Details of Disease

General Information of Disease (ID: DISOACMU)

Disease Name Segmental dystonia
Definition A dystonia that affects two or more adjacent parts of the body.
Disease Hierarchy
DISJLFGW: Dystonia
DISOACMU: Segmental dystonia
Disease Identifiers
MONDO ID
MONDO_0000479
UMLS CUI
C1997740
MedGen ID
744778
SNOMED CT ID
427945008

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
TOR1A TTF85KW moderate Genetic Variation [1]
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This Disease Is Related to 6 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SGCE OT9F17JB moderate Biomarker [2]
THAP1 OTIWUSON moderate Genetic Variation [3]
ARSG OTT7TDW7 Strong Genetic Variation [4]
GNAL OTESDTEU Strong Genetic Variation [5]
PRKRA OTUTVZZU Strong Genetic Variation [6]
TOR1B OTNEL2PZ Strong Genetic Variation [7]
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⏷ Show the Full List of 6 DOT(s)

References

1 TOR1A polymorphisms in a Russian cohort with primary focal/segmental dystonia.Int J Neurosci. 2015;125(9):671-7. doi: 10.3109/00207454.2014.962653. Epub 2014 Oct 2.
2 Genomic deletion size at the epsilon-sarcoglycan locus determines the clinical phenotype.Brain. 2007 Oct;130(Pt 10):2736-45. doi: 10.1093/brain/awm209.
3 Long-term effect on dystonia after pallidal deep brain stimulation (DBS) in three members of a family with a THAP1 mutation.J Neurol. 2015 Dec;262(12):2739-44. doi: 10.1007/s00415-015-7908-z. Epub 2015 Oct 20.
4 Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?.Mov Disord. 2014 Jun;29(7):921-7. doi: 10.1002/mds.25791. Epub 2013 Dec 26.
5 Role of G(olf) in familial and sporadic adult-onset primary dystonia.Hum Mol Genet. 2013 Jun 15;22(12):2510-9. doi: 10.1093/hmg/ddt102. Epub 2013 Feb 27.
6 DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family.Mov Disord. 2014 Oct;29(12):1504-10. doi: 10.1002/mds.25981. Epub 2014 Aug 20.
7 Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia.Mov Disord. 2010 Oct 15;25(13):2183-7. doi: 10.1002/mds.23225.