Details of Disease

General Information of Disease (ID: DISGQSF5)

Disease Name Myoclonic dystonia 26
Synonyms DYT26; dystonia 26, myoclonic; myoclonus-dystonia syndrome caused by mutation in KCTD17; KCTD17 myoclonus-dystonia syndrome; myoclonic dystonia type 26
Definition Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the KCTD17 gene.
Disease Hierarchy
DISYK06B: Myoclonus-dystonia syndrome
DISGQSF5: Myoclonic dystonia 26
Disease Identifiers
MONDO ID
MONDO_0014620
UMLS CUI
C4225341
OMIM ID
616398
MedGen ID
904244

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
KCTD17 OTESMJSS Strong Autosomal dominant [1]
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References

1 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.