MCID: BTS001
MIFTS: 12

Beta-Sarcoglycanopathy malady

Categories: Genetic diseases, Rare diseases, Muscle diseases

Aliases & Classifications for Beta-Sarcoglycanopathy

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Aliases & Descriptions for Beta-Sarcoglycanopathy:

Name: Beta-Sarcoglycanopathy 46 23 25 66
Limb-Girdle Muscular Dystrophy, Type 2e 66
 
Lgmd2e 23

Classifications:



Summaries for Beta-Sarcoglycanopathy

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MalaCards based summary: Beta-Sarcoglycanopathy, also known as limb-girdle muscular dystrophy, type 2e, is related to muscular dystrophy, limb-girdle, type 2e and sarcoglycanopathies. An important gene associated with Beta-Sarcoglycanopathy is SGCB (Sarcoglycan Beta).

Related Diseases for Beta-Sarcoglycanopathy

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Diseases in the Sarcoglycanopathies family:

beta-sarcoglycanopathy Delta-Sarcoglycanopathy

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

idRelated DiseaseScoreTop Affiliating Genes
1muscular dystrophy, limb-girdle, type 2e11.4
2sarcoglycanopathies10.2
3myoglobinuria10.0

Symptoms for Beta-Sarcoglycanopathy

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Drugs & Therapeutics for Beta-Sarcoglycanopathy

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Beta-Sarcoglycanopathy

Genetic Tests for Beta-Sarcoglycanopathy

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Genetic tests related to Beta-Sarcoglycanopathy:

id Genetic test Affiliating Genes
1 Beta-Sarcoglycanopathy25 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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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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Clinvar genetic disease variations for Beta-Sarcoglycanopathy:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_001267578.1(TOR1AIP1): c.186delG (p.Glu62Aspfs)deletionPathogenicGRCh38Chr 1, 179882688: 179882688

Expression for genes affiliated with Beta-Sarcoglycanopathy

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

Pathways for genes affiliated with Beta-Sarcoglycanopathy

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GO Terms for genes affiliated with Beta-Sarcoglycanopathy

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Sources for Beta-Sarcoglycanopathy

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet