MCID: BTS001
MIFTS: 16

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 45 22 24 65
Muscular Dystrophy, Limb-Girdle, Type 2s 65
 
Lgmd2e 22

Classifications:



External Ids:

UMLS65 C2930900, C3809236

Summaries for Beta-Sarcoglycanopathy

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MalaCards based summary: Beta-Sarcoglycanopathy, also known as muscular dystrophy, limb-girdle, type 2s, is related to muscular dystrophy, limb-girdle, type 2e and sarcoglycanopathies, and has symptoms including myalgia, tremor and muscle cramp. 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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UMLS symptoms related to Beta-Sarcoglycanopathy:


myalgia, tremor, muscle cramp, athetosis, ataxia

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-Sarcoglycanopathy22 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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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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet