MCID: LMB015
MIFTS: 20

Limb-Girdle Muscular Dystrophy Type 2e malady

Neuronal, Muscle categories

Summaries for Limb-Girdle Muscular Dystrophy Type 2e

Sources:
47OMIM, 33MalaCards
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MalaCards: Limb-Girdle Muscular Dystrophy Type 2e, also known as lgmd2e, is related to limb-girdle muscular dystrophy and beta-sarcoglycanopathy. An important gene associated with Limb-Girdle Muscular Dystrophy Type 2e is SGCB (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)).

Description from OMIM:47 604286

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

Sources:
43NIH Rare Diseases, 22GTR, 45Novoseek, 49Orphanet, 61UMLS, 47OMIM, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Muscle


Characteristics (Orphanet epidemiological data):

49
lgmd2e:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2e 43 22
lgmd2e 43 45 49
beta-sarcoglycanopathy 49 61
limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency 49
muscular dystrophy limb-girdle with beta-sarcoglycan deficiency 43
autosomal recessive limb-girdle muscular dystrophy type 2e 49
beta-sarcoglycan limb-girdle muscular dystrophy 43
muscular dystrophy, limb-girdle, type 2e 47
limb-girdle muscular dystrophy, type 2e 61


External Ids:

OMIM47 604286
ICD10 via Orphanet26 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 2e

Sources:
17GeneCards, 18GeneDecks
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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

Clinical Features for Limb-Girdle Muscular Dystrophy Type 2e

Sources:
47OMIM
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Clinical features from OMIM:

604286

Clinical synopsis from OMIM:

604286

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-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

Sources:
22GTR
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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 2e22

Anatomical Context for Limb-Girdle Muscular Dystrophy Type 2e

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

Sources:
28inGenious Targeting Laboratory
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Publications for Limb-Girdle Muscular Dystrophy Type 2e

Genetic Variations for Limb-Girdle Muscular Dystrophy Type 2e

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy Type 2e:

63
id Symbol AA change Variation 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

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

Sources:
1BioGPS, 15Gene 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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Limb-Girdle Muscular Dystrophy Type 2e

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet