MCID: MSC121
MIFTS: 53

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 54 12 13
Lgmd2a 12 50 24 56 71 52
Calpainopathy 38 23 50 24 71
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a 12 56 14
Limb-Girdle Muscular Dystrophy Due to Calpain Deficiency 12 56
Muscular Dystrophy, Limb-Girdle, Type 2s 50 69
Limb-Girdle Muscular Dystrophy Type 2a 50 69
Limb-Girdle Muscular Dystrophy Type 2s 50 24
Leyden-Moebius Muscular Dystrophy 12 50
Primary Calpainopathy 12 56
Lgmd2s 50 24
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 50
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 50
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 50
Muscular Dystrophy, Limb-Girdle, Type 2y 24
Limb-Girdle Muscular Dystrophy, Type 2e 69
Limb-Girdle Muscular Dystrophy, Type 2a 29
Limb-Girdle Muscular Dystrophy Type 2e 50
Limb-Girdle Muscular Dystrophy Type 2y 24
Limb Girdle Muscular Dystrophy Type 2a 24
Limb-Girdle Muscular Dystrophy Type 2 50
Limb-Girdle Muscular Dystrophy 2a 71
Muscular Dystrophy, Pelvofemoral 50
Pelvofemoral Muscular Dystrophy 12
Muscular Dystrophy Pelvofemoral 71
Lgmd 2a 24
Lgmd2e 50
Lgmd2y 24
Lgmd2 50

Characteristics:

Orphanet epidemiological data:

56
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:

54
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 2a:
Inheritance autosomal recessive inheritance


GeneReviews:

23
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: 56  
Rare neurological diseases


External Ids:

OMIM 54 253600
Disease Ontology 12 DOID:0110275
ICD10 33 G71.0
Orphanet 56 ORPHA267
UMLS via Orphanet 70 C1869123
ICD10 via Orphanet 34 G71.0
MeSH 42 D049288

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

NIH Rare Diseases : 50 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. last updated: 9/7/2017

MalaCards based summary : Muscular Dystrophy, Limb-Girdle, Type 2a, also known as lgmd2a, is related to muscular dystrophy, limb-girdle, type 2y and autosomal recessive limb-girdle muscular dystrophy type 2e, and has symptoms including muscular dystrophy, eosinophilia and scapular winging. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2a is CAPN3 (Calpain 3), and among its related pathways/superpathways are Cardiac conduction and Allograft rejection. The drugs Deflazacort and Lisinopril have been mentioned in the context of this disorder. Affiliated tissues include heart, and related phenotypes are cardiovascular system and homeostasis/metabolism

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.

OMIM : 54
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)

UniProtKB/Swiss-Prot : 71 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, Type 2a

Diseases in the Limb-Girdle Muscular Dystrophy family:

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

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

(show top 50) (show all 72)
id Related Disease Score Top Affiliating Genes
1 muscular dystrophy, limb-girdle, type 2y 34.6 SGCB TOR1AIP1 TRAPPC11
2 autosomal recessive limb-girdle muscular dystrophy type 2e 28.8 ANO5 CAPN3 DMD DYSF FKRP SGCA
3 muscular dystrophy limb girdle type 2a, erb type 12.3
4 hirschsprung disease 5 10.6 FKRP TRAPPC11
5 lopes gorlin syndrome 10.5 DMD DYSF
6 anonychia congenita 10.5 CAPN3 DMD
7 miyoshi muscular dystrophy 1 10.4 CAPN3 DYSF
8 efemp2-related cutis laxa 10.4 CAPN3 DYSF
9 dsg2-related dilated cardiomyopathy 10.4 DMD SGCA
10 metaphyseal chondrodysplasia, murk jansen type 10.4 CAV3 DYSF TTN
11 muscular dystrophy, congenital, 1b 10.3 DMD FKRP
12 adrenal carcinoma 10.3 ANO5 DYSF
13 chronic atrial and intestinal dysrhythmia 10.3 DNAJB6 MYOT
14 salih myopathy 10.3 CAPN3 FKRP MYOT TTN
15 epidermolysis bullosa simplex with nail dystrophy 10.2 DNAJB6 TRAPPC11
16 myopathy, distal, tateyama type 10.2 CAV3 DMD
17 dentinogenesis imperfecta, shields type ii 10.2 DNAJB6 MYOT TRAPPC11
18 muscular phosphorylase kinase deficiency 10.2 DMD FKRP SGCA
19 properdin deficiency 10.2 DMD SGCA
20 nkx2-1-related disorders 10.2 DMD MYOT TTN
21 myopathy, spheroid body 10.1 DNAJB6 MYOT TTN
22 adult intracranial malignant hemangiopericytoma 10.1 CAPN3 DMD DYSF TTN
23 autoimmune thyroid disease 2 10.1 DNAJB6 MYOT TTN
24 ulnar hemimelia, unilateral 10.0 LMNA TTN
25 craniofrontonasal dysplasia 10.0 DMD DYSF FKRP SGCA
26 multiple endocrine neoplasia 10.0 CAPN3 CAV3 DMD FKRP
27 ulnar hemimelia, bilateral 10.0 LMNA TTN
28 muscular dystrophy 10.0
29 tibial hemimelia, bilateral 10.0 LMNA TTN
30 miyoshi muscular dystrophy 3 10.0 ANO5 DYSF FKRP TRAPPC11
31 myopathy 10.0
32 myositis 10.0
33 limb-girdle muscular dystrophy 10.0
34 creatine phosphokinase, elevated serum 9.9 CAV3 DNAJB6 DYSF FKRP
35 congenital myopathy 9.8 DMD TTN
36 deafness, autosomal dominant 50 9.8 CAV3 DNAJB6 MYOT TRAPPC11
37 myopathy, myofibrillar, 3 9.8 CAPN3 CAV3 FKRP MYOT TRIM32
38 osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures 9.8 CAPN3 DYSF FKRP TCAP TRIM32 TTN
39 charcot-marie-tooth disease, type 2b2 9.8 CAPN3 DYSF FKRP TCAP TRIM32 TTN
40 nonsyndromic deafness 9.8 DMD FKRP SGCA
41 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 9.7 DMD SGCD TCAP TTN
42 inclusion body myositis 9.7
43 dysferlinopathy 9.7
44 sarcoglycanopathies 9.7
45 foot drop 9.7
46 muscular dystrophy, rigid spine, 1 9.7 ANO5 DMD DYSF TTN
47 cardiomyopathy, hypertrophic, 25 9.7 CAPN3 DYSF FKRP MYOT TCAP TRIM32
48 immunodeficiency 34, mycobacteriosis, x-linked 9.7 CAV3 DMD SGCA SGCB TTN
49 microcephaly and chorioretinopathy 1 9.7 DMD DYSF LMNA
50 autoimmune disease of skin and connective tissue 9.6 DMD LMNA TTN

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:

54

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
Head And Neck- Face:
facial weakness (less common)

Laboratory- Abnormalities:
elevated creatine kinase
transient eosinophilia in first decade

Skeletal- Limbs:
contractures (in a subset of patients)


Clinical features from OMIM:

253600

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

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 muscular dystrophy 32 HP:0003560
2 eosinophilia 32 HP:0001880
3 scapular winging 32 HP:0003691
4 difficulty walking 32 HP:0002355
5 facial palsy 32 occasional (7.5%) HP:0010628
6 clumsiness 32 HP:0002312
7 flexion contracture 32 HP:0001371
8 elevated serum creatine phosphokinase 32 HP:0003236
9 proximal amyotrophy 32 HP:0007126

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


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

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2a:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.9 CAPN10 CAPN3 CAV3 DMD LMNA SGCA
2 homeostasis/metabolism MP:0005376 9.77 LMNA SGCA SGCD SGCG TCAP TRIM32
3 muscle MP:0005369 9.44 CAV3 DMD DYSF FKRP LMNA SGCA

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

Interventional clinical trials:

(show all 15)

id 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 Enrolling by invitation 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 A Trial of PF-06252616 in Ambulatory Participants With LGMD2I Active, not recruiting NCT02841267 Phase 1, Phase 2 PF 06252616
5 Gene Transfer Clinical Trial for LGMD2D (Alpha-sarcoglycan Deficiency) Using scAAVrh74.tMCK.hSGCA Enrolling by invitation NCT01976091 Phase 1, Phase 2 scAAVrh74.tMCK.hSGCA
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 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 Congenital Muscle Disease Study of Patient and Family Reported Medical Information Recruiting NCT01403402
14 Clinical Outcome Study for Dysferlinopathy Active, not recruiting NCT01676077
15 Clinical Importance of Carrier Status of Recessive Gene Mutations in Myopathy (CICS) Not yet recruiting NCT02897921

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:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2a 29
2 Calpainopathy 24 CAPN3
3 Limb-Girdle Muscular Dystrophy Type 2y 24 TOR1AIP1
4 Limb-Girdle Muscular Dystrophy Type 2s 24 TRAPPC11

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

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

39
Heart

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

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

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

71 (show top 50) (show all 53)
id 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
50 CAPN3 p.Asp705Gly VAR_009595

ClinVar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2a:

6 (show top 50) (show all 110)
id 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.552T> G (p.Tyr184Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104893868 GRCh37 Chromosome 4, 52894965: 52894965
3 SGCB SGCB, 8-BP DUP, NT383 duplication Pathogenic
4 SGCB SGCB, 2-BP DEL, NT465 deletion Pathogenic
5 SGCB NM_000232.4(SGCB): c.272G> C (p.Arg91Pro) single nucleotide variant Pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
6 SGCB NM_000232.4(SGCB): c.323T> G (p.Leu108Arg) single nucleotide variant Pathogenic rs104893870 GRCh37 Chromosome 4, 52895950: 52895950
7 SGCB NM_000232.4(SGCB): c.299T> A (p.Met100Lys) single nucleotide variant Pathogenic rs104893871 GRCh37 Chromosome 4, 52895974: 52895974
8 SGCB NM_000232.4(SGCB): c.272G> T (p.Arg91Leu) single nucleotide variant Pathogenic rs104893869 GRCh37 Chromosome 4, 52896001: 52896001
9 SGCB SGCB, 4-BP DEL, 243+3GAGT deletion Pathogenic
10 CAPN3 NM_000070.2(CAPN3): c.2306G> A (p.Arg769Gln) single nucleotide variant Pathogenic rs80338802 GRCh37 Chromosome 15, 42703124: 42703124
11 CAPN3 NM_000070.2(CAPN3): c.1715G> A (p.Arg572Gln) single nucleotide variant Pathogenic rs121434544 GRCh37 Chromosome 15, 42695170: 42695170
12 CAPN3 NM_000070.2(CAPN3): c.328C> T (p.Arg110Ter) single nucleotide variant Pathogenic rs121434545 GRCh37 Chromosome 15, 42676699: 42676699
13 CAPN3 NM_000070.2(CAPN3): c.257C> T (p.Ser86Phe) single nucleotide variant Pathogenic rs121434546 GRCh37 Chromosome 15, 42652260: 42652260
14 CAPN3 NM_000070.2(CAPN3): c.956C> T (p.Pro319Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434547 GRCh37 Chromosome 15, 42684847: 42684847
15 CAPN3 NM_000070.2(CAPN3): c.2362_2363delAGinsTCATCT (p.Arg788Serfs) indel Pathogenic rs80338804 GRCh37 Chromosome 15, 42703180: 42703181
16 CAPN3 NM_000070.2(CAPN3): c.1080G> C (p.Trp360Cys) single nucleotide variant Pathogenic rs267606703 GRCh37 Chromosome 15, 42686504: 42686504
17 CAPN3 NM_000070.2(CAPN3): c.1795dupA (p.Thr599Asnfs) duplication Pathogenic/Likely pathogenic rs80338803 GRCh37 Chromosome 15, 42698136: 42698136
18 CAPN3 NM_000070.2(CAPN3): c.550delA (p.Thr184Argfs) deletion Pathogenic rs80338800 GRCh37 Chromosome 15, 42680002: 42680002
19 CAPN3 NM_000070.2(CAPN3): c.1469G> A (p.Arg490Gln) single nucleotide variant Pathogenic rs121434548 GRCh37 Chromosome 15, 42693953: 42693953
20 CAPN3 NM_000070.2(CAPN3): c.946-1G> A single nucleotide variant Pathogenic rs80338801 GRCh37 Chromosome 15, 42684836: 42684836
21 SGCB NM_000232.4(SGCB): c.341C> T (p.Ser114Phe) single nucleotide variant Pathogenic rs150518260 GRCh37 Chromosome 4, 52895932: 52895932
22 TRAPPC11 NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg) single nucleotide variant Pathogenic rs397509417 GRCh37 Chromosome 4, 184622936: 184622936
23 TRAPPC11 NM_021942.5(TRAPPC11): c.1287+5G> A single nucleotide variant Pathogenic rs397509418 GRCh37 Chromosome 4, 184605212: 184605212
24 CAPN3 NM_000070.2(CAPN3): c.223dupT (p.Tyr75Leufs) duplication Pathogenic rs398123146 GRCh37 Chromosome 15, 42652226: 42652226
25 CAPN3 NM_000070.2(CAPN3): c.2251_2254dupGTCA (p.Asn752Serfs) duplication Pathogenic rs398123147 GRCh37 Chromosome 15, 42702852: 42702855
26 CAPN3 NM_000070.2(CAPN3): c.580delT (p.Ser194Profs) deletion Pathogenic rs398123149 GRCh37 Chromosome 15, 42680032: 42680032
27 CAPN3 NM_000070.2(CAPN3): c.855_864dupGTTGATTGCA (p.Arg289Valfs) duplication Pathogenic rs398123150 GRCh37 Chromosome 15, 42682204: 42682213
28 SGCB NM_000232.4(SGCB): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs398123262 GRCh37 Chromosome 4, 52904425: 52904425
29 CAPN3 NM_000070.2(CAPN3): c.2207_2208delCA (p.Thr736Argfs) deletion Pathogenic rs587780289 GRCh38 Chromosome 15, 42410610: 42410611
30 CAPN3 NM_000070.2(CAPN3): c.2243G> A (p.Arg748Gln) single nucleotide variant Pathogenic/Likely pathogenic rs587780290 GRCh38 Chromosome 15, 42410646: 42410646
31 CAPN3 NM_000070.2(CAPN3): c.371G> C (p.Gly124Ala) single nucleotide variant Likely pathogenic rs587780291 GRCh38 Chromosome 15, 42384544: 42384544
32 CAPN3 NM_000070.2(CAPN3): c.1699G> T (p.Gly567Trp) single nucleotide variant Pathogenic rs727503839 GRCh38 Chromosome 15, 42402956: 42402956
33 CAPN3 NM_000070.2(CAPN3): c.1468C> T (p.Arg490Trp) single nucleotide variant Pathogenic rs141656719 GRCh38 Chromosome 15, 42401754: 42401754
34 CAPN3 NM_000070.2(CAPN3): c.598_612delTTCTGGAGTGCTCTG (p.Phe200_Leu204del) deletion Pathogenic rs727503837 GRCh37 Chromosome 15, 42680050: 42680064
35 CAPN3 NM_000070.2(CAPN3): c.145C> T (p.Arg49Cys) single nucleotide variant Pathogenic/Likely pathogenic rs794726871 GRCh37 Chromosome 15, 42652148: 42652148
36 SGCB NM_000232.4(SGCB): c.32dupA (p.Gln12Alafs) duplication Pathogenic rs796065319 GRCh37 Chromosome 4, 52904394: 52904394
37 CAPN3 NM_000070.2(CAPN3): c.1981delA (p.Ile661Terfs) deletion Pathogenic rs762471207 GRCh37 Chromosome 15, 42701567: 42701567
38 CAPN3 NM_000070.2(CAPN3): c.2338G> C (p.Asp780His) single nucleotide variant Pathogenic rs778768583 GRCh37 Chromosome 15, 42703156: 42703156
39 CAPN3 NM_000070.2(CAPN3): c.759_761delGAA (p.Lys254del) deletion Pathogenic rs794727697 GRCh37 Chromosome 15, 42681252: 42681254
40 CAPN3 NM_000070.2(CAPN3): c.795_800delCATTGA (p.Ile266_Asp267del) deletion Likely pathogenic rs869312852 GRCh37 Chromosome 15, 42681288: 42681293
41 CAPN3 NM_000070.2(CAPN3): c.327_328dupCC (p.Arg110Profs) duplication Pathogenic rs797045427 GRCh38 Chromosome 15, 42384500: 42384501
42 CAPN3 NM_000070.2(CAPN3): c.319G> T (p.Glu107Ter) single nucleotide variant Pathogenic rs1801505 GRCh37 Chromosome 15, 42676690: 42676690
43 CAPN3 NM_000070.2(CAPN3): c.133G> A (p.Ala45Thr) single nucleotide variant Pathogenic rs774048743 GRCh37 Chromosome 15, 42652136: 42652136
44 CAPN3 NM_000070.2(CAPN3): c.146G> A (p.Arg49His) single nucleotide variant Likely pathogenic rs863224958 GRCh38 Chromosome 15, 42359951: 42359951
45 CAPN3 NM_000070.2(CAPN3): c.483delG (p.Ile162Serfs) deletion Pathogenic rs863224963 GRCh38 Chromosome 15, 42386270: 42386270
46 CAPN3 NM_000070.2(CAPN3): c.499-1G> A single nucleotide variant Pathogenic rs863224964 GRCh37 Chromosome 15, 42679950: 42679950
47 CAPN3 NM_000070.2(CAPN3): c.566T> C (p.Leu189Pro) single nucleotide variant Pathogenic rs758795961 GRCh38 Chromosome 15, 42387820: 42387820
48 CAPN3 NM_000070.2(CAPN3): c.643_663del21 (p.Ser215_Gly221del) deletion Pathogenic/Likely pathogenic rs863224965 GRCh37 Chromosome 15, 42681136: 42681156
49 CAPN3 NM_000070.2(CAPN3): c.883_886delGATAinsCTT (p.Asp295Leufs) indel Pathogenic rs863224966 GRCh38 Chromosome 15, 42390034: 42390037
50 CAPN3 NM_000070.2(CAPN3): c.1194-9A> G single nucleotide variant Pathogenic rs374665929 GRCh37 Chromosome 15, 42691681: 42691681

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

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:

id Name GO ID Score Top Affiliating Genes
1 Z disc GO:0030018 9.7 CAPN3 CAV3 DMD DNAJB6 MYOT TCAP
2 sarcoglycan complex GO:0016012 9.62 SGCA SGCB SGCD SGCG
3 dystroglycan complex GO:0016011 9.56 SGCA SGCB SGCD SGCG
4 T-tubule GO:0030315 9.54 CAPN3 CAV3 DYSF
5 I band GO:0031674 9.43 TCAP TTN
6 dystrophin-associated glycoprotein complex GO:0016010 9.43 CAV3 DMD FKRP SGCA SGCB SGCD
7 sarcolemma GO:0042383 9.28 CAV3 DMD DYSF FKRP MYOT SGCA
8 plasma membrane GO:0005886 10.18 ANO5 CAPN10 CAPN3 CAV3 DMD DYSF

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

(show all 28)
id Name GO ID Score Top Affiliating Genes
1 membrane organization GO:0061024 9.72 SGCA SGCB SGCD SGCG TRAPPC11
2 cardiac muscle contraction GO:0060048 9.69 DMD TCAP TTN
3 sarcomere organization GO:0045214 9.65 CAPN3 TCAP TTN
4 muscle contraction GO:0006936 9.65 CAV3 DYSF MYOT SGCA TTN
5 cardiac muscle tissue development GO:0048738 9.64 SGCD SGCG
6 skeletal muscle tissue regeneration GO:0043403 9.63 DMD SGCA
7 positive regulation of proteolysis GO:0045862 9.63 CAPN3 TRIM32
8 muscle filament sliding GO:0030049 9.63 DMD TCAP TTN
9 response to muscle stretch GO:0035994 9.62 DMD TCAP
10 heart contraction GO:0060047 9.62 SGCD SGCG
11 muscle fiber development GO:0048747 9.61 DMD SGCB
12 cardiac muscle tissue morphogenesis GO:0055008 9.61 TCAP TTN
13 response to denervation involved in regulation of muscle adaptation GO:0014894 9.6 DMD SGCA
14 cardiac myofibril assembly GO:0055003 9.59 TCAP TTN
15 cardiac muscle hypertrophy GO:0003300 9.58 TCAP TTN
16 cardiac muscle fiber development GO:0048739 9.58 TCAP TTN
17 plasma membrane repair GO:0001778 9.57 CAV3 DYSF
18 muscle cell development GO:0055001 9.56 SGCD SGCG
19 cardiac muscle cell development GO:0055013 9.55 CAV3 SGCB
20 skeletal muscle thin filament assembly GO:0030240 9.54 TCAP TTN
21 protein localization to nucleus GO:0034504 9.54 DNAJB6 LMNA TOR1AIP1
22 nucleus localization GO:0051647 9.52 CAV3 DMD
23 regulation of skeletal muscle contraction GO:0014819 9.49 CAV3 DMD
24 skeletal muscle myosin thick filament assembly GO:0030241 9.43 TCAP TTN
25 sarcomerogenesis GO:0048769 9.4 TCAP TTN
26 detection of muscle stretch GO:0035995 9.33 CAV3 TCAP TTN
27 muscle cell cellular homeostasis GO:0046716 9.26 CAPN3 CAV3 DMD TRIM32
28 muscle organ development GO:0007517 9.17 CAPN3 CAV3 DMD SGCA SGCB SGCD

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

id Name GO ID Score Top Affiliating Genes
1 ATPase activator activity GO:0001671 9.4 DNAJB6 TOR1AIP1
2 myosin binding GO:0017022 9.37 DMD TRIM32
3 calcium-dependent cysteine-type endopeptidase activity GO:0004198 9.32 CAPN10 CAPN3
4 lamin binding GO:0005521 9.26 DMD TOR1AIP1
5 nitric-oxide synthase binding GO:0050998 9.16 CAV3 DMD
6 structural constituent of muscle GO:0008307 9.02 CAPN3 DMD MYOT TCAP TTN
7 titin binding GO:0031432 8.96 CAPN3 TCAP

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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