Details of Disease | DrugMAP

General Information of Disease (ID: DISUGKEM)

Disease Name	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Synonyms	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS; NEDNEH
Disease Hierarchy	DISYOKTG: Mendelian neurodevelopmental disorder DISUGKEM: Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements
Disease Identifiers	MONDO ID MONDO_0032784 UMLS CUI C5193128 OMIM ID 618497 MedGen ID 1678038

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNA1B	DTMKD76	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CACNA1B	OTRM0XDW	Strong	Autosomal recessive	[1]
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References

1	Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11.