MCID: MSC114
MIFTS: 43

Muscular Dystrophy, Limb-Girdle, Type 2e malady

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

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

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Aliases & Descriptions for Muscular Dystrophy, Limb-Girdle, Type 2e:

Name: Muscular Dystrophy, Limb-Girdle, Type 2e 52 11 12
Beta-Sarcoglycanopathy 11 48 24 54 27 68
Lgmd2e 11 48 24 54 70 50
Lgmd2s 11 48 24 54 70
Muscular Dystrophy, Limb-Girdle, Type 2s 52 11 48 68
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 11 48 54
Muscular Dystrophy, Limb-Girdle, Type 2y 11 24 70
Lgmd2y 11 24 70
Autosomal Recessive Muscular Dystrophy Due to Torsin-1a-Interacting Protein 1 Deficiency 11 54
Muscular Dystrophy with Progressive Weakness, Distal Contractures and Rigid Spine 11 54
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 11 54
Autosomal Recessive Muscular Dystrophy Due to Lap1b Deficiency 11 54
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 11 54
Limb-Girdle Muscular Dystrophy Type 2s 48 24
Limb-Girdle Muscular Dystrophy 2y 70 27
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 48
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2y 11
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 48
Limb-Girdle Muscular Dystrophy, Type 2e 68
Limb-Girdle Muscular Dystrophy Type 2e 48
Limb-Girdle Muscular Dystrophy Type 2y 24
Limb-Girdle Muscular Dystrophy 2e 70
Limb-Girdle Muscular Dystrophy 2s 70

Characteristics:

Orphanet epidemiological data:

54
lgmd2s:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
autosomal recessive muscular dystrophy due to torsin-1a-interacting protein 1 deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adolescent,Childhood
beta-sarcoglycanopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United Kingdom),<1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult

HPO:

64
muscular dystrophy, limb-girdle, type 2e:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset
muscular dystrophy, limb-girdle, type 2s:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability

Classifications:



External Ids:

ICD1030 G71.0
ICD10 via Orphanet31 G71.0
MeSH39 D049288

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

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UniProtKB/Swiss-Prot:70 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 2e, also known as beta-sarcoglycanopathy, is related to calpainopathy and muscular dystrophy, limb-girdle, type 2a, and has symptoms including dilated cardiomyopathy, elevated serum creatine phosphokinase and limb-girdle muscle weakness. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2e is SGCB (Sarcoglycan Beta), and among its related pathways is Striated Muscle Contraction. Related mouse phenotypes are homeostasis/metabolism and muscle.

Disease Ontology:11 An autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.

OMIM:52 LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in... (615356) more...

Description from OMIM:52 604286

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

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Diseases in the Limb-Girdle Muscular Dystrophy family:

Muscular Dystrophy, Limb-Girdle, Type 1b Muscular Dystrophy, Limb-Girdle, Type 2b
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 2e Limb-Girdle Muscular Dystrophy, Type 1g
Muscular Dystrophy, Limb-Girdle, Type 1a Muscular Dystrophy, Limb-Girdle, Type 2f
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 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2w Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2x

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

(show all 27)
idRelated DiseaseScoreTop Affiliating Genes
1calpainopathy10.8
2muscular dystrophy, limb-girdle, type 2a10.8
3mast cell disease10.4SGCB, TRAPPC11
4proliferating trichilemmal cyst10.1FKRP, SGCA
5sarcoglycanopathies10.1
6juvenile primary osteoporosis10.0CAPN3, FKRP
7autosomal recessive limb-girdle muscular dystrophy9.9
8muscular dystrophy9.9
9limb-girdle muscular dystrophy9.9
10longitudinal vaginal septum9.9TCAP, TTN
11medial medullary syndrome9.9FKRP, SGCA
12cardiomyopathy, familial hypertrophic9.9TCAP, TTN
13immunodeficiency 34, mycobacteriosis, x-linked9.9SGCA, SGCB, TTN
14myoglobinuria9.8
15rippling muscle disease9.7DYSF, TTN
16miyoshi muscular dystrophy 19.7CAPN3, DYSF
17schindler disease9.6DYSF, SGCA, SGCB
18dystrophinopathies9.6CAPN3, DYSF
19ectodermal dysplasia9.6SGCA, TCAP, TTN
20cataract9.5CAPN3, DYSF, TRAPPC11
21thrombocytopenia, x-linked9.4DYSF, FKRP, SGCA
22bethlem myopathy 19.4CAPN3, DYSF
23cardiovascular disease risk factor )9.3SGCA, TCAP, TTN
24adult malignant hemangiopericytoma9.2CAPN3, DYSF, TTN
25classic variant of chromophobe renal cell carcinoma8.9CAPN3, DYSF, FKRP, SGCA
26emery-dreifuss muscular dystrophy8.4CAPN3, DYSF, SGCA, SGCB, TCAP, TRIM32
27median arcuate ligament syndrome8.0CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP

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



Diseases related to muscular dystrophy, limb-girdle, type 2e

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

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Symptoms by clinical synopsis from OMIM:

604286

Clinical features from OMIM:

604286,615356

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

 64 (show all 27)
id Description HPO Frequency HPO Source Accession
1 dilated cardiomyopathy64 rare (5%) HP:0001644
2 elevated serum creatine phosphokinase64 HP:0003236
3 limb-girdle muscle weakness64 HP:0003325
4 muscular dystrophy64 HP:0003560
5 scapular winging64 HP:0003691
6 calf muscle pseudohypertrophy64 HP:0003707
7 shoulder girdle muscle atrophy64 HP:0003724
8 proximal amyotrophy64 HP:0007126
9 pelvic girdle muscle atrophy64 HP:0008988
10 microcephaly64 HP:0000252
11 strabismus64 HP:0000486
12 cataract64 HP:0000518
13 myopia64 HP:0000545
14 ataxia64 HP:0001251
15 muscular hypotonia64 HP:0001252
16 global developmental delay64 HP:0001263
17 dystonia64 HP:0001332
18 tremor64 HP:0001337
19 hip dysplasia64 HP:0001385
20 chorea64 HP:0002072
21 athetosis64 HP:0002305
22 scoliosis64 HP:0002650
23 myalgia64 HP:0003326
24 muscle cramps64 HP:0003394
25 proximal muscle weakness64 HP:0003701
26 short stature64 HP:0004322
27 limb-girdle muscular dystrophy64 HP:0006785

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


ataxia, athetosis, muscle cramp, tremor, myalgia

MGI Mouse Phenotypes related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.5CAPN3, DYSF, FKRP, SGCA, TCAP, TRIM32
2MP:00053696.4CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Beta-Sarcoglycanopathy27 24 SGCB
2 Limb-Girdle Muscular Dystrophy, Type 2e27
3 Limb-Girdle Muscular Dystrophy, Type 2s27
4 Muscular Dystrophy, Limb-Girdle, Type 2y27
5 Limb-Girdle Muscular Dystrophy Type 2s24 TRAPPC11
6 Limb-Girdle Muscular Dystrophy Type 2y24 TOR1AIP1

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

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

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

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

70
id Symbol AA change Variation ID SNP ID
1SGCBp.Arg91LeuVAR_010391rs104893869
2SGCBp.Arg91ProVAR_010392rs28936384
3SGCBp.Met100LysVAR_010393rs28936386
4SGCBp.Leu108ArgVAR_010394rs104893870
5SGCBp.Thr151ArgVAR_010395rs28936383
6SGCBp.Arg91CysVAR_010422rs555514820
7SGCBp.Ile119PheVAR_010424rs762412447
8SGCBp.Gly167SerVAR_010426rs779516489
9TRAPPC11p.Gly980ArgVAR_070158rs397509417

Clinvar genetic disease variations for Muscular Dystrophy, Limb-Girdle, Type 2e:

5 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCBNM_000232.4(SGCB): c.32dupA (p.Gln12Alafs)duplicationPathogenicrs796065319GRCh37Chr 4, 52904394: 52904394
2TOR1AIP1;TOR1AIP2NM_001267578.1(TOR1AIP1): c.186delG (p.Glu62Aspfs)deletionPathogenicrs879255612GRCh38Chr 1, 179882688: 179882688
3TRAPPC11NM_021942.5(TRAPPC11): c.661-1G> TSNVPathogenicrs886041052GRCh38Chr 4, 183675163: 183675163
4TRAPPC11NM_021942.5(TRAPPC11): c.1893+3A> GSNVPathogenicrs886041053GRCh38Chr 4, 183686751: 183686751
5SGCBNM_000232.4(SGCB): c.1_2delAT (p.Met1Glyfs)deletionPathogenicrs886042503GRCh37Chr 4, 52904424: 52904425
6SGCBNM_000232.4(SGCB): c.572delT (p.Leu191Cysfs)deletionPathogenicrs886042546GRCh37Chr 4, 52894945: 52894945
7SGCBNM_000232.4(SGCB): c.31C> T (p.Gln11Ter)SNVLikely pathogenic, Pathogenicrs752492870GRCh37Chr 4, 52904395: 52904395
8SGCBNM_000232.4: c.622-2A> GSNVLikely pathogenicChr na, -1: -1
9SGCBNM_000232.4: c.216_219delGTTTdeletionLikely pathogenicChr na, -1: -1
10SGCBNM_000232.4: c.699_702delCATTdeletionLikely pathogenicChr na, -1: -1
11SGCBNM_000232.4: c.85A> TSNVLikely pathogenicChr na, -1: -1
12SGCBNM_000232.4: c.551_552delATdeletionLikely pathogenicChr na, -1: -1
13SGCBNM_000232.4: c.29_33del5deletionLikely pathogenicChr na, -1: -1
14SGCBNM_000232.4: c.-15_8del23deletionLikely pathogenicChr na, -1: -1
15SGCBNM_000232.4(SGCB): c.341C> T (p.Ser114Phe)SNVPathogenicrs150518260GRCh37Chr 4, 52895932: 52895932
16TRAPPC11NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg)SNVPathogenicrs397509417GRCh37Chr 4, 184622936: 184622936
17TRAPPC11NM_021942.5(TRAPPC11): c.1287+5G> ASNVPathogenicrs397509418GRCh37Chr 4, 184605212: 184605212
18SGCBNM_000232.4(SGCB): c.452C> G (p.Thr151Arg)SNVPathogenicrs28936383GRCh37Chr 4, 52895065: 52895065
19SGCBNM_000232.4(SGCB): c.552T> G (p.Tyr184Ter)SNVLikely pathogenic, Pathogenicrs104893868GRCh37Chr 4, 52894965: 52894965
20SGCBSGCB, 8-BP DUP, NT383duplicationPathogenicChr na, -1: -1
21SGCBSGCB, 2-BP DEL, NT465deletionPathogenicChr na, -1: -1
22SGCBNM_000232.4(SGCB): c.272G> C (p.Arg91Pro)SNVPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
23SGCBNM_000232.4(SGCB): c.323T> G (p.Leu108Arg)SNVPathogenicrs104893870GRCh37Chr 4, 52895950: 52895950
24SGCBNM_000232.4(SGCB): c.299T> A (p.Met100Lys)SNVPathogenicrs104893871GRCh37Chr 4, 52895974: 52895974
25SGCBNM_000232.4(SGCB): c.272G> T (p.Arg91Leu)SNVPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
26SGCBSGCB, 4-BP DEL, 243+3GAGTdeletionPathogenicChr na, -1: -1
27SGCBNM_000232.4(SGCB): c.1A> G (p.Met1Val)SNVPathogenicrs398123262GRCh37Chr 4, 52904425: 52904425

Expression for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2e

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

Pathways for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2e

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

idSuper pathwaysScoreTop Affiliating Genes
19.5TCAP, TTN

GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2e

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

idNameGO IDScoreTop Affiliating Genes
1dystroglycan complexGO:001601110.4SGCA, SGCB
2sarcoglycan complexGO:001601210.4SGCA, SGCB
3I bandGO:003167410.1TCAP, TTN
4dystrophin-associated glycoprotein complexGO:00160109.9FKRP, SGCA, SGCB
5T-tubuleGO:00303159.6CAPN3, DYSF
6sarcolemmaGO:00423839.0DYSF, FKRP, SGCA, SGCB
7Z discGO:00300188.9CAPN3, TCAP, TTN

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1membrane organizationGO:006102410.4SGCA, SGCB
2cardiac muscle contractionGO:006004810.2TCAP, TTN
3cardiac muscle fiber developmentGO:004873910.2TCAP, TTN
4cardiac muscle hypertrophyGO:000330010.2TCAP, TTN
5cardiac muscle tissue morphogenesisGO:005500810.2TCAP, TTN
6cardiac myofibril assemblyGO:005500310.2TCAP, TTN
7detection of muscle stretchGO:003599510.2TCAP, TTN
8muscle cell cellular homeostasisGO:004671610.1CAPN3, TRIM32
9muscle filament slidingGO:003004910.1TCAP, TTN
10positive regulation of proteolysisGO:004586210.1CAPN3, TRIM32
11regulation of catalytic activityGO:00507909.9CAPN3, TTN
12response to calcium ionGO:00515929.8CAPN3, TTN
13muscle organ developmentGO:00075179.7CAPN3, SGCA, SGCB
14sarcomerogenesisGO:00487699.7TCAP, TTN
15skeletal muscle myosin thick filament assemblyGO:00302419.6TCAP, TTN
16skeletal muscle thin filament assemblyGO:00302409.5TCAP, TTN
17muscle contractionGO:00069369.4DYSF, SGCA, TTN
18sarcomere organizationGO:00452149.2CAPN3, TCAP, TTN

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:004362110.0TRIM32, TTN
2titin bindingGO:00314329.4CAPN3, TCAP
3structural constituent of muscleGO:00083079.2CAPN3, TCAP, TTN
4calcium ion bindingGO:00055098.6CAPN3, DYSF, SGCA, TTN

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet