MCID: MSC114
MIFTS: 31

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 50 12
Lgmd2e 46 52 68 48
Muscular Dystrophy, Limb-Girdle, Type 2s 50 66
Limb-Girdle Muscular Dystrophy 2s 68 25
Beta-Sarcoglycanopathy 52 66
Lgmd2s 52 68
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 52
 
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 46
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 52
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 52
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 46
Limb-Girdle Muscular Dystrophy, Type 2e 66
Limb-Girdle Muscular Dystrophy Type 2e 46
Limb-Girdle Muscular Dystrophy 2e 68

Characteristics:

Orphanet epidemiological data:

52
lgmd2s:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
lgmd2e:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (United Kingdom),<1/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: adult

HPO:

62
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:

ICD10 via Orphanet29 G71.0
MeSH37 D049288

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

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UniProtKB/Swiss-Prot:68 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.

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2e, also known as lgmd2e, is related to calpainopathy and beta-sarcoglycanopathy, 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 TRAPPC11 (Trafficking Protein Particle Complex 11).

OMIM:50 LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in... (615356) more...

Description from OMIM:50 604286

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

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



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

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

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Symptoms by clinical synopsis from OMIM:

604286

Clinical features from OMIM:

604286,615356

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

(show all 27)
id Description Frequency HPO Source Accession
1 dilated cardiomyopathy rare (5%) HP:0001644
2 elevated serum creatine phosphokinase HP:0003236
3 limb-girdle muscle weakness HP:0003325
4 muscular dystrophy HP:0003560
5 scapular winging HP:0003691
6 calf muscle pseudohypertrophy HP:0003707
7 shoulder girdle muscle atrophy HP:0003724
8 proximal amyotrophy HP:0007126
9 pelvic girdle muscle atrophy HP:0008988
10 microcephaly HP:0000252
11 strabismus HP:0000486
12 cataract HP:0000518
13 myopia HP:0000545
14 ataxia HP:0001251
15 muscular hypotonia HP:0001252
16 global developmental delay HP:0001263
17 dystonia HP:0001332
18 tremor HP:0001337
19 hip dysplasia HP:0001385
20 chorea HP:0002072
21 athetosis HP:0002305
22 scoliosis HP:0002650
23 myalgia HP:0003326
24 muscle cramps HP:0003394
25 proximal muscle weakness HP:0003701
26 short stature HP:0004322
27 limb-girdle muscular dystrophy HP:0006785

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


ataxia, athetosis, muscle cramp, tremor, myalgia

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 Limb-Girdle Muscular Dystrophy, Type 2e25
2 Limb-Girdle Muscular Dystrophy, Type 2s25

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

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Animal Models for Muscular Dystrophy, Limb-Girdle, Type 2e or affiliated genes

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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:

68
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 15)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCBNM_000232.4(SGCB): c.32dupA (p.Gln12Alafs)duplicationPathogenicrs796065319GRCh37Chr 4, 52904394: 52904394
2NM_001267578.1(TOR1AIP1): c.186delG (p.Glu62Aspfs)deletionPathogenicGRCh38Chr 1, 179882688: 179882688
3SGCBNM_000232.4(SGCB): c.341C> T (p.Ser114Phe)single nucleotide variantPathogenicrs150518260GRCh37Chr 4, 52895932: 52895932
4TRAPPC11NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg)single nucleotide variantPathogenicrs397509417GRCh37Chr 4, 184622936: 184622936
5TRAPPC11NM_021942.5(TRAPPC11): c.1287+5G> Asingle nucleotide variantPathogenicrs397509418GRCh37Chr 4, 184605212: 184605212
6SGCBNM_000232.4(SGCB): c.452C> G (p.Thr151Arg)single nucleotide variantPathogenicrs28936383GRCh37Chr 4, 52895065: 52895065
7SGCBNM_000232.4(SGCB): c.552T> G (p.Tyr184Ter)single nucleotide variantPathogenicrs104893868GRCh37Chr 4, 52894965: 52894965
8SGCBSGCB, 8-BP DUP, NT383duplicationPathogenic
9SGCBSGCB, 2-BP DEL, NT465deletionPathogenic
10SGCBNM_000232.4(SGCB): c.272G> C (p.Arg91Pro)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
11SGCBNM_000232.4(SGCB): c.323T> G (p.Leu108Arg)single nucleotide variantPathogenicrs104893870GRCh37Chr 4, 52895950: 52895950
12SGCBNM_000232.4(SGCB): c.299T> A (p.Met100Lys)single nucleotide variantPathogenicrs104893871GRCh37Chr 4, 52895974: 52895974
13SGCBNM_000232.4(SGCB): c.272G> T (p.Arg91Leu)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
14SGCBSGCB, 4-BP DEL, 243+3GAGTdeletionPathogenic
15SGCBNM_000232.4(SGCB): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs398123262GRCh37Chr 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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GO Terms for genes affiliated with Muscular Dystrophy, Limb-Girdle, Type 2e

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet