MCID: MSC121
MIFTS: 58

Muscular Dystrophy, Limb-Girdle, Type 2a

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

Aliases & Classifications for Muscular Dystrophy, Limb-Girdle, Type 2a

MalaCards integrated aliases for Muscular Dystrophy, Limb-Girdle, Type 2a:

Name: Muscular Dystrophy, Limb-Girdle, Type 2a 57 12 13
Calpainopathy 57 38 24 53 75 37
Lgmd2a 57 12 53 59 75 55
Lgmd2e 57 53 59 75 55
Muscular Dystrophy, Limb-Girdle, Type 2y 57 75 29 6
Lgmd2s 57 53 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 12 59 15
Muscular Dystrophy, Limb-Girdle, Type 2s 57 53 73
Limb-Girdle Muscular Dystrophy, Type 2e 29 6 73
Leyden-Moebius Muscular Dystrophy 57 12 53
Lgmd2y 57 59 75
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 53 59
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency 12 59
Muscular Dystrophy, Limb-Girdle, Type 2e 57 13
Limb-Girdle Muscular Dystrophy, Type 2a 29 6
Limb-Girdle Muscular Dystrophy, Type 2s 29 6
Limb-Girdle Muscular Dystrophy Type 2a 53 73
Muscular Dystrophy, Pelvofemoral 57 53
Beta-Sarcoglycanopathy 59 73
Primary Calpainopathy 12 59
Lgmd2 57 53
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency 59
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine 59
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 59
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 53
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency 59
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 59
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y 59
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 53
Muscular Dystrophy, Limb-Girdle, Type 2; Lgmd2 57
Dystrophy, Muscular, Limb-Girdle, Type 2a 40
Dystrophy, Muscular, Limb-Girdle, Type 2e 40
Dystrophy, Muscular, Limb-Girdle, Type 2s 40
Muscular Dystrophy, Limb-Girdle, Type 2 57
Limb-Girdle Muscular Dystrophy Type 2e 53
Limb-Girdle Muscular Dystrophy Type 2s 53
Limb-Girdle Muscular Dystrophy Type 2 53
Limb-Girdle Muscular Dystrophy 2a 75
Limb-Girdle Muscular Dystrophy 2e 75
Limb-Girdle Muscular Dystrophy 2s 75
Limb-Girdle Muscular Dystrophy 2y 75
Pelvofemoral Muscular Dystrophy 12
Muscular Dystrophy Pelvofemoral 75

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;
autosomal recessive limb-girdle muscular dystrophy type 2s
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;
autosomal recessive limb-girdle muscular dystrophy type 2y
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood;
autosomal recessive limb-girdle muscular dystrophy type 2e
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United Kingdom),<1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult;

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, type 2s:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance

muscular dystrophy, limb-girdle, type 2y:
Onset and clinical course slow progression
Inheritance autosomal recessive inheritance

muscular dystrophy, limb-girdle, type 2e:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance

muscular dystrophy, limb-girdle, type 2a:
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


Summaries for Muscular Dystrophy, Limb-Girdle, Type 2a

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. Limb-girdle muscular dystrophy 2E: An autosomal recessive degenerative myopathy characterized by pelvic and shoulder muscle wasting, onset usually in childhood and variable progression rate. Limb-girdle muscular dystrophy 2S: A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness with childhood onset, resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay. Limb-girdle muscular dystrophy 2Y: An autosomal recessive form of limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMD2Y is characterized by muscle weakness initially involving the proximal lower limbs, followed by distal upper and lower limb muscle weakness and atrophy. Other features include joint contractures, rigid spine, and restricted pulmonary function. Cardiac involvement has been observed in some patients. Disease onset is in the first or second decades of life.

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2a, also known as calpainopathy, is related to autosomal recessive limb-girdle muscular dystrophy type 2e and limb-girdle muscular dystrophy, and has symptoms including ataxia, athetosis and muscle cramp. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2a is CAPN3 (Calpain 3), and among its related pathways/superpathways are MicroRNAs in cancer and Cell Differentiation - Index. The drugs Deflazacort and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include heart and skeletal muscle, and related phenotypes are intellectual disability and seizures

OMIM : 57 LGMD2A is an autosomal recessive form of muscular dystrophy primarily affecting 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)

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 (LGMD2A) 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.

Disease Ontology : 12 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15.

GeneReviews: NBK1313

Related Diseases for Muscular Dystrophy, Limb-Girdle, Type 2a

Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 1b
Muscular Dystrophy, Limb-Girdle, Type 2a Muscular Dystrophy, Limb-Girdle, Type 2b
Muscular Dystrophy, Limb-Girdle, Type 2c Muscular Dystrophy, Limb-Girdle, Type 2h
Muscular Dystrophy, Limb-Girdle, Type 2f Muscular Dystrophy, Limb-Girdle, Type 2g
Muscular Dystrophy, Limb-Girdle, Type 1e Muscular Dystrophy, Limb-Girdle, Type 1c
Muscular Dystrophy, Limb-Girdle, Type 2d Muscular Dystrophy, Limb-Girdle, Type 1f
Muscular Dystrophy, Limb-Girdle, Type 2j Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 2l Muscular Dystrophy, Limb-Girdle, Type 1h
Muscular Dystrophy, Limb-Girdle, Type 2q Muscular Dystrophy, Limb-Girdle, Type 2r
Muscular Dystrophy, Limb-Girdle, Type 2x Muscular Dystrophy, Limb-Girdle, Type 2w
Muscular Dystrophy, Limb-Girdle, Type 2z Autosomal Dominant Limb-Girdle Muscular Dystrophy
Autosomal Recessive Limb-Girdle Muscular Dystrophy Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g

Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2a via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 autosomal recessive limb-girdle muscular dystrophy type 2e 32.5 CAPN3 SGCB TRAPPC11
2 limb-girdle muscular dystrophy 31.1 CAPN3 SGCB TRAPPC11
3 dysferlinopathy 31.0 CAPN3 TOR1AIP1
4 muscular dystrophy 30.6 CAPN3 SGCB TOR1AIP1 TRAPPC11
5 muscular dystrophy limb girdle type 2a, erb type 12.4
6 autosomal recessive limb-girdle muscular dystrophy type 2f 10.9 CAPN3 SGCB
7 muscular dystrophy, limb-girdle, type 2q 10.9
8 muscular dystrophy, limb-girdle, type 2x 10.9
9 muscular dystrophy, limb-girdle, type 2w 10.9
10 muscular dystrophy, limb-girdle, type 2z 10.9
11 muscular dystrophy, limb-girdle, type 2d 10.8 CAPN3 SGCB
12 muscular dystrophy, limb-girdle, type 2f 10.7 CAPN3 SGCB
13 muscular dystrophy, limb-girdle, type 2b 10.7 CAPN3 SGCB
14 leiomyoma, uterine 10.5 MIR335 MIR34A
15 nonalcoholic fatty liver disease 10.3 MIR130A MIR154 MIR34A
16 muscular dystrophy, becker type 10.3 MIR146B MIR221
17 ovarian serous carcinoma 10.2 MIR214 MIRLET7B
18 pancreatic ductal adenocarcinoma 10.1 MIR148A MIR148B MIR221 MIR223
19 leukemia, chronic lymphocytic 10.0 MIR154 MIR221 MIR223 MIR34A
20 oral squamous cell carcinoma 9.9 MIR148A MIR148B MIR221 MIR223 MIR34A
21 ovarian epithelial cancer 9.9 MIR376A1 MIR376C
22 autosomal recessive limb-girdle muscular dystrophy 9.9
23 distal muscular dystrophy 9.9
24 myopathy 9.9
25 glioma 9.8 MIR146B MIR221 MIR222 MIR34A
26 miyoshi muscular dystrophy 1 9.8 MIR335 MIR34A MIR362 MIR376A1 MIR376C
27 squamous cell carcinoma, head and neck 9.7 MIR146B MIR148A MIR148B MIR214 MIR221
28 polymyositis 9.6 MIR130A MIR146B MIR222 MIR362
29 glioblastoma 9.5 MIR130A MIR221 MIR222 MIR34A
30 gastric cancer 9.5 MIR214 MIR221 MIR222 MIR223 MIR34A
31 inclusion body myositis 9.3 MIR146B MIR214 MIR221 MIR222 MIR223 MIR34A
32 myeloma, multiple 9.2 MIR335 MIR99B MIRLET7B
33 thyroid cancer, nonmedullary, 1 9.2 MIR146B MIR221 MIR222 MIR34A MIRLET7B
34 melanoma 9.2 MIR154 MIR221 MIR222 MIR34A MIRLET7B
35 ovarian cancer 9.2 MIR146B MIR214 MIR221 MIR222 MIR223 MIR335
36 leukemia, acute lymphoblastic 8.7 MIR130A MIR221 MIR222 MIR223 MIR335 MIRLET7B
37 pancreatic cancer 8.7 MIR148A MIR148B MIR214 MIR221 MIR222 MIR223
38 leukemia, acute myeloid 8.7 MIR130A MIR221 MIR222 MIR223 MIR335 MIRLET7B
39 muscular dystrophy, duchenne type 8.5 MIR146B MIR148A MIR154 MIR221 MIR222 MIR335
40 prostate cancer 7.9 MIR148A MIR214 MIR221 MIR222 MIR223 MIR34A
41 hepatocellular carcinoma 7.7 MIR130A MIR148A MIR148B MIR214 MIR221 MIR222
42 lung cancer 7.7 MIR130A MIR146B MIR148A MIR214 MIR221 MIR222
43 facioscapulohumeral muscular dystrophy 1 7.4 MIR146B MIR154 MIR214 MIR221 MIR222 MIR335
44 dermatomyositis 7.1 MIR146B MIR148A MIR148B MIR154 MIR214 MIR221

Graphical network of the top 20 diseases related to Muscular Dystrophy, Limb-Girdle, Type 2a:



Diseases related to Muscular Dystrophy, Limb-Girdle, Type 2a

Symptoms & Phenotypes for Muscular Dystrophy, Limb-Girdle, Type 2a

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 604286 615356 617072

Human phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2a:

32 (show all 48)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 occasional (7.5%) HP:0001250
3 ataxia 32 HP:0001251
4 tremor 32 HP:0001337
5 chorea 32 HP:0002072
6 scoliosis 32 HP:0002650
7 hyperlordosis 32 HP:0003307
8 facial palsy 32 occasional (7.5%) HP:0010628
9 cataract 32 HP:0000518
10 global developmental delay 32 HP:0001263
11 hip dysplasia 32 HP:0001385
12 hepatomegaly 32 occasional (7.5%) HP:0002240
13 microcephaly 32 HP:0000252
14 short stature 32 HP:0004322
15 flexion contracture 32 HP:0001371
16 elevated serum creatine phosphokinase 32 occasional (7.5%) HP:0003236
17 strabismus 32 HP:0000486
18 hepatic steatosis 32 occasional (7.5%) HP:0001397
19 elevated hepatic transaminases 32 occasional (7.5%) HP:0002910
20 myopia 32 HP:0000545
21 dystonia 32 HP:0001332
22 inability to walk 32 HP:0002540
23 scapular winging 32 HP:0003691
24 myalgia 32 HP:0003326
25 achalasia 32 occasional (7.5%) HP:0002571
26 muscle cramps 32 HP:0003394
27 clumsiness 32 HP:0002312
28 difficulty walking 32 HP:0002355
29 spinal rigidity 32 HP:0003306
30 cerebellar atrophy 32 occasional (7.5%) HP:0001272
31 muscular dystrophy 32 HP:0003560
32 dilated cardiomyopathy 32 occasional (7.5%) HP:0001644
33 eosinophilia 32 HP:0001880
34 alacrima 32 occasional (7.5%) HP:0000522
35 proximal amyotrophy 32 HP:0007126
36 athetosis 32 HP:0002305
37 generalized hypotonia 32 HP:0001290
38 cns hypomyelination 32 occasional (7.5%) HP:0003429
39 waddling gait 32 HP:0002515
40 poor speech 32 HP:0002465
41 ankle contracture 32 HP:0006466
42 increased endomysial connective tissue 32 HP:0100297
43 shoulder girdle muscle atrophy 32 HP:0003724
44 calf muscle pseudohypertrophy 32 HP:0003707
45 gowers sign 32 HP:0003391
46 limb-girdle muscular dystrophy 32 HP:0006785
47 pelvic girdle muscle atrophy 32 HP:0008988
48 limb-girdle muscle weakness 32 HP:0003325

UMLS symptoms related to Muscular Dystrophy, Limb-Girdle, Type 2a:


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

Drugs & Therapeutics for Muscular Dystrophy, Limb-Girdle, Type 2a

Drugs for Muscular Dystrophy, Limb-Girdle, Type 2a (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 16)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Deflazacort Approved, Investigational Phase 2, 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 Anti-Inflammatory Agents Phase 2, Phase 3
5 Immunosuppressive Agents Phase 2, Phase 3
6 Angiotensin-Converting Enzyme Inhibitors Phase 2, Phase 3
7 Antihypertensive Agents Phase 2, Phase 3
8 HIV Protease Inhibitors Phase 2, Phase 3
9 Micronutrients Phase 2, Phase 3
10
protease inhibitors Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3
12 Trace Elements Phase 2, Phase 3
13 Ubiquinone Phase 2, Phase 3
14 Vitamins Phase 2, Phase 3
15 Tin Fluorides Phase 1, Phase 2
16 Vaccines Phase 1

Interventional clinical trials:

(show all 16)
# 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 The Safety and Biological Activity of ATYR1940 in Patients With Limb Girdle or Facioscapulohumeral Muscular Dystrophies Completed NCT02579239 Phase 1, Phase 2
4 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Active, not recruiting NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
5 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
6 Gene Transfer Therapy for Treating Children and Adults With Limb Girdle Muscular Dystrophy Type 2D (LGMD2D) Completed NCT00494195 Phase 1
7 Clinical Study of AAV1-gamma-sarcoglycan Gene Therapy for Limb Girdle Muscular Dystrophy Type 2C Completed NCT01344798 Phase 1
8 rAAVrh74.MHCK7.DYSF.DV for Treatment of Dysferlinopathies Active, not recruiting NCT02710500 Phase 1 rAAVrh74.MHCK7.DYSF.DV
9 Muscle MRI in Becker Muscular Dystrophy and in Limb-girdle Muscular Dystrophy Type 2I Completed NCT02165358
10 MRI on Persons With Mutations in POMT2 Gene (LGMD2N) Completed NCT02759302
11 MRI and Muscle Involvement in Patients With Mutations in GMPPB Completed NCT02635321
12 Evaluation of Limb-Girdle Muscular Dystrophy Completed NCT00893334
13 Limb Girdle Muscular Dystrophy Type 2E Recruitment Study Recruiting NCT03492346
14 Natural History of Limb Girdle Muscular Dystrophy Type 2A and Type 2E Recruiting NCT03488784
15 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
16 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077

Search NIH Clinical Center for Muscular Dystrophy, Limb-Girdle, Type 2a

Genetic Tests for Muscular Dystrophy, Limb-Girdle, Type 2a

Genetic tests related to Muscular Dystrophy, Limb-Girdle, Type 2a:

# Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2a 29 CAPN3
2 Limb-Girdle Muscular Dystrophy, Type 2e 29 SGCB
3 Limb-Girdle Muscular Dystrophy, Type 2s 29 TRAPPC11
4 Muscular Dystrophy, Limb-Girdle, Type 2y 29 TOR1AIP1

Anatomical Context for Muscular Dystrophy, Limb-Girdle, Type 2a

MalaCards organs/tissues related to Muscular Dystrophy, Limb-Girdle, Type 2a:

41
Heart, Skeletal Muscle

Publications for Muscular Dystrophy, Limb-Girdle, Type 2a

Articles related to Muscular Dystrophy, Limb-Girdle, Type 2a:

# Title Authors Year
1
Morphological and functional analyses of skeletal muscles from an immunodeficient animal model of limb-girdle muscular dystrophy type 2E. ( 29476695 )
2018
2
Limb Girdle Muscular Dystrophy Type 2E Due to a Novel Large Deletion in SGCB Gene. ( 28883879 )
2017
3
A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping. ( 27276190 )
2016
4
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E. ( 25862795 )
2015
5
Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. ( 20071171 )
2010
6
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. ( 16088906 )
2005
7
Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. ( 10678176 )
2000
8
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). ( 8968749 )
1996

Variations for Muscular Dystrophy, Limb-Girdle, Type 2a

UniProtKB/Swiss-Prot genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2a:

75 (show top 50) (show all 66)
# 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
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, Type 2a:

6
(show top 50) (show all 716)
# Gene Variation Type Significance SNP ID Assembly Location
1 SGCB NM_000232.4(SGCB): c.452C> G (p.Thr151Arg) single nucleotide variant Pathogenic rs28936383 GRCh37 Chromosome 4, 52895065: 52895065
2 SGCB NM_000232.4(SGCB): c.452C> G (p.Thr151Arg) single nucleotide variant Pathogenic rs28936383 GRCh38 Chromosome 4, 52028899: 52028899
3 SGCB NM_000232.4(SGCB): c.552T> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs104893868 GRCh37 Chromosome 4, 52894965: 52894965
4 SGCB NM_000232.4(SGCB): c.552T> G (p.Tyr184Ter) single nucleotide variant Likely pathogenic rs104893868 GRCh38 Chromosome 4, 52028799: 52028799
5 SGCB SGCB, 8-BP DUP, NT383 duplication Pathogenic
6 SGCB SGCB, 2-BP DEL, NT465 deletion Pathogenic
7 SGCB NM_000232.4(SGCB): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
8 SGCB NM_000232.4(SGCB): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893869 GRCh38 Chromosome 4, 52029835: 52029835
9 SGCB NM_000232.4(SGCB): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic rs104893870 GRCh37 Chromosome 4, 52895950: 52895950
10 SGCB NM_000232.4(SGCB): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic rs104893870 GRCh38 Chromosome 4, 52029784: 52029784
11 SGCB NM_000232.4(SGCB): c.299T> A (p.Met100Lys) single nucleotide variant Pathogenic rs104893871 GRCh37 Chromosome 4, 52895974: 52895974
12 SGCB NM_000232.4(SGCB): c.299T> A (p.Met100Lys) single nucleotide variant Pathogenic rs104893871 GRCh38 Chromosome 4, 52029808: 52029808
13 SGCB NM_000232.4(SGCB): c.272G> T (p.Arg91Leu) single nucleotide variant Likely pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
14 SGCB NM_000232.4(SGCB): c.272G> T (p.Arg91Leu) single nucleotide variant Likely pathogenic rs104893869 GRCh38 Chromosome 4, 52029835: 52029835
15 SGCB SGCB, 4-BP DEL, 243+3GAGT deletion Pathogenic
16 CAPN3 NM_000070.2(CAPN3): c.2306G> A (p.Arg769Gln) single nucleotide variant Pathogenic rs80338802 GRCh37 Chromosome 15, 42703124: 42703124
17 CAPN3 NM_000070.2(CAPN3): c.2306G> A (p.Arg769Gln) single nucleotide variant Pathogenic rs80338802 GRCh38 Chromosome 15, 42410926: 42410926
18 CAPN3 NM_000070.2(CAPN3): c.1715G> A (p.Arg572Gln) single nucleotide variant Pathogenic rs121434544 GRCh37 Chromosome 15, 42695170: 42695170
19 CAPN3 NM_000070.2(CAPN3): c.1715G> A (p.Arg572Gln) single nucleotide variant Pathogenic rs121434544 GRCh38 Chromosome 15, 42402972: 42402972
20 CAPN3 NM_000070.2(CAPN3): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121434545 GRCh37 Chromosome 15, 42676699: 42676699
21 CAPN3 NM_000070.2(CAPN3): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121434545 GRCh38 Chromosome 15, 42384501: 42384501
22 CAPN3 NM_000070.2(CAPN3): c.257C> T (p.Ser86Phe) single nucleotide variant Pathogenic rs121434546 GRCh37 Chromosome 15, 42652260: 42652260
23 CAPN3 NM_000070.2(CAPN3): c.257C> T (p.Ser86Phe) single nucleotide variant Pathogenic rs121434546 GRCh38 Chromosome 15, 42360062: 42360062
24 CAPN3 NM_000070.2(CAPN3): c.956C> T (p.Pro319Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434547 GRCh37 Chromosome 15, 42684847: 42684847
25 CAPN3 NM_000070.2(CAPN3): c.956C> T (p.Pro319Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434547 GRCh38 Chromosome 15, 42392649: 42392649
26 CAPN3 NM_000070.2(CAPN3): c.2362_2363delAGinsTCATCT (p.Arg788Serfs) indel Pathogenic rs80338804 GRCh37 Chromosome 15, 42703180: 42703181
27 CAPN3 NM_000070.2(CAPN3): c.2362_2363delAGinsTCATCT (p.Arg788Serfs) indel Pathogenic rs80338804 GRCh38 Chromosome 15, 42410982: 42410983
28 CAPN3 NM_000070.2(CAPN3): c.1080G> C (p.Trp360Cys) single nucleotide variant Pathogenic rs267606703 GRCh37 Chromosome 15, 42686504: 42686504
29 CAPN3 NM_000070.2(CAPN3): c.1080G> C (p.Trp360Cys) single nucleotide variant Pathogenic rs267606703 GRCh38 Chromosome 15, 42394306: 42394306
30 CAPN3 NM_000070.2(CAPN3): c.1795dupA (p.Thr599Asnfs) duplication Pathogenic/Likely pathogenic rs80338803 GRCh37 Chromosome 15, 42698136: 42698136
31 CAPN3 NM_000070.2(CAPN3): c.1795dupA (p.Thr599Asnfs) duplication Pathogenic/Likely pathogenic rs80338803 GRCh38 Chromosome 15, 42405938: 42405938
32 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
33 CAPN3; SGCB NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh38 Chromosome 15, 42387804: 42387804
34 CAPN3; POMT1 NM_000070.2(CAPN3): c.1469G> A (p.Arg490Gln) single nucleotide variant Pathogenic rs121434548 GRCh37 Chromosome 15, 42693953: 42693953
35 CAPN3; POMT1 NM_000070.2(CAPN3): c.1469G> A (p.Arg490Gln) single nucleotide variant Pathogenic rs121434548 GRCh38 Chromosome 15, 42401755: 42401755
36 CAPN3 NM_000070.2(CAPN3): c.946-1G> A single nucleotide variant Pathogenic rs80338801 GRCh37 Chromosome 15, 42684836: 42684836
37 CAPN3 NM_000070.2(CAPN3): c.946-1G> A single nucleotide variant Pathogenic rs80338801 GRCh38 Chromosome 15, 42392638: 42392638
38 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh37 Chromosome 4, 52895932: 52895932
39 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic/Likely pathogenic rs150518260 GRCh38 Chromosome 4, 52029766: 52029766
40 TRAPPC11 NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg) single nucleotide variant Pathogenic rs397509417 GRCh37 Chromosome 4, 184622936: 184622936
41 TRAPPC11 NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg) single nucleotide variant Pathogenic rs397509417 GRCh38 Chromosome 4, 183701783: 183701783
42 TRAPPC11 NM_021942.5(TRAPPC11): c.1287+5G> A single nucleotide variant Pathogenic rs397509418 GRCh37 Chromosome 4, 184605212: 184605212
43 TRAPPC11 NM_021942.5(TRAPPC11): c.1287+5G> A single nucleotide variant Pathogenic rs397509418 GRCh38 Chromosome 4, 183684059: 183684059
44 CAPN3 NM_000070.2(CAPN3): c.1435A> G (p.Ser479Gly) single nucleotide variant Pathogenic/Likely pathogenic rs201736037 GRCh37 Chromosome 15, 42693919: 42693919
45 CAPN3 NM_000070.2(CAPN3): c.1435A> G (p.Ser479Gly) single nucleotide variant Pathogenic/Likely pathogenic rs201736037 GRCh38 Chromosome 15, 42401721: 42401721
46 CAPN3 NM_000070.2(CAPN3): c.1622G> A (p.Arg541Gln) single nucleotide variant Likely pathogenic rs398123143 GRCh37 Chromosome 15, 42695077: 42695077
47 CAPN3 NM_000070.2(CAPN3): c.1622G> A (p.Arg541Gln) single nucleotide variant Likely pathogenic rs398123143 GRCh38 Chromosome 15, 42402879: 42402879
48 CAPN3 NM_000070.2(CAPN3): c.223dupT (p.Tyr75Leufs) duplication Pathogenic rs398123146 GRCh37 Chromosome 15, 42652226: 42652226
49 CAPN3 NM_000070.2(CAPN3): c.223dupT (p.Tyr75Leufs) duplication Pathogenic rs398123146 GRCh38 Chromosome 15, 42360028: 42360028
50 CAPN3 NM_000070.2(CAPN3): c.2251_2254dupGTCA (p.Asn752Serfs) duplication Pathogenic rs398123147 GRCh37 Chromosome 15, 42702852: 42702855

Expression for Muscular Dystrophy, Limb-Girdle, Type 2a

Search GEO for disease gene expression data for Muscular Dystrophy, Limb-Girdle, Type 2a.

Pathways for Muscular Dystrophy, Limb-Girdle, Type 2a

Pathways related to Muscular Dystrophy, Limb-Girdle, Type 2a according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.64 MIR214 MIR221 MIR222 MIR223 MIR335 MIR34A
2 10.91 MIR146B MIR221 MIR222
3 10.81 MIR221 MIR222
4 10.58 MIR148A MIR148B MIRLET7B

GO Terms for Muscular Dystrophy, Limb-Girdle, Type 2a

Cellular components related to Muscular Dystrophy, Limb-Girdle, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.36 MIR130A MIR146B MIR148A MIR148B MIR221 MIR222

Biological processes related to Muscular Dystrophy, Limb-Girdle, Type 2a according to GeneCards Suite gene sharing:

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of angiogenesis GO:0045766 9.73 MIR130A MIR99B MIRLET7B
2 negative regulation of angiogenesis GO:0016525 9.72 MIR214 MIR222 MIR34A
3 positive regulation of epithelial cell migration GO:0010634 9.59 MIR221 MIR222
4 negative regulation of sprouting angiogenesis GO:1903671 9.58 MIR221 MIR34A
5 positive regulation of G1/S transition of mitotic cell cycle GO:1900087 9.58 MIR221 MIR222
6 negative regulation of vascular smooth muscle cell proliferation GO:1904706 9.58 MIR214 MIR223 MIR34A
7 positive regulation of erythrocyte differentiation GO:0045648 9.57 MIR221 MIR222
8 negative regulation of cytokine production involved in inflammatory response GO:1900016 9.54 MIR221 MIR222
9 positive regulation of connective tissue replacement GO:1905205 9.52 MIR214 MIR34A
10 positive regulation of axon regeneration GO:0048680 9.51 MIR221 MIR222
11 negative regulation by host of viral genome replication GO:0044828 9.49 MIR221 MIR222
12 negative regulation of leukocyte adhesion to vascular endothelial cell GO:1904995 9.48 MIR221 MIR222
13 negative regulation of cell adhesion molecule production GO:0060354 9.46 MIR221 MIR222
14 negative regulation of TRAIL-activated apoptotic signaling pathway GO:1903122 9.43 MIR221 MIR222
15 positive regulation of Schwann cell migration GO:1900149 9.37 MIR221 MIR222
16 negative regulation of vascular associated smooth muscle cell migration GO:1904753 9.33 MIR214 MIR223 MIR34A
17 negative regulation of hematopoietic stem cell proliferation GO:1902034 9.32 MIR221 MIR222
18 gene silencing by miRNA GO:0035195 9.32 MIR130A MIR146B MIR148A MIR148B MIR214 MIR221
19 positive regulation of Schwann cell proliferation involved in axon regeneration GO:1905046 9.26 MIR221 MIR222
20 positive regulation of vascular smooth muscle cell proliferation GO:1904707 9.26 MIR130A MIR214 MIR221 MIR222

Molecular functions related to Muscular Dystrophy, Limb-Girdle, Type 2a according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.32 MIR130A MIR146B MIR148A MIR148B MIR214 MIR221

Sources for Muscular Dystrophy, Limb-Girdle, Type 2a

3 CDC
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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69 SNOMED-CT via HPO
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74 UMLS via Orphanet
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