MCID: BTS001
MIFTS: 15

Beta-Sarcoglycanopathy malady

Genetic diseases, Rare diseases, Muscle diseases categories

Summaries for Beta-Sarcoglycanopathy

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34MalaCards
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MalaCards: Beta-Sarcoglycanopathy, also known as limb-girdle muscular dystrophy, type 2e, is related to sarcoglycanopathies and limb-girdle muscular dystrophy type 2e. An important gene associated with Beta-Sarcoglycanopathy is SGCB (sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)).

Aliases & Classifications for Beta-Sarcoglycanopathy

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Sources:
44NIH Rare Diseases, 21GeneTests, 23GTR, 63UMLS
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Classifications:

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


Aliases & Descriptions:

beta-sarcoglycanopathy 44 21 23 63
limb-girdle muscular dystrophy, type 2e 63


Related Diseases for Beta-Sarcoglycanopathy

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18GeneCards, 19GeneDecks
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Diseases in the Beta-Sarcoglycanopathy family:

Delta-Sarcoglycanopathy Sarcoglycanopathies

Diseases related to Beta-Sarcoglycanopathy via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1sarcoglycanopathies10.4
2limb-girdle muscular dystrophy type 2e10.3

Symptoms for Beta-Sarcoglycanopathy

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Drugs & Therapeutics for Beta-Sarcoglycanopathy

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Beta-Sarcoglycanopathy

Drug clinical trials:

Search ClinicalTrials for Beta-Sarcoglycanopathy

Search NIH Clinical Center for Beta-Sarcoglycanopathy

Search CenterWatch for Beta-Sarcoglycanopathy

Genetic Tests for Beta-Sarcoglycanopathy

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21GeneTests, 23GTR
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Genetic tests related to Beta-Sarcoglycanopathy:

id Genetic test Affiliating Genes
1 Beta-Sarcoglycanopathy21 23 SGCB

Anatomical Context for Beta-Sarcoglycanopathy

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Animal Models for Beta-Sarcoglycanopathy or affiliated genes

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Publications for Beta-Sarcoglycanopathy

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Sources:
53PubMed
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Articles related to Beta-Sarcoglycanopathy:

idTitleAuthorsYear
1
Beta-sarcoglycanopathy. (15684453)
2005
2
Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family. (15938574)
2004
3
Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria. (11369190)
2001

Variations for Beta-Sarcoglycanopathy

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Beta-Sarcoglycanopathy:

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
3SGCBNM_000232.4(SGCB): c.272G> C (p.Arg91Pro)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001
4SGCBNM_000232.4(SGCB): c.323T> G (p.Leu108Arg)single nucleotide variantPathogenicrs104893870GRCh37Chr 4, 52895950: 52895950
5SGCBNM_000232.4(SGCB): c.299T> A (p.Met100Lys)single nucleotide variantPathogenicrs104893871GRCh37Chr 4, 52895974: 52895974
6SGCBNM_000232.4(SGCB): c.272G> T (p.Arg91Leu)single nucleotide variantPathogenicrs104893869GRCh37Chr 4, 52896001: 52896001

Expression for genes affiliated with Beta-Sarcoglycanopathy

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Beta-Sarcoglycanopathy

Search GEO for disease gene expression data for Beta-Sarcoglycanopathy.

Pathways for genes affiliated with Beta-Sarcoglycanopathy

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Compounds for genes affiliated with Beta-Sarcoglycanopathy

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GO Terms for genes affiliated with Beta-Sarcoglycanopathy

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Products for genes affiliated with Beta-Sarcoglycanopathy

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Beta-Sarcoglycanopathy

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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