LGMDR1
MCID: MSC169
MIFTS: 48

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

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 58 76
Calpainopathy 58 39 25 54 76 38
Lgmd2a 58 54 76 56
Muscular Dystrophy, Limb-Girdle, Type 2a 58 76 13
Muscular Dystrophy, Pelvofemoral 58 54 76
Lgmd2 58 54 76
Muscular Dystrophy, Limb-Girdle, Type 2 58 76
Limb-Girdle Muscular Dystrophy, Type 2a 30 6
Leyden-Moebius Muscular Dystrophy 58 54
Lgmdr1 58 76
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 54
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 54
Muscular Dystrophy, Limb-Girdle, Type 2a; Lgmd2a 58
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 54
Muscular Dystrophy, Limb-Girdle, Type 2; Lgmd2 58
Dystrophy, Muscular, Limb-Girdle, Type 2a 41
Muscular Dystrophy, Limb-Girdle, Type 2s 54
Limb-Girdle Muscular Dystrophy Type 2a 54
Limb-Girdle Muscular Dystrophy Type 2e 54
Limb-Girdle Muscular Dystrophy Type 2s 54
Limb-Girdle Muscular Dystrophy Type 2 54
Leyden-Moebious Muscular Dystrophy 76
Limb-Girdle Muscular Dystrophy 2a 76
Lgmd2e 54
Lgmd2s 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
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

NIH Rare Diseases : 54 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 inclusion body myositis and muscular dystrophy, duchenne type. An important gene associated with Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 is CAPN3 (Calpain 3). The drugs Deflazacort and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include heart, skeletal muscle and liver, and related phenotypes are facial palsy and flexion contracture

OMIM : 58 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 : 76 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.

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
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

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

(show all 49)
# Related Disease Score Top Affiliating Genes
1 inclusion body myositis 29.7 MIR21 MIR381
2 muscular dystrophy, duchenne type 29.7 MIR134 MIR148A MIR154 MIR21
3 muscular dystrophy limb girdle type 2a, erb type 12.6
4 myopathy, autosomal recessive, with rigid spine and distal joint contractures 12.1
5 muscular dystrophy, limb-girdle, autosomal recessive 4 11.8
6 autosomal recessive limb-girdle muscular dystrophy type 2a 11.7
7 muscular dystrophy, limb-girdle, autosomal dominant 2 11.7
8 muscular dystrophy, limb-girdle, autosomal recessive 25 11.1
9 muscular dystrophy, limb-girdle, autosomal recessive 3 11.1
10 muscular dystrophy, limb-girdle, autosomal recessive 17 11.1
11 muscular dystrophy, limb-girdle, autosomal recessive 18 11.1
12 muscular dystrophy, limb-girdle, autosomal recessive 21 11.1
13 muscular dystrophy, limb-girdle, autosomal recessive 23 11.1
14 isolated hyperckemia 10.4
15 cardiac arrest 10.3
16 epilepsy 10.3
17 muscular dystrophy 10.3
18 muscular dystrophy, becker type 10.3
19 limb-girdle muscular dystrophy 10.2
20 myositis 10.2
21 autosomal recessive limb-girdle muscular dystrophy 10.2
22 dilated cardiomyopathy 10.1
23 facioscapulohumeral muscular dystrophy 1 10.1 MIR154 MIR21
24 muscular dystrophy, limb-girdle, autosomal recessive 6 10.1
25 muscular dystrophy-dystroglycanopathy , type c, 1 10.1
26 walker-warburg syndrome 10.1
27 nonalcoholic fatty liver disease 10.1 MIR154 MIR21
28 facioscapulohumeral muscular dystrophy 2 10.0
29 muscular dystrophy, limb-girdle, autosomal recessive 2 10.0
30 muscular dystrophy, limb-girdle, autosomal recessive 7 10.0
31 spinal muscular atrophy 10.0
32 miyoshi muscular dystrophy 10.0
33 myopathy 10.0
34 dysferlinopathy 10.0
35 proximal spinal muscular atrophy 10.0
36 bethlem myopathy 1 10.0
37 mcleod syndrome 10.0
38 muscular dystrophy, limb-girdle, autosomal dominant 4 10.0
39 muscle disorders 10.0
40 foot drop 10.0
41 pancreatic ductal adenocarcinoma 10.0 MIR148A MIR21
42 polymyositis 10.0 MIR21 MIR382
43 nemaline myopathy 9.9 MIR134 MIR382
44 cholangiocarcinoma 9.8 MIR148A MIR21
45 psoriasis 9.7 MIR21 MIR381
46 autism spectrum disorder 9.7 MIR21 MIR381
47 miyoshi muscular dystrophy 1 9.5 MIR148A MIR381 MIR382
48 dermatomyositis 9.3 MIR154 MIR21 MIR381 MIR382
49 ovarian cancer 9.2 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

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

33 (show all 10)
# Description HPO Frequency HPO Source Accession
1 facial palsy 33 occasional (7.5%) HP:0010628
2 flexion contracture 33 HP:0001371
3 scapular winging 33 HP:0003691
4 clumsiness 33 HP:0002312
5 difficulty walking 33 HP:0002355
6 muscular dystrophy 33 HP:0003560
7 proximal amyotrophy 33 HP:0007126
8 eosinophilia 33 HP:0001880
9 myositis 33 HP:0100614
10 elevated serum creatine kinase 33 HP:0003236

Symptoms via clinical synopsis from OMIM:

58
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

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

Drugs for Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 19)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Deflazacort Approved, Investigational Phase 2, Phase 3,Phase 3 14484-47-0
2
Lisinopril Approved, Investigational Phase 2, Phase 3 83915-83-7, 76547-98-3 5362119
3
Coenzyme Q10 Approved, Investigational, Nutraceutical Phase 2, Phase 3 303-98-0 5281915
4 Immunologic Factors Phase 2, Phase 3,Phase 3
5 Anti-Inflammatory Agents Phase 2, Phase 3,Phase 3
6 Immunosuppressive Agents Phase 2, Phase 3,Phase 3
7 Antihypertensive Agents Phase 2, Phase 3
8 Nutrients Phase 2, Phase 3
9 HIV Protease Inhibitors Phase 2, Phase 3
10
protease inhibitors Phase 2, Phase 3
11 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
12 Cardiotonic Agents Phase 2, Phase 3
13 Trace Elements Phase 2, Phase 3
14 Vitamins Phase 2, Phase 3
15 Protective Agents Phase 2, Phase 3
16 Ubiquinone Phase 2, Phase 3
17 Micronutrients Phase 2, Phase 3
18 Tin Fluorides Phase 1, Phase 2
19 Vaccines Phase 1

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 Deflazacort in Dysferlinopathies Completed NCT00527228 Phase 2, Phase 3 deflazacort;placebo
2 Clinical Trial of Coenzyme Q10 and Lisinopril in Muscular Dystrophies Completed NCT01126697 Phase 2, Phase 3 Coenzyme Q10 and Lisinopril
3 A Study of Deflazacort (Emflaza®) in Participants With Limb-Girdle Muscular Dystrophy 2I (LGMD2I) Not yet recruiting NCT03783923 Phase 3 Deflazacort;Placebo
4 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
5 Gene Transfer Clinical Trial for LGMD2E (Beta-sarcoglycan Deficiency) Using scAAVrh74.MHCK7.hSGCB Recruiting NCT03652259 Phase 1, Phase 2 scAAVrh74.MHCK7.hSGCB
6 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Active, not recruiting NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
7 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
8 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
9 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
10 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
11 Clinical Outcome Study for Dysferlinopathy Unknown status NCT01676077
12 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
13 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
14 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
15 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
16 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
17 Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
18 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
19 Limb-Girdle Muscular Dystrophy Type 2I in Norway Not yet recruiting NCT03930628
20 Natural History Study of Patients With Limb-Girdle Muscular Dystrophy 2I Not yet recruiting NCT03842878

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 30 CAPN3

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

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

42
Heart, Skeletal Muscle, Liver

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

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

(show top 50) (show all 75)
# 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
Calcium dysregulation, functional calpainopathy, and endoplasmic reticulum stress in sporadic inclusion body myositis. ( 28330496 )
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
Molecular Diagnosis of Limb-girdle Muscular Dystrophy Type 2A by Next-generation Sequencing. ( 28615910 )
2017
8
Human growth hormone stabilizes walking and improves strength in a patient with dominantly inherited calpainopathy. ( 28190647 )
2017
9
Calpainopathy with macrophage-rich, regional inflammatory infiltrates. ( 28602176 )
2017
10
Left ventricular deformation abnormalities in a patient with calpainopathy-a case from the three-dimensional speckle-tracking echocardiographic MAGYAR-Path Study. ( 29312873 )
2017
11
Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy). ( 27005420 )
2016
12
Report of limb girdle muscular dystrophy type 2a in 6 Iranian patients, one with a novel deletion in CAPN3 gene. ( 27020652 )
2016
13
Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A. ( 27861222 )
2016
14
Limb-Girdle Muscular Dystrophy Type 2A Resulting From c.C479G and c.G1818A Mutations in the Calpain-3 Gene. ( 26583491 )
2015
15
Limb-girdle muscular dystrophy type 2A in Brazilian children. ( 26677118 )
2015
16
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls. ( 25900067 )
2015
17
Limb-girdle weakness in a marfanoid man: distinguishing calpainopathy from Becker's muscular dystrophy. ( 25573340 )
2015
18
Evaluation of heart involvement in calpainopathy (LGMD2A) using cardiovascular magnetic resonance. ( 26032656 )
2015
19
Limb-girdle muscular dystrophy type 2a with mutation in CAPN3: the first report in Taiwan. ( 23597518 )
2015
20
Entire CAPN3 gene deletion in a patient with limb-girdle muscular dystrophy type 2A. ( 24715573 )
2014
21
Oxidative stress, NF-κB and the ubiquitin proteasomal pathway in the pathology of calpainopathy. ( 23846623 )
2013
22
A cardiomyopathy in a patient with limb girdle muscular dystrophy type 2A. ( 23322878 )
2013
23
Late-onset axial myopathy and camptocormia in a calpainopathy carrier. ( 22622166 )
2012
24
Genetic variability and clinical spectrum of Chinese patients with limb-girdle muscular dystrophy type 2A. ( 22926650 )
2012
25
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy? ( 21204801 )
2011
26
Clinical and pathological features in 15 Chinese patients with calpainopathy. ( 21321956 )
2011
27
The clinical course of calpainopathy (LGMD2A) and dysferlinopathy (LGMD2B). ( 20092694 )
2010
28
Calpainopathy presenting as foot drop in a 41 year old. ( 20580976 )
2010
29
Limb-girdle muscular dystrophy type 2A. ( 20739783 )
2010
30
Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation. ( 20739790 )
2010
31
[Clinical-genetic characteristics of limb girdle-muscular dystrophy type 2A]. ( 20517216 )
2010
32
Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene. ( 21386772 )
2010
33
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3. ( 19226146 )
2009
34
A proteomic study of calpain-3 and its involvement in limb girdle muscular dystrophy type 2a. ( 19926129 )
2009
35
Eosinophilic myositis in calpainopathy: could immunosuppression of the eosinophilic myositis alter the early natural course of the dystrophic disease? ( 19285864 )
2009
36
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
37
Phenotypic variability in siblings with calpainopathy (LGMD2A). ( 19364062 )
2008
38
Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A). ( 16934440 )
2007
39
A large deletion and novel point mutations in the calpain 3 gene (CAPN3) in Bulgarian LGMD2A patients. ( 17318636 )
2007
40
A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. ( 17594342 )
2007
41
Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A. ( 17526799 )
2007
42
Characterization of lobulated fibers in limb girdle muscular dystrophy type 2A by gene expression profiling. ( 17258832 )
2007
43
CAPN3 mutations in patients with idiopathic eosinophilic myositis. ( 16607617 )
2006
44
Safety and efficacy of AAV-mediated calpain 3 gene transfer in a mouse model of limb-girdle muscular dystrophy type 2A. ( 16290124 )
2006
45
Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype? ( 16816913 )
2006
46
Calpainopathy and eosinophilic myositis. ( 16718709 )
2006
47
Early onset calpainopathy with normal non-functional calpain 3 level. ( 16542520 )
2006
48
A family with McLeod syndrome and calpainopathy with clinically overlapping diseases. ( 16344536 )
2005
49
Calpainopathy (LGMD2A) in Croatia: molecular and haplotype analysis. ( 16100770 )
2005
50
The frequency of limb girdle muscular dystrophy 2A in northeastern Italy. ( 15725583 )
2005

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

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

76 (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 639)
# 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 rs1555423217 GRCh37 Chromosome 15, 42703180: 42703181
12 CAPN3 NM_000070.2(CAPN3): c.2362_2363delAGinsTCATCT (p.Arg788Serfs) indel Pathogenic rs1555423217 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_000070.3(CAPN3): c.549delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
18 CAPN3; SGCB NM_000070.3(CAPN3): c.549delA (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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