Details of Disease

General Information of Disease (ID: DIS7UBD2)

Disease Name Neurodevelopmental disorder with dystonia and seizures
Disease Hierarchy
DIS372XH: Neurodevelopmental disorder
DIS7UBD2: Neurodevelopmental disorder with dystonia and seizures
Disease Identifiers
MONDO ID
MONDO_0859258
UMLS CUI
C5677004
OMIM ID
619922
MedGen ID
1804461

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
SHQ1 OTFBXX2H Strong Autosomal recessive [1]
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References

1 Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita. Mol Genet Genomic Med. 2017 Nov;5(6):805-808. doi: 10.1002/mgg3.314. Epub 2017 Aug 15.