MCID: LMB015
MIFTS: 28

Limb-Girdle Muscular Dystrophy Type 2e malady

Neuronal diseases, Muscle diseases categories

Summaries for Limb-Girdle Muscular Dystrophy Type 2e

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46OMIM, 32MalaCards
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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:46 604286

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

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Sources:
42NIH Rare Diseases, 22GTR, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
lgmd2e:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Childhood


Aliases & Descriptions:

limb-girdle muscular dystrophy type 2e 42 22
lgmd2e 42 44 48
beta-sarcoglycanopathy 48 60
limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency 48
muscular dystrophy limb-girdle with beta-sarcoglycan deficiency 42
autosomal recessive limb-girdle muscular dystrophy type 2e 48
beta-sarcoglycan limb-girdle muscular dystrophy 42
muscular dystrophy, limb-girdle, type 2e 46
limb-girdle muscular dystrophy, type 2e 60


External Ids:

OMIM46 604286
ICD10 via Orphanet26 G71.0

Related Diseases for Limb-Girdle Muscular Dystrophy Type 2e

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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

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46OMIM
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Clinical features from OMIM:

604286

Clinical synopsis from OMIM:

604286

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

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-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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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

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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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Genetic Variations for Limb-Girdle Muscular Dystrophy Type 2e

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Limb-Girdle Muscular Dystrophy 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

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

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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

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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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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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet