MCID: MSC114
MIFTS: 26

Muscular Dystrophy, Limb-Girdle, Type 2e malady

Genetic diseases, Rare diseases, Neuronal diseases, Muscle diseases, Metabolic diseases categories

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

About this section
Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 26ICD10 via Orphanet
See all sources

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

Name: Muscular Dystrophy, Limb-Girdle, Type 2e 45 10
Beta-Sarcoglycanopathy 41 47 60
Lgmd2e 41 43 47
Limb-Girdle Muscular Dystrophy Due to Beta-Sarcoglycan Deficiency 41 47
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2e 41 47
Muscular Dystrophy Limb-Girdle with Beta-Sarcoglycan Deficiency 41
 
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2s 47
Beta-Sarcoglycan Limb-Girdle Muscular Dystrophy 41
Muscular Dystrophy, Limb-Girdle, Type 2s 45
Limb-Girdle Muscular Dystrophy, Type 2e 60
Limb-Girdle Muscular Dystrophy Type 2e 41
Lgmd2s 47


Classifications:



Characteristics (Orphanet epidemiological data):

47
autosomal recessive limb-girdle muscular dystrophy type 2s:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood
beta-sarcoglycanopathy:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Childhood


External Ids:

Orphanet47 369840, 119
ICD10 via Orphanet26 G71.0

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

About this section


OMIM:45 LGMD2S is an autosomal recessive disorder characterized by childhood-onset of proximal muscle weakness resulting in... (615356) more...

MalaCards based summary: Muscular Dystrophy, Limb-Girdle, Type 2e, also known as beta-sarcoglycanopathy, is related to limb-girdle muscular dystrophy and muscular dystrophy, and has symptoms including dilated cardiomyopathy, autosomal recessive inheritance and elevated serum creatine phosphokinase. An important gene associated with Muscular Dystrophy, Limb-Girdle, Type 2e is TRAPPC11 (trafficking protein particle complex 11).

Description from OMIM:45 604286

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

About this section

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 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
Muscular Dystrophy, Limb-Girdle, Type Ic Limb-Girdle Muscular Dystrophies, Autosomal Dominant
Limb-Girdle Muscular Dystrophy Type 1d Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2j
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2q Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2p
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2m Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2l
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2o Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2n
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1h Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2t
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2c Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1c
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1f Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1g
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2i Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1d
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1e Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2k

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

idRelated DiseaseScoreTop Affiliating Genes
1limb-girdle muscular dystrophy10.9
2muscular dystrophy10.9
3beta-sarcoglycanopathy10.6
4sarcoglycanopathies10.4
5muscular dystrophy, limb-girdle, type 2a10.1
6calpainopathy10.0
7walker-warburg syndrome10.0
8mental retardation10.0

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

About this section

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 autosomal recessive inheritance HP:0000007
3 elevated serum creatine phosphokinase HP:0003236
4 limb-girdle muscle weakness HP:0003325
5 juvenile onset HP:0003621
6 scapular winging HP:0003691
7 calf muscle pseudohypertrophy HP:0003707
8 shoulder girdle muscle atrophy HP:0003724
9 proximal amyotrophy HP:0007126
10 pelvic girdle muscle atrophy HP:0008988
11 microcephaly HP:0000252
12 strabismus HP:0000486
13 cataract HP:0000518
14 myopia HP:0000545
15 ataxia HP:0001251
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 phenotypic variability HP:0003812
27 short stature HP:0004322

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

About this section

Drug clinical trials:

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

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

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

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

62
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:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1TRAPPC11NM_021942.5(TRAPPC11): c.2938G> A (p.Gly980Arg)single nucleotide variantPathogenicrs397509417GRCh37Chr 4, 184622936: 184622936
2TRAPPC11NM_021942.5(TRAPPC11): c.1287+5G> Asingle nucleotide variantPathogenicrs397509418GRCh37Chr 4, 184605212: 184605212
3SGCBNM_000232.4(SGCB): c.452C> G (p.Thr151Arg)single nucleotide variantPathogenicrs28936383GRCh37Chr 4, 52895065: 52895065
4SGCBNM_000232.4(SGCB): c.552T> G (p.Tyr184Ter)single nucleotide variantPathogenicrs104893868GRCh37Chr 4, 52894965: 52894965
5SGCBSGCB, 8-BP DUP, NT383duplicationPathogenic
6SGCBSGCB, 2-BP DEL, NT465deletionPathogenic
7SGCBNM_000232.4(SGCB): c.272G> C (p.Arg91Pro)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
8SGCBNM_000232.4(SGCB): c.323T> G (p.Leu108Arg)single nucleotide variantPathogenicrs104893870GRCh37Chr 4, 52895950: 52895950
9SGCBNM_000232.4(SGCB): c.299T> A (p.Met100Lys)single nucleotide variantPathogenicrs104893871GRCh37Chr 4, 52895974: 52895974
10SGCBNM_000232.4(SGCB): c.272G> T (p.Arg91Leu)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
11SGCBSGCB, 4-BP DEL, 243+3GAGTdeletionPathogenic

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

About this section
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet