MCID: MSC114
MIFTS: 31

Muscular Dystrophy, Limb-Girdle, Type 2e malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic 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 49 11
Lgmd2s 45 22 51 67
Lgmd2e 45 47 51 67
Muscular Dystrophy, Limb-Girdle, Type 2s 49 45 65
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 45 51
Limb-Girdle Muscular Dystrophy Type 2s 45 22
Limb-Girdle Muscular Dystrophy 2s 67 24
Beta-Sarcoglycanopathy 51 65
 
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 51
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 45
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 51
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 45
Limb-Girdle Muscular Dystrophy, Type 2e 65
Limb-Girdle Muscular Dystrophy Type 2e 45
Limb-Girdle Muscular Dystrophy 2e 67

Characteristics:

Orphanet epidemiological data:

51
lgmd2s:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
lgmd2e:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood

HPO:

61
muscular dystrophy, limb-girdle, type 2e:
Onset and clinical course: juvenile onset
Inheritance: autosomal recessive inheritance
muscular dystrophy, limb-girdle, type 2s:
Inheritance: autosomal recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

Orphanet51 369840, 119
ICD10 via Orphanet28 G71.0
MeSH36 D049288
UMLS65 C1858593, C3809236, C2930900

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

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UniProtKB/Swiss-Prot:67 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 lgmd2s, is related to beta-sarcoglycanopathy and calpainopathy, and has symptoms including dilated cardiomyopathy, pelvic girdle muscle atrophy and proximal amyotrophy. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2e is TRAPPC11 (Trafficking Protein Particle Complex 11), and among its related pathways are Striated Muscle Contraction and Hypertrophic cardiomyopathy (HCM). Related mouse phenotypes are homeostasis/metabolism and muscle.

OMIM:49 LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in... (615356) more...

Description from OMIM:49 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 Limb-Girdle Muscular Dystrophy Type 1d
Limb-Girdle Muscular Dystrophies, Autosomal Dominant Limb-Girdle Muscular Dystrophies, Autosomal Recessive
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2a
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2r
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2u Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1a
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2f
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2b Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2g

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

(show all 35)
idRelated DiseaseScoreTop Affiliating Genes
1beta-sarcoglycanopathy11.8
2calpainopathy11.4
3fetal akinesia deformation sequence10.5
4intestinal perforation10.5
5tricuspid atresia10.5
6duodenal ulcer10.3
7pancreatitis10.3
8duodenitis10.3
9ophthalmia neonatorum10.3
10progressive non-fluent aphasia10.0FKRP, SGCA
11myopathy with deficiency of iscu10.0TCAP, TTN
12juvenile batten disease10.0CAPN3, FKRP
13transverse vaginal septum9.9TCAP, TTN
14muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus9.9FKRP, SGCA
15muscular dystrophy, limb-girdle, type ic9.8DYSF, FKRP
16immature teratoma of ovary9.8CAPN3, TTN
17dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease9.7CAPN3, DYSF
18cardiomyopathy, familial hypertrophic9.7TCAP, TTN
19miyoshi muscular dystrophy 19.7CAPN3, DYSF
20sarcoidosis, susceptibility 29.7DYSF, SGCA, SGCB
21immunodeficiency 34, mycobacteriosis, x-linked9.6DYSF, FKRP, SGCA
22limb-girdle muscular dystrophy9.5CAPN3, DYSF, TTN
23cardiomyopathy with or without skeletal myopathy9.3FKRP, SGCA, SGCB, TCAP, TTN
24kummell's disease9.2CAPN3, DYSF, FKRP, SGCA
25cornelia de lange syndrome8.8CAPN3, DYSF, SGCA, SGCB, TCAP, TRIM32
26bardet-biedl syndrome 118.7CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
27cardiomyopathy, hypertrophic, 258.7CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
28myopathy, myofibrillar, 38.7CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
29glycogen storage disease 0, muscle8.7CAPN3, DYSF, FKRP, TCAP, TRIM32, TTN
30lmna-related muscle diseases8.6CAPN3, DYSF, FKRP, SGCA, TCAP, TTN
31muscular dystrophy, limb-girdle, type 2b8.2CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
32cardiomyopathy, dilated, 1l8.2CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
33cartilage disease8.2CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
34alternating esotropia8.2CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP
35mast cell disease8.0CAPN3, 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 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 pelvic girdle muscle atrophy HP:0008988
3 proximal amyotrophy HP:0007126
4 shoulder girdle muscle atrophy HP:0003724
5 calf muscle pseudohypertrophy HP:0003707
6 scapular winging HP:0003691
7 muscular dystrophy HP:0003560
8 limb-girdle muscle weakness HP:0003325
9 elevated serum creatine phosphokinase HP:0003236
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

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 2s22 TRAPPC11

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053766.4CAPN3, DYSF, FKRP, SGCA, TCAP, TRIM32
2MP:00053696.4CAPN3, DYSF, FKRP, SGCA, SGCB, TCAP

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:

67
id Symbol AA change Variation ID SNP ID
1SGCBp.Arg91LeuVAR_010391
2SGCBp.Arg91ProVAR_010392rs28936384
3SGCBp.Met100LysVAR_010393rs28936386
4SGCBp.Leu108ArgVAR_010394
5SGCBp.Thr151ArgVAR_010395rs28936383
6SGCBp.Arg91CysVAR_010422
7SGCBp.Ile119PheVAR_010424
8SGCBp.Gly167SerVAR_010426
9TRAPPC11p.Gly980ArgVAR_070158

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

5 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1SGCBNM_000232.4(SGCB): c.32dupA (p.Gln12Alafs)duplicationPathogenicrs796065319GRCh37Chr 4, 52904394: 52904394
2SGCBNM_000232.4(SGCB): c.341C> T (p.Ser114Phe)single nucleotide variantPathogenicrs150518260GRCh37Chr 4, 52895932: 52895932
3TRAPPC11NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg)single nucleotide variantPathogenicrs397509417GRCh37Chr 4, 184622936: 184622936
4TRAPPC11NM_021942.5(TRAPPC11): c.1287+5G> Asingle nucleotide variantPathogenicrs397509418GRCh37Chr 4, 184605212: 184605212
5SGCBNM_000232.4(SGCB): c.452C> G (p.Thr151Arg)single nucleotide variantPathogenicrs28936383GRCh37Chr 4, 52895065: 52895065
6SGCBNM_000232.4(SGCB): c.552T> G (p.Tyr184Ter)single nucleotide variantPathogenicrs104893868GRCh37Chr 4, 52894965: 52894965
7SGCBSGCB, 8-BP DUP, NT383duplicationPathogenic
8SGCBSGCB, 2-BP DEL, NT465deletionPathogenic
9SGCBNM_000232.4(SGCB): c.272G> C (p.Arg91Pro)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
10SGCBNM_000232.4(SGCB): c.323T> G (p.Leu108Arg)single nucleotide variantPathogenicrs104893870GRCh37Chr 4, 52895950: 52895950
11SGCBNM_000232.4(SGCB): c.299T> A (p.Met100Lys)single nucleotide variantPathogenicrs104893871GRCh37Chr 4, 52895974: 52895974
12SGCBNM_000232.4(SGCB): c.272G> T (p.Arg91Leu)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
13SGCBSGCB, 4-BP DEL, 243+3GAGTdeletionPathogenic
14SGCBNM_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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Pathways related to Muscular Dystrophy, Limb-Girdle, Type 2e according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.5TCAP, TTN
2
Show member pathways
9.2SGCA, SGCB, 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
1dystrophin-associated glycoprotein complexGO:00160109.4FKRP, SGCA, SGCB
2sarcolemmaGO:00423838.8DYSF, FKRP, SGCB
3T-tubuleGO:00303158.7CAPN3, DYSF

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

idNameGO IDScoreTop Affiliating Genes
1cardiac myofibril assemblyGO:00550039.8TCAP, TTN
2sarcomerogenesisGO:00487699.8TCAP, TTN
3muscle filament slidingGO:00300499.6TCAP, TTN
4cardiac muscle contractionGO:00600489.5TCAP, TTN
5positive regulation of NF-kappaB transcription factor activityGO:00510929.5CAPN3, TRIM32
6sarcomere organizationGO:00452149.4CAPN3, TTN

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

idNameGO IDScoreTop Affiliating Genes
1protein self-associationGO:00436219.6TRIM32, TTN

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet