Details of Disease

General Information of Disease (ID: DISMVAWP)

Disease Name Myoclonic dystonia 11
Synonyms
dystonia, alcohol-responsive; DYT11; myoclonic dystonia; myoclonus-dystonia syndrome; dystonia 11, myoclonic; myoclonus, hereditary essential; SGCE myoclonus-dystonia syndrome; dystonia-11, myoclonic; myoclonus-dystonia syndrome caused by mutation in SGCE; myoclonic dystonia 11; myoclonic dystonia type 11; alcohol-responsive dystonia
Definition Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.
Disease Hierarchy
DISYK06B: Myoclonus-dystonia syndrome
DISMVAWP: Myoclonic dystonia 11
Disease Identifiers
MONDO ID
MONDO_0008044
MESH ID
C536096
UMLS CUI
C1834570
OMIM ID
159900
MedGen ID
331778
SNOMED CT ID
439732004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DRD2 TTEX248 Limited Genetic Variation [1]
GCH1 TTLSWP6 Limited Biomarker [2]
ADCY5 TTN64VU Strong Genetic Variation [3]
TOR1A TTF85KW Strong Genetic Variation [4]
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This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ATP1A3 OTM8EG6H Strong Biomarker [5]
KCTD17 OTESMJSS Strong GermlineCausalMutation [6]
SGCZ OTVGTEOD Strong Genetic Variation [7]
SLITRK1 OT1QQ7FR Strong Genetic Variation [8]
SGCE OT9F17JB Definitive Autosomal dominant [9]
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References

1 Reduced striatal D2 receptor binding in myoclonus-dystonia.Eur J Nucl Med Mol Imaging. 2009 Feb;36(2):269-74. doi: 10.1007/s00259-008-0924-9. Epub 2008 Aug 22.
2 Myoclonus-dystonia: Distinctive motor and non-motor phenotype from other dystonia syndromes.Parkinsonism Relat Disord. 2019 Dec;69:85-90. doi: 10.1016/j.parkreldis.2019.10.015. Epub 2019 Oct 22.
3 ADCY5-related dyskinesia presenting as familial myoclonus-dystonia.Neurogenetics. 2017 Apr;18(2):111-117. doi: 10.1007/s10048-017-0510-z. Epub 2017 Feb 22.
4 Deep brain stimulation for myoclonus-dystonia syndrome with double mutations in DYT1 and DYT11.Sci Rep. 2017 Jan 19;7:41042. doi: 10.1038/srep41042.
5 Progressive dystonia.Handb Clin Neurol. 2013;113:1889-97. doi: 10.1016/B978-0-444-59565-2.00059-9.
6 A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14.
7 SGCZ mutations are unlikely to be associated with myoclonus dystonia.Neuroscience. 2014 Jul 11;272:88-91. doi: 10.1016/j.neuroscience.2014.04.034. Epub 2014 Apr 30.
8 Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.Mov Disord. 2007 Oct 31;22(14):2090-6. doi: 10.1002/mds.21674.
9 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.