LGMD2A
MCID: MSC169
MIFTS: 45

Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 (LGMD2A)

Categories: Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare 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
Calpainopathy 57 38 24 53 75 37
Lgmd2a 57 53 59 75 55
Muscular Dystrophy, Limb-Girdle, Type 2a 57 13
Limb-Girdle Muscular Dystrophy, Type 2a 29 6
Leyden-Moebius Muscular Dystrophy 57 53
Muscular Dystrophy, Pelvofemoral 57 53
Lgmd2 57 53
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 59
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency 59
Muscular Dystrophy, Limb-Girdle, Type 2a; Lgmd2a 57
Muscular Dystrophy, Limb-Girdle, Type 2; Lgmd2 57
Dystrophy, Muscular, Limb-Girdle, Type 2a 40
Muscular Dystrophy, Limb-Girdle, Type 2 57
Limb-Girdle Muscular Dystrophy Type 2a 53
Limb-Girdle Muscular Dystrophy Type 2 53
Limb-Girdle Muscular Dystrophy 2a 75
Muscular Dystrophy Pelvofemoral 75
Primary Calpainopathy 59
Lgmdr1 57

Characteristics:

Orphanet epidemiological data:

59
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;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
muscular dystrophy, limb-girdle, autosomal recessive 1:
Inheritance autosomal recessive inheritance


GeneReviews:

24
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:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 253600
Orphanet 59 ORPHA267
UMLS via Orphanet 74 C1869123
ICD10 via Orphanet 34 G71.0
MeSH 44 D049288
KEGG 37 H00592

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

NIH Rare Diseases : 53 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, duchenne type and inclusion body myositis. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 is CAPN3 (Calpain 3). Affiliated tissues include heart, skeletal muscle and lung, and related phenotypes are flexion contracture and elevated serum creatine phosphokinase

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)

UniProtKB/Swiss-Prot : 75 Limb-girdle muscular dystrophy 2A: 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.

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 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 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 muscular dystrophy, duchenne type 30.0 MIR134 MIR148A MIR154 MIR21
2 inclusion body myositis 29.8 MIR21 MIR381
3 muscular dystrophy limb girdle type 2a, erb type 12.5
4 autosomal recessive limb-girdle muscular dystrophy type 2a 11.7
5 muscular dystrophy, limb-girdle, autosomal recessive 2 11.0
6 myopathy, autosomal recessive, with rigid spine and distal joint contractures 11.0
7 muscular dystrophy, limb-girdle, autosomal recessive 3 11.0
8 muscular dystrophy, limb-girdle, autosomal recessive 17 11.0
9 muscular dystrophy, limb-girdle, autosomal recessive 18 11.0
10 muscular dystrophy, limb-girdle, autosomal recessive 21 11.0
11 muscular dystrophy, limb-girdle, autosomal recessive 23 11.0
12 isolated hyperckemia 10.4
13 cardiac arrest 10.3
14 epilepsy 10.3
15 muscular dystrophy 10.3
16 limb-girdle muscular dystrophy 10.3
17 muscular dystrophy, becker type 10.3
18 autosomal recessive limb-girdle muscular dystrophy 10.2
19 myositis 10.2
20 walker-warburg syndrome 10.0
21 facioscapulohumeral muscular dystrophy 1 10.0 MIR154 MIR21
22 miyoshi muscular dystrophy 10.0
23 myopathy 10.0
24 dysferlinopathy 10.0
25 nonalcoholic fatty liver disease 10.0 MIR154 MIR21
26 pancreatic ductal adenocarcinoma 10.0 MIR148A MIR21
27 polymyositis 10.0 MIR21 MIR382
28 bethlem myopathy 1 10.0
29 mcleod syndrome 10.0
30 foot drop 10.0
31 nemaline myopathy 9.9 MIR134 MIR382
32 cholangiocarcinoma 9.9 MIR148A MIR21
33 autism spectrum disorder 9.8 MIR21 MIR381
34 miyoshi muscular dystrophy 1 9.6 MIR148A MIR381 MIR382
35 dermatomyositis 9.5 MIR154 MIR21 MIR381 MIR382
36 ovarian cancer 9.5 MIR134 MIR21 MIR381

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

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 flexion contracture 59 32 Frequent (79-30%) HP:0001371
2 elevated serum creatine phosphokinase 59 32 Frequent (79-30%) HP:0003236
3 scapular winging 59 32 Frequent (79-30%) HP:0003691
4 difficulty walking 59 32 Frequent (79-30%) HP:0002355
5 muscular dystrophy 59 32 Frequent (79-30%) HP:0003560
6 hyperlordosis 59 Frequent (79-30%)
7 facial palsy 32 occasional (7.5%) HP:0010628
8 generalized muscle weakness 59 Very frequent (99-80%)
9 elbow flexion contracture 59 Frequent (79-30%)
10 spinal rigidity 59 Frequent (79-30%)
11 toe walking 59 Frequent (79-30%)
12 clumsiness 32 HP:0002312
13 proximal muscle weakness 59 Frequent (79-30%)
14 wrist flexion contracture 59 Occasional (29-5%)
15 myositis 32 HP:0100614
16 lower limb muscle weakness 59 Frequent (79-30%)
17 ankle contracture 59 Frequent (79-30%)
18 proximal amyotrophy 32 HP:0007126
19 difficulty climbing stairs 59 Occasional (29-5%)
20 eosinophilia 32 HP:0001880
21 calf muscle hypertrophy 59 Frequent (79-30%)
22 congenital finger flexion contractures 59 Frequent (79-30%)
23 hamstring contractures 59 Frequent (79-30%)
24 pelvic girdle amyotrophy 59 Frequent (79-30%)
25 scapular muscle atrophy 59 Frequent (79-30%)
26 pectoralis amyotrophy 59 Frequent (79-30%)

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

Search Clinical Trials , 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

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

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

41
Heart, Skeletal Muscle, Lung, Liver, Thyroid

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

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

(show all 50)
# Title Authors Year
1
Fatty infiltration evaluation and selective pattern characterization of lower limbs in limb girdle muscular dystrophy type 2A by muscle magnetic resonance imaging. ( 29797799 )
2018
2
Limb-girdle Muscular Dystrophy Type 2A with Muscular Eosinophilic Infiltration in a Chinese Patient. ( 30127231 )
2018
3
Autosomal dominant calpainopathy due to heterozygous CAPN3 C.643_663del21. ( 28881388 )
2018
4
Molecular genetic study of Calpainopathy in Iran. ( 30056071 )
2018
5
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing. ( 28615910 )
2017
6
Epidemiological and Molecular Characterization of a Mexican Population Isolate with High Prevalence of Limb-Girdle Muscular Dystrophy Type 2A Due to a Novel Calpain-3 Mutation. ( 28103310 )
2017
7
Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy. ( 28190647 )
2017
8
Calpainopathy with macrophage-rich, regional inflammatory infiltrates. ( 28602176 )
2017
9
Left ventricular deformation abnormalities in a patient with calpainopathy-a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. ( 29312873 )
2017
10
Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A. ( 27861222 )
2016
11
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. ( 27020652 )
2016
12
Limb-girdle muscular dystrophy type 2A in Brazilian children. ( 26677118 )
2015
13
Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene. ( 26583491 )
2015
14
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls. ( 25900067 )
2015
15
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A. ( 24715573 )
2014
16
A cardiomyopathy in a patient with limb girdle muscular dystrophy type 2A. ( 23322878 )
2013
17
Limb-girdle Muscular Dystrophy Type 2A with Mutation in CAPN3: The First Report in Taiwan. ( 23597518 )
2013
18
Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A. ( 22926650 )
2012
19
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. ( 20739790 )
2010
20
Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene. ( 21386772 )
2010
21
Limb-girdle muscular dystrophy type 2A. ( 20739783 )
2010
22
[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A]. ( 20517216 )
2010
23
Calpainopathy presenting as foot drop in a 41 year old. ( 20580976 )
2010
24
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a. ( 19926129 )
2009
25
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. ( 19226146 )
2009
26
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. ( 18073330 )
2008
27
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). ( 16934440 )
2007
28
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. ( 17526799 )
2007
29
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. ( 17594342 )
2007
30
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling. ( 17258832 )
2007
31
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. ( 16290124 )
2006
32
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype? ( 16816913 )
2006
33
Limb girdle muscular dystrophy type 2A presenting with cardiac arrest. ( 11301229 )
2001
34
Normal calpain expression in genetically confirmed limb-girdle muscular dystrophy type 2A. ( 11245732 )
2001
35
Pathophysiology of limb girdle muscular dystrophy type 2A: hypothesis and new insights into the IkappaBalpha/NF-kappaB survival pathway in skeletal muscle. ( 11485017 )
2001
36
Molecular analysis of p94 and its application to diagnosis of limb girdle muscular dystrophy type 2A. ( 10818750 )
2000
37
Skeletal muscle-specific calpain, p94, and connectin/titin: their physiological functions and relationship to limb-girdle muscular dystrophy type 2A. ( 10987085 )
2000
38
Myopathy phenotype of transgenic mice expressing active site-mutated inactive p94 skeletal muscle-specific calpain, the gene product responsible for limb girdle muscular dystrophy type 2A. ( 10814721 )
2000
39
Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IkappaB alpha/NF-kappaB pathway in limb-girdle muscular dystrophy type 2A. ( 10229226 )
1999
40
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. ( 9771675 )
1998
41
Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A. ( 9777948 )
1998
42
Limb girdle muscular dystrophy type 2A (CAPN3): mapping using allelic association. ( 9813455 )
1998
43
Functional defects of a muscle-specific calpain, p94, caused by mutations associated with limb-girdle muscular dystrophy type 2A. ( 9642272 )
1998
44
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. ( 9150160 )
1997
45
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. ( 9246005 )
1997
46
Prenatal diagnosis of limb-girdle muscular dystrophy type 2A. ( 8784805 )
1996
47
Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. ( 7762565 )
1995
48
Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence. ( 8537379 )
1995
49
An STS map of the limb girdle muscular dystrophy type 2A region. ( 8563179 )
1995
50
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. ( 7720071 )
1995

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

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

75 (show top 50) (show all 53)
# Symbol AA change Variation ID SNP ID
1 CAPN3 p.Leu182Gln VAR_001363
2 CAPN3 p.Gly234Glu VAR_001365
3 CAPN3 p.Val354Gly VAR_001366
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
13 CAPN3 p.Cys137Arg VAR_009555
14 CAPN3 p.Ile162Leu VAR_009556
15 CAPN3 p.Pro183Leu VAR_009557
16 CAPN3 p.Thr184Met VAR_009558 rs35889956
17 CAPN3 p.Leu189Pro VAR_009559 rs758795961
18 CAPN3 p.Gly214Ser VAR_009560 rs369784333
19 CAPN3 p.Ser215Pro VAR_009561
20 CAPN3 p.Glu217Lys VAR_009563 rs773001194
21 CAPN3 p.Gly222Arg VAR_009564 rs134512155
22 CAPN3 p.Glu226Lys VAR_009565
23 CAPN3 p.Thr232Ile VAR_009566
24 CAPN3 p.Pro319Leu VAR_009569 rs121434547
25 CAPN3 p.His334Gln VAR_009570
26 CAPN3 p.Tyr336Asn VAR_009571
27 CAPN3 p.Trp360Cys VAR_009572 rs267606703
28 CAPN3 p.Arg437Cys VAR_009573 rs777483913
29 CAPN3 p.Arg440Trp VAR_009574 rs777323132
30 CAPN3 p.Gly441Asp VAR_009575
31 CAPN3 p.Gly445Arg VAR_009576 rs773827877
32 CAPN3 p.Arg448Cys VAR_009577 rs776043976
33 CAPN3 p.Arg448Gly VAR_009578 rs776043976
34 CAPN3 p.Arg448His VAR_009579 rs863224956
35 CAPN3 p.Ser479Gly VAR_009580 rs201736037
36 CAPN3 p.Gln486Glu VAR_009581
37 CAPN3 p.Arg489Gln VAR_009582 rs147764579
38 CAPN3 p.Arg489Trp VAR_009583 rs863224957
39 CAPN3 p.Arg490Gln VAR_009584 rs121434548
40 CAPN3 p.Arg493Trp VAR_009585 rs557164942
41 CAPN3 p.Gly496Arg VAR_009586 rs761637940
42 CAPN3 p.Ile502Thr VAR_009587 rs148044781
43 CAPN3 p.Arg541Gln VAR_009588 rs398123143
44 CAPN3 p.Gly567Trp VAR_009589 rs727503839
45 CAPN3 p.Arg572Trp VAR_009590 rs863224959
46 CAPN3 p.Ser606Leu VAR_009591 rs199806879
47 CAPN3 p.Gln638Pro VAR_009592
48 CAPN3 p.Arg698Pro VAR_009593
49 CAPN3 p.Ala702Val VAR_009594 rs886042557
50 CAPN3 p.Asp705Gly VAR_009595

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

6 (show top 50) (show all 689)
# Gene Variation Type Significance SNP ID Assembly Location
1 CAPN3 NM_000070.2(CAPN3): c.2306G> A (p.Arg769Gln) single nucleotide variant Pathogenic rs80338802 GRCh37 Chromosome 15, 42703124: 42703124
2 CAPN3 NM_000070.2(CAPN3): c.2306G> A (p.Arg769Gln) single nucleotide variant Pathogenic rs80338802 GRCh38 Chromosome 15, 42410926: 42410926
3 CAPN3 NM_000070.2(CAPN3): c.1715G> A (p.Arg572Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434544 GRCh37 Chromosome 15, 42695170: 42695170
4 CAPN3 NM_000070.2(CAPN3): c.1715G> A (p.Arg572Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434544 GRCh38 Chromosome 15, 42402972: 42402972
5 CAPN3 NM_000070.2(CAPN3): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121434545 GRCh37 Chromosome 15, 42676699: 42676699
6 CAPN3 NM_000070.2(CAPN3): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121434545 GRCh38 Chromosome 15, 42384501: 42384501
7 CAPN3 NM_000070.2(CAPN3): c.257C> T (p.Ser86Phe) single nucleotide variant Pathogenic rs121434546 GRCh37 Chromosome 15, 42652260: 42652260
8 CAPN3 NM_000070.2(CAPN3): c.257C> T (p.Ser86Phe) single nucleotide variant Pathogenic rs121434546 GRCh38 Chromosome 15, 42360062: 42360062
9 CAPN3 NM_000070.2(CAPN3): c.956C> T (p.Pro319Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121434547 GRCh37 Chromosome 15, 42684847: 42684847
10 CAPN3 NM_000070.2(CAPN3): c.956C> T (p.Pro319Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs121434547 GRCh38 Chromosome 15, 42392649: 42392649
11 CAPN3 NM_000070.2(CAPN3): c.2362_2363delAGinsTCATCT (p.Arg788Serfs) indel Pathogenic rs80338804 GRCh37 Chromosome 15, 42703180: 42703181
12 CAPN3 NM_000070.2(CAPN3): c.2362_2363delAGinsTCATCT (p.Arg788Serfs) indel Pathogenic rs80338804 GRCh38 Chromosome 15, 42410982: 42410983
13 CAPN3 NM_000070.2(CAPN3): c.1080G> C (p.Trp360Cys) single nucleotide variant Pathogenic rs267606703 GRCh37 Chromosome 15, 42686504: 42686504
14 CAPN3 NM_000070.2(CAPN3): c.1080G> C (p.Trp360Cys) single nucleotide variant Pathogenic rs267606703 GRCh38 Chromosome 15, 42394306: 42394306
15 CAPN3 NM_000070.2(CAPN3): c.1795dupA (p.Thr599Asnfs) duplication Pathogenic/Likely pathogenic rs80338803 GRCh37 Chromosome 15, 42698136: 42698136
16 CAPN3 NM_000070.2(CAPN3): c.1795dupA (p.Thr599Asnfs) duplication Pathogenic/Likely pathogenic rs80338803 GRCh38 Chromosome 15, 42405938: 42405938
17 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
18 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
19 CAPN3; POMT1 NM_000070.2(CAPN3): c.1469G> A (p.Arg490Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434548 GRCh37 Chromosome 15, 42693953: 42693953
20 CAPN3; POMT1 NM_000070.2(CAPN3): c.1469G> A (p.Arg490Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121434548 GRCh38 Chromosome 15, 42401755: 42401755
21 CAPN3 NM_000070.2(CAPN3): c.946-1G> A single nucleotide variant Pathogenic rs80338801 GRCh37 Chromosome 15, 42684836: 42684836
22 CAPN3 NM_000070.2(CAPN3): c.946-1G> A single nucleotide variant Pathogenic rs80338801 GRCh38 Chromosome 15, 42392638: 42392638
23 CAPN3 NM_000070.2(CAPN3): c.1029+3A> G single nucleotide variant Benign/Likely benign rs28364442 GRCh37 Chromosome 15, 42684923: 42684923
24 CAPN3 NM_000070.2(CAPN3): c.1029+3A> G single nucleotide variant Benign/Likely benign rs28364442 GRCh38 Chromosome 15, 42392725: 42392725
25 CAPN3 NM_000070.2(CAPN3): c.1435A> G (p.Ser479Gly) single nucleotide variant Pathogenic/Likely pathogenic rs201736037 GRCh37 Chromosome 15, 42693919: 42693919
26 CAPN3 NM_000070.2(CAPN3): c.1435A> G (p.Ser479Gly) single nucleotide variant Pathogenic/Likely pathogenic rs201736037 GRCh38 Chromosome 15, 42401721: 42401721
27 CAPN3 NM_000070.2(CAPN3): c.1622G> A (p.Arg541Gln) single nucleotide variant Pathogenic/Likely pathogenic rs398123143 GRCh37 Chromosome 15, 42695077: 42695077
28 CAPN3 NM_000070.2(CAPN3): c.1622G> A (p.Arg541Gln) single nucleotide variant Pathogenic/Likely pathogenic rs398123143 GRCh38 Chromosome 15, 42402879: 42402879
29 CAPN3 NM_000070.2(CAPN3): c.1746-20C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201892814 GRCh37 Chromosome 15, 42695919: 42695919
30 CAPN3 NM_000070.2(CAPN3): c.1746-20C> G single nucleotide variant Conflicting interpretations of pathogenicity rs201892814 GRCh38 Chromosome 15, 42403721: 42403721
31 CAPN3 NM_000070.2(CAPN3): c.2218G> A (p.Gly740Ser) single nucleotide variant Uncertain significance rs398123145 GRCh37 Chromosome 15, 42702819: 42702819
32 CAPN3 NM_000070.2(CAPN3): c.2218G> A (p.Gly740Ser) single nucleotide variant Uncertain significance rs398123145 GRCh38 Chromosome 15, 42410621: 42410621
33 CAPN3 NM_000070.2(CAPN3): c.223dupT (p.Tyr75Leufs) duplication Pathogenic rs398123146 GRCh37 Chromosome 15, 42652226: 42652226
34 CAPN3 NM_000070.2(CAPN3): c.223dupT (p.Tyr75Leufs) duplication Pathogenic rs398123146 GRCh38 Chromosome 15, 42360028: 42360028
35 CAPN3 NM_000070.2(CAPN3): c.2251_2254dupGTCA (p.Asn752Serfs) duplication Pathogenic rs398123147 GRCh37 Chromosome 15, 42702852: 42702855
36 CAPN3 NM_000070.2(CAPN3): c.2251_2254dupGTCA (p.Asn752Serfs) duplication Pathogenic rs398123147 GRCh38 Chromosome 15, 42410654: 42410657
37 CAPN3 NM_000070.2(CAPN3): c.2332G> A (p.Asp778Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs115311625 GRCh37 Chromosome 15, 42703150: 42703150
38 CAPN3 NM_000070.2(CAPN3): c.2332G> A (p.Asp778Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs115311625 GRCh38 Chromosome 15, 42410952: 42410952
39 CAPN3 NM_000070.2(CAPN3): c.2393C> A (p.Ala798Glu) single nucleotide variant Pathogenic/Likely pathogenic rs149095128 GRCh37 Chromosome 15, 42703497: 42703497
40 CAPN3 NM_000070.2(CAPN3): c.2393C> A (p.Ala798Glu) single nucleotide variant Pathogenic/Likely pathogenic rs149095128 GRCh38 Chromosome 15, 42411299: 42411299
41 CAPN3 NM_000070.2(CAPN3): c.318C> T (p.Cys106=) single nucleotide variant Benign/Likely benign rs117609395 GRCh37 Chromosome 15, 42676689: 42676689
42 CAPN3 NM_000070.2(CAPN3): c.318C> T (p.Cys106=) single nucleotide variant Benign/Likely benign rs117609395 GRCh38 Chromosome 15, 42384491: 42384491
43 CAPN3 NM_000070.2(CAPN3): c.479C> G (p.Ala160Gly) single nucleotide variant Benign/Likely benign rs17592 GRCh37 Chromosome 15, 42678464: 42678464
44 CAPN3 NM_000070.2(CAPN3): c.479C> G (p.Ala160Gly) single nucleotide variant Benign/Likely benign rs17592 GRCh38 Chromosome 15, 42386266: 42386266
45 CAPN3 NM_000070.2(CAPN3): c.580delT (p.Ser194Profs) deletion Pathogenic/Likely pathogenic rs398123149 GRCh37 Chromosome 15, 42680032: 42680032
46 CAPN3 NM_000070.2(CAPN3): c.580delT (p.Ser194Profs) deletion Pathogenic/Likely pathogenic rs398123149 GRCh38 Chromosome 15, 42387834: 42387834
47 CAPN3 NM_000070.2(CAPN3): c.62G> A (p.Gly21Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs28364364 GRCh37 Chromosome 15, 42652065: 42652065
48 CAPN3 NM_000070.2(CAPN3): c.62G> A (p.Gly21Glu) single nucleotide variant Conflicting interpretations of pathogenicity rs28364364 GRCh38 Chromosome 15, 42359867: 42359867
49 CAPN3 NM_000070.2(CAPN3): c.706G> A (p.Ala236Thr) single nucleotide variant Benign rs1801449 GRCh37 Chromosome 15, 42681199: 42681199
50 CAPN3 NM_000070.2(CAPN3): c.706G> A (p.Ala236Thr) single nucleotide variant Benign rs1801449 GRCh38 Chromosome 15, 42389001: 42389001

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

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1.

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

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 9.26 MIR134 MIR148A MIR21 MIR381
2 micro-ribonucleoprotein complex GO:0035068 9.1 MIR134 MIR148A MIR154 MIR21 MIR381 MIR382

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

# Name GO ID Score Top Affiliating Genes
1 miRNA mediated inhibition of translation GO:0035278 9.13 MIR134 MIR148A MIR21
2 gene silencing by miRNA GO:0035195 9.1 MIR134 MIR148A MIR154 MIR21 MIR381 MIR382

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 8.8 MIR134 MIR148A MIR21

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

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