Details of Disease

General Information of Disease (ID: DISTWCEP)

Disease Name Qualitative or quantitative defects of beta-sarcoglycan
Synonyms beta-sarcoglycanopathy
Disease Hierarchy
DISD715V: Hereditary neurological disease
:
DISTWCEP: Qualitative or quantitative defects of beta-sarcoglycan
Disease Identifiers
MONDO ID
MONDO_0016142
MESH ID
C535435
UMLS CUI
C2930900
MedGen ID
418943
Orphanet ID
207063

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SGCB TTEDCQ0 moderate Genetic Variation [1]
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References

1 Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.Neurology. 2015 Apr 28;84(17):1772-81. doi: 10.1212/WNL.0000000000001519. Epub 2015 Apr 10.