Details of Disease | DrugMAP

General Information of Disease (ID: DISB295G)

Disease Name	Okur-Chung neurodevelopmental syndrome
Synonyms	Okur-Chung neurodevelopmental syndrome; Okur-Chung neurodevelopmental syndrome; OCNDS; OCNDS
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISB295G: Okur-Chung neurodevelopmental syndrome
Disease Identifiers	MONDO ID MONDO_0014893 UMLS CUI C4310739 OMIM ID 617062 MedGen ID 934706

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CSNK2A1	TTER6YH	Limited	Genetic Variation	[1]
CSNK2A1	TTER6YH	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CSNK2A1	OT9T8WQM	Definitive	Autosomal dominant	[2]
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References

1	Okur-Chung neurodevelopmental syndrome in a patient from Spain.Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15.
2	De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features. Hum Genet. 2016 Jul;135(7):699-705. doi: 10.1007/s00439-016-1661-y. Epub 2016 Apr 5.