Details of Disease | DrugMAP

General Information of Disease (ID: DISCM9U2)

Disease Name	Neurodevelopmental disorder with visual defects and brain anomalies
Synonyms	NEDVIBA; NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISCM9U2: Neurodevelopmental disorder with visual defects and brain anomalies
Disease Identifiers	MONDO ID MONDO_0032807 UMLS CUI C5231404 OMIM ID 618547 MedGen ID 1684774

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HK1	DEDMAGE	Strong	Autosomal dominant	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HK1	OTMPHE8O	Strong	Autosomal dominant	[1]
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References

1	De novo variants in HK1 associated with neurodevelopmental abnormalities and visual impairment. Eur J Hum Genet. 2019 Jul;27(7):1081-1089. doi: 10.1038/s41431-019-0366-9. Epub 2019 Feb 18.