpainopathy: could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease? 61 25 6
19285864 2009
29
Phenotypic variability in siblings with calpainopathy (LGMD2A). 61 6 25
19364062 2008
30
NF-kappaB-dependent expression of the antiapoptotic factor c-FLIP is regulated by calpain 3, the protein involved in limb-girdle muscular dystrophy type 2A. 54 25 6
18073330 2008
31
Gene expression profiling in limb-girdle muscular dystrophy 2A. 54 6 25
19015733 2008
32
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A. 54 25 6
18055493 2007
33
Transcriptional explorations of CAPN3 identify novel splicing mutations, a large-sized genomic deletion and evidence for messenger RNA decay. 54 25 6
17979987 2007
34
Frequency of calpain-3 c.550delA mutation in limb girdle muscular dystrophy type 2 and isolated hyperCKemia in German patients. 6 54 25
17702496 2007
35
A third of LGMD2A biopsies have normal calpain 3 proteolytic activity as determined by an in vitro assay. 54 25 6
17236769 2007
36
Screening of the CAPN3 gene in patients with possible LGMD2A. 6 54 25
16650086 2006
37
Calpain-3 mutations in Turkey. 54 25 6
16411092 2006
38
Analysis of histopathologic and molecular pathologic findings in Czech LGMD2A patients. 25 54 6
16372320 2006
39
550delA mutation in the calpain 3 (CAPN3) gene: DMD/BMD, SMA, or LGMD2A--clinically misdiagnosed cases. 54 25 6
16001438 2005
40
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis. 61 25 6
16100770 2005
41
Muscle MRI findings in patients with limb girdle muscular dystrophy with calpain 3 deficiency (LGMD2A) and early contractures. 25 57 54
15694138 2005
42
Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro. 57 6
15138196 2004
43
The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach. 61 25 6
11297944 2001
44
High incidence of 550delA mutation of CAPN3 in LGMD2 patients from Russia. 54 25 6
10679950 2000
45
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. 6 25 54
9777948 1998
46
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. 6 25 54
9642272 1998
47
A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. 25 54 6
9266733 1997
48
Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. 57 6
7581448 1995
49
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. 57 6
7762565 1995
50
Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. 57 6
7795603 1995

Variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:

6 (show top 50) (show all 973)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CAPN3 NC_000015.10:g.(?_42359500)_(42412317_?)del Deletion Pathogenic 468637 GRCh37: 15:42651698-42704515
GRCh38: 15:42359500-42412317
2 CAPN3 NC_000015.10:g.(?_42359796)_(42360124_?)del Deletion Pathogenic 640989 GRCh37: 15:42651994-42652322
GRCh38: 15:42359796-42360124
3 CAPN3 NC_000015.10:g.(?_42359796)_(42399662_?)del Deletion Pathogenic 647946 GRCh37: 15:42651994-42691860
GRCh38: 15:42359796-42399662
4 CAPN3 NC_000015.10:g.(?_42394246)_(42394351_?)del Deletion Pathogenic 648523 GRCh37: 15:42686444-42686549
GRCh38: 15:42394246-42394351
5 CAPN3 NC_000015.10:g.(?_42389933)_(42411793_?)del Deletion Pathogenic 650702 GRCh37: 15:42682131-42703991
GRCh38: 15:42389933-42411793
6 CAPN3 NC_000015.10:g.(?_42359796)_(42411783_?)del Deletion Pathogenic 655755 GRCh37: 15:42651994-42703981
GRCh38: 15:42359796-42411783
7 CAPN3 NC_000015.10:g.(?_42396790)_(42404849_?)del Deletion Pathogenic 832060 GRCh37: 15:42688988-42697047
GRCh38:
8 CAPN3 NC_000015.10:g.(?_42384473)_(42392732_?)del Deletion Pathogenic 832061 GRCh37: 15:42676671-42684930
GRCh38:
9 CAPN3 NC_000015.10:g.(?_42384473)_(42394351_?)del Deletion Pathogenic 832313 GRCh37: 15:42676671-42686549
GRCh38:
10 CAPN3 NC_000015.10:g.(?_42384473)_(42390106_?)del Deletion Pathogenic 833365 GRCh37: 15:42676671-42682304
GRCh38:
11 CAPN3 NM_000070.3(CAPN3):c.946-1G>A SNV Pathogenic 21036 rs80338801 GRCh37: 15:42684836-42684836
GRCh38: 15:42392638-42392638
12 CAPN3 NM_000070.3(CAPN3):c.2305C>T (p.Arg769Trp) SNV Pathogenic 282411 rs868791726 GRCh37: 15:42703123-42703123
GRCh38: 15:42410925-42410925
13 CAPN3 NM_000070.3(CAPN3):c.1801-1G>A SNV Pathogenic 287890 rs886043752 GRCh37: 15:42700408-42700408
GRCh38: 15:42408210-42408210
14 CAPN3 NM_000070.3(CAPN3):c.2034_2035CA[1] (p.Thr679fs) Microsatellite Pathogenic 282536 rs886042418 GRCh37: 15:42702025-42702026
GRCh38: 15:42409827-42409828
15 CAPN3 NM_000070.3(CAPN3):c.2051-1G>T SNV Pathogenic 281184 rs886042108 GRCh37: 15:42702128-42702128
GRCh38: 15:42409930-42409930
16 CAPN3 NM_000070.3(CAPN3):c.2263+1G>A SNV Pathogenic 290519 rs886044475 GRCh37: 15:42702865-42702865
GRCh38: 15:42410667-42410667
17 CAPN3 NM_000070.3(CAPN3):c.518G>A (p.Trp173Ter) SNV Pathogenic 441261 rs1555420475 GRCh37: 15:42679970-42679970
GRCh38: 15:42387772-42387772
18 CAPN3 NM_000070.3(CAPN3):c.1465C>T (p.Arg489Trp) SNV Pathogenic 217150 rs863224957 GRCh37: 15:42693949-42693949
GRCh38: 15:42401751-42401751
19 CAPN3 NM_000070.3(CAPN3):c.1939G>T (p.Glu647Ter) SNV Pathogenic 217153 rs863224960 GRCh37: 15:42701525-42701525
GRCh38: 15:42409327-42409327
20 CAPN3 NM_000070.3(CAPN3):c.566T>C (p.Leu189Pro) SNV Pathogenic 217158 rs758795961 GRCh37: 15:42680018-42680018
GRCh38: 15:42387820-42387820
21 CAPN3 NM_000070.3(CAPN3):c.1080G>C (p.Trp360Cys) SNV Pathogenic 17619 rs267606703 GRCh37: 15:42686504-42686504
GRCh38: 15:42394306-42394306
22 CAPN3 NM_000070.3(CAPN3):c.257C>T (p.Ser86Phe) SNV Pathogenic 17616 rs121434546 GRCh37: 15:42652260-42652260
GRCh38: 15:42360062-42360062
23 CAPN3 NM_000070.3(CAPN3):c.1524+1G>A SNV Pathogenic 536512 rs1275289254 GRCh37: 15:42694009-42694009
GRCh38: 15:42401811-42401811
24 CAPN3 NM_000070.3(CAPN3):c.727_730delinsAT (p.Asp243fs) Indel Pathogenic 536516 rs1555420642 GRCh37: 15:42681220-42681223
GRCh38: 15:42389022-42389025
25 CAPN3 NM_000070.3(CAPN3):c.291C>A (p.Phe97Leu) SNV Pathogenic 548137 rs758058910 GRCh37: 15:42652294-42652294
GRCh38: 15:42360096-42360096
26 CAPN3 NM_000070.3(CAPN3):c.2242C>G (p.Arg748Gly) SNV Pathogenic 548138 rs768090444 GRCh37: 15:42702843-42702843
GRCh38: 15:42410645-42410645
27 CAPN3 NM_000070.3(CAPN3):c.2065_2066AC[2] (p.His690fs) Microsatellite Pathogenic 551927 rs1555423046 GRCh37: 15:42702143-42702144
GRCh38: 15:42409945-42409946
28 CAPN3 NM_000070.3(CAPN3):c.801+1G>A SNV Pathogenic 552843 rs1459288402 GRCh37: 15:42681295-42681295
GRCh38: 15:42389097-42389097
29 CAPN3 NM_000070.3(CAPN3):c.2314_2317del (p.Asp772fs) Deletion Pathogenic 552945 rs764086484 GRCh37: 15:42703130-42703133
GRCh38: 15:42410932-42410935
30 CAPN3 NM_000070.3(CAPN3):c.1524+1G>T SNV Pathogenic 554341 rs1275289254 GRCh37: 15:42694009-42694009
GRCh38: 15:42401811-42401811
31 CAPN3 NM_000070.3(CAPN3):c.1838del (p.Lys613fs) Deletion Pathogenic 554906 rs1555422832 GRCh37: 15:42700445-42700445
GRCh38: 15:42408247-42408247
32 CAPN3 NM_000070.3(CAPN3):c.1771del (p.Asp591fs) Deletion Pathogenic 578891 rs754761503 GRCh37: 15:42695963-42695963
GRCh38: 15:42403765-42403765
33 CAPN3 NM_000070.3(CAPN3):c.1118G>A (p.Trp373Ter) SNV Pathogenic 497833 rs1555421523 GRCh37: 15:42689000-42689000
GRCh38: 15:42396802-42396802
34 CAPN3 NM_000070.3(CAPN3):c.1933del (p.Asp645fs) Deletion Pathogenic 663070 rs1595845459 GRCh37: 15:42701519-42701519
GRCh38: 15:42409321-42409321
35 CAPN3 NM_000070.3(CAPN3):c.509dup (p.Tyr170Ter) Duplication Pathogenic 653660 rs1595821204 GRCh37: 15:42679960-42679961
GRCh38: 15:42387762-42387763
36 CAPN3 NM_000070.3(CAPN3):c.1662C>G (p.Tyr554Ter) SNV Pathogenic 290348 rs752848213 GRCh37: 15:42695117-42695117
GRCh38: 15:42402919-42402919
37 CAPN3 NM_000070.3(CAPN3):c.2118_2121del (p.Asp707fs) Deletion Pathogenic 659272 rs1595846922 GRCh37: 15:42702628-42702631
GRCh38: 15:42410430-42410433
38 CAPN3 NM_000070.3(CAPN3):c.1576del (p.Leu526fs) Deletion Pathogenic 655955 rs1595838545 GRCh37: 15:42695030-42695030
GRCh38: 15:42402832-42402832
39 CAPN3 NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs) Insertion Pathogenic 281689 rs761897806 GRCh37: 15:42703179-42703180
GRCh38: 15:42410981-42410982
40 CAPN3 NM_000070.3(CAPN3):c.2318_2321dup (p.His774fs) Duplication Pathogenic 837037 GRCh37: 15:42703132-42703133
GRCh38: 15:42410934-42410935
41 CAPN3 NM_000070.3(CAPN3):c.444del (p.Ile149fs) Deletion Pathogenic 837974 GRCh37: 15:42678429-42678429
GRCh38: 15:42386231-42386231
42 CAPN3 NM_000070.3(CAPN3):c.806del (p.Gly269fs) Deletion Pathogenic 845509 GRCh37: 15:42682154-42682154
GRCh38: 15:42389956-42389956
43 CAPN3 NM_000070.3(CAPN3):c.796del (p.Ile266fs) Deletion Pathogenic 850654 GRCh37: 15:42681289-42681289
GRCh38: 15:42389091-42389091
44 CAPN3 NM_000070.3(CAPN3):c.2230del (p.Ser744fs) Deletion Pathogenic 864339 GRCh37: 15:42702831-42702831
GRCh38: 15:42410633-42410633
45 CAPN3 NM_000070.3(CAPN3):c.1355-1G>C SNV Pathogenic 288426 rs747557404 GRCh37: 15:42693838-42693838
GRCh38: 15:42401640-42401640
46 CAPN3 NM_000070.3(CAPN3):c.562del (p.Gln188fs) Deletion Pathogenic 859768 GRCh37: 15:42680014-42680014
GRCh38: 15:42387816-42387816
47 CAPN3 NM_000070.3(CAPN3):c.100del (p.Ala34fs) Deletion Pathogenic 861571 GRCh37: 15:42652102-42652102
GRCh38: 15:42359904-42359904
48 CAPN3 NM_000070.3(CAPN3):c.1865_1866del (p.Glu622fs) Microsatellite Pathogenic 935255 GRCh37: 15:42700471-42700472
GRCh38: 15:42408273-42408274
49 CAPN3 NM_000070.3(CAPN3):c.1455del (p.Met485fs) Deletion Pathogenic 935813 GRCh37: 15:42693939-42693939
GRCh38: 15:42401741-42401741
50 CAPN3 NM_000070.3(CAPN3):c.1855C>T (p.Gln619Ter) SNV Pathogenic 595306 rs1566983844 GRCh37: 15:42700463-42700463
GRCh38: 15:42408265-42408265

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1:

72 (show top 50) (show all 52)
# Symbol AA change Variation ID SNP ID
1 CAPN3 p.Leu182Gln VAR_001363
2 CAPN3 p.Gly234Glu VAR_001365 rs155542063
3 CAPN3 p.Val354Gly VAR_001366 rs155542127
4 CAPN3 p.Arg490Trp VAR_001367 rs141656719
5 CAPN3 p.Arg572Gln VAR_001368 rs121434544
6 CAPN3 p.Ser744Gly VAR_001369 rs750083132
7 CAPN3 p.Arg769Gln VAR_001370 rs80338802
8 CAPN3 p.Val4Ile VAR_009548 rs140660066
9 CAPN3 p.Pro26Leu VAR_009549 rs762020512
10 CAPN3 p.Asp77Asn VAR_009550
11 CAPN3 p.Ser86Phe VAR_009551 rs121434546
12 CAPN3 p.Arg118Gly VAR_009554 rs156697358
13 CAPN3 p.Cys137Arg VAR_009555
14 CAPN3 p.Ile162Leu VAR_009556
15 CAPN3 p.Pro183Leu VAR_009557
16 CAPN3 p.Leu189Pro VAR_009559 rs758795961
17 CAPN3 p.Gly214Ser VAR_009560 rs369784333
18 CAPN3 p.Ser215Pro VAR_009561
19 CAPN3 p.Glu217Lys VAR_009563 rs773001194
20 CAPN3 p.Gly222Arg VAR_009564 rs134512155
21 CAPN3 p.Glu226Lys VAR_009565
22 CAPN3 p.Thr232Ile VAR_009566
23 CAPN3 p.Pro319Leu VAR_009569 rs121434547
24 CAPN3 p.His334Gln VAR_009570
25 CAPN3 p.Tyr336Asn VAR_009571
26 CAPN3 p.Trp360Cys VAR_009572 rs267606703
27 CAPN3 p.Arg437Cys VAR_009573 rs777483913
28 CAPN3 p.Arg440Trp VAR_009574 rs777323132
29 CAPN3 p.Gly441Asp VAR_009575
30 CAPN3 p.Gly445Arg VAR_009576 rs773827877
31 CAPN3 p.Arg448Cys VAR_009577 rs776043976
32 CAPN3 p.Arg448Gly VAR_009578 rs776043976
33 CAPN3 p.Arg448His VAR_009579 rs863224956
34 CAPN3 p.Ser479Gly VAR_009580 rs201736037
35 CAPN3 p.Gln486Glu VAR_009581
36 CAPN3 p.Arg489Gln VAR_009582 rs147764579
37 CAPN3 p.Arg489Trp VAR_009583 rs863224957
38 CAPN3 p.Arg490Gln VAR_009584 rs121434548
39 CAPN3 p.Arg493Trp VAR_009585 rs557164942
40 CAPN3 p.Gly496Arg VAR_009586 rs761637940
41 CAPN3 p.Ile502Thr VAR_009587 rs148044781
42 CAPN3 p.Arg541Gln VAR_009588 rs398123143
43 CAPN3 p.Gly567Trp VAR_009589 rs727503839
44 CAPN3 p.Arg572Trp VAR_009590 rs863224959
45 CAPN3 p.Ser606Leu VAR_009591 rs199806879
46 CAPN3 p.Gln638Pro VAR_009592
47 CAPN3 p.Arg698Pro VAR_009593
48 CAPN3 p.Ala702Val VAR_009594 rs886042557
49 CAPN3 p.Asp705Gly VAR_009595
50 CAPN3 p.Asp705His VAR_009596

Expression for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

LifeMap Discovery
Genes differentially expressed in tissues of Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 patients vs. healthy controls: 35
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 MYH3 myosin heavy chain 3 Skeletal Muscle + 4.27 0.000
Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1.

Pathways for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Pathways related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.97 MIR199B MIR134 MIR132
2 10.4 MIR148B MIR148A

GO Terms for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

Cellular components related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.28 MIR199B MIR197 MIR155 MIR148B MIR148A MIR146B

Biological processes related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.58 MIR199B MIR132 MIR130A
2 negative regulation of blood vessel endothelial cell migration GO:0043537 9.51 MIR155 MIR132
3 negative regulation of interleukin-1 beta production GO:0032691 9.49 MIR155 MIR132
4 negative regulation of interleukin-8 production GO:0032717 9.48 MIR155 MIR132
5 negative regulation of vascular endothelial growth factor production GO:1904046 9.46 MIR199B MIR134
6 positive regulation of vascular endothelial cell proliferation GO:1905564 9.43 MIR132 MIR130A
7 cholesterol homeostasis GO:0042632 9.43 MIR155 MIR148A MIR132
8 muscle cell cellular homeostasis GO:0046716 9.37 MIR155 CAPN3
9 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.33 MIR199B MIR155 MIR146B
10 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.32 MIR155 MIR148A
11 gene silencing by miRNA GO:0035195 9.32 MIR199B MIR197 MIR155 MIR154 MIR148B MIR148A
12 miRNA mediated inhibition of translation GO:0035278 9.26 MIR155 MIR148A MIR134 MIR132

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.28 MIR199B MIR155 MIR154 MIR148B MIR148A MIR146B

Sources for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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