MCID: LMB015
MIFTS: 31

Limb-Girdle Muscular Dystrophy Type 2e malady

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

Summaries for Limb-Girdle Muscular Dystrophy Type 2e

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48OMIM, 34MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 2e, also known as lgmd2e, is related to limb-girdle muscular dystrophy and muscular dystrophy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 2e is SGCB (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)).

Description from OMIM:48 604286

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

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Sources:
50Orphanet, 63UMLS, 44NIH Rare Diseases, 23GTR, 46Novoseek, 48OMIM, 27ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Neuronal diseases, Muscle diseases


Characteristics (Orphanet epidemiological data):

50
lgmd2e:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2e 44 23
lgmd2e 44 46 50
beta-sarcoglycanopathy 50 63
limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency 50
muscular dystrophy limb-girdle with beta-sarcoglycan deficiency 44
autosomal recessive limb-girdle muscular dystrophy type 2e 50
beta-sarcoglycan limb-girdle muscular dystrophy 44
muscular dystrophy, limb-girdle, type 2e 48
limb-girdle muscular dystrophy, type 2e 63


External Ids:

OMIM48 604286
ICD10 via Orphanet27 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 2e

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Limb-Girdle Muscular Dystrophy Type 2e:



Diseases related to limb-girdle muscular dystrophy type 2e

Symptoms for Limb-Girdle Muscular Dystrophy Type 2e

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48OMIM
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Symptoms by clinical synopsis from OMIM:

604286

Clinical features from OMIM:

604286

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 2e

Drug clinical trials:

Search ClinicalTrials for Limb-Girdle Muscular Dystrophy Type 2e

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

Search CenterWatch for Limb-Girdle Muscular Dystrophy Type 2e

Genetic Tests for Limb-Girdle Muscular Dystrophy Type 2e

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23GTR
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Genetic tests related to Limb-Girdle Muscular Dystrophy Type 2e:

id Genetic test Affiliating Genes
1 Limb-Girdle Muscular Dystrophy, Type 2e23

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2e

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

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Publications for Limb-Girdle Muscular Dystrophy Type 2e

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53PubMed
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Articles related to Limb-Girdle Muscular Dystrophy Type 2e:

idTitleAuthorsYear
1
Two siblings with limb-girdle muscular dystrophy type 2E responsive to deflazacort. (20071171)
2010
2
Homozygous microdeletion of chromosome 4q11-q12 causes severe limb-girdle muscular dystrophy type 2E with joint hyperlaxity and contractures. (16088906)
2005
3
Disruption of the beta-sarcoglycan gene reveals pathogenetic complexity of limb-girdle muscular dystrophy type 2E. (10678176)
2000
4
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E). (8968749)
1996

Variations for Limb-Girdle Muscular Dystrophy Type 2e

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Limb-Girdle Muscular Dystrophy Type 2e:

65
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

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

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

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

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Limb-Girdle Muscular Dystrophy Type 2e

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

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

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

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

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17Gene Ontology
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Cellular components related to Limb-Girdle Muscular Dystrophy Type 2e according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cytoplasmGO:0057379.1SGCB, SPATA18

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy Type 2e

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet