Details of Disease

General Information of Disease (ID: DISHWWOS)

Disease Name Dystonia 28, childhood-onset
Synonyms KMT2B dystonic disorder; DYT28; dystonia 28, childhood-onset; dystonia 28, childhood-onset; DYT28; dystonic disorder caused by mutation in KMT2B
Definition Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene.
Disease Hierarchy
DISEIJV9: Inherited dystonia
DISHWWOS: Dystonia 28, childhood-onset
Disease Identifiers
MONDO ID
MONDO_0015004
UMLS CUI
C4310633
OMIM ID
617284
MedGen ID
934600
Orphanet ID
589618
SNOMED CT ID
1281844004

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
KMT2B OTMMAZQX Definitive Autosomal dominant [1]
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References

1 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.