Details of Disease | DrugMAP

General Information of Disease (ID: DISG08IV)

Disease Name	Myoclonus, intractable, neonatal
Synonyms	myoclonus, intractable, neonatal; NEIMY; myoclonus, intractable, neonatal; NEIMY
Disease Hierarchy	DISYKSRF: Genetic disease DISG08IV: Myoclonus, intractable, neonatal
Disease Identifiers	MONDO ID MONDO_0014979 UMLS CUI C4310658 OMIM ID 617235 MedGen ID 934625

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
KIF5A	TTCJPAH	Strong	Biomarker	[1]
KIF5A	TTCJPAH	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
KIF5A	OT3ETTI6	Definitive	Autosomal dominant	[2]
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References

1	Mitochondrial medicine in the omics era.Lancet. 2018 Jun 23;391(10139):2560-2574. doi: 10.1016/S0140-6736(18)30727-X. Epub 2018 Jun 18.
2	KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction. Ann Neurol. 2016 Oct;80(4):633-7. doi: 10.1002/ana.24744. Epub 2016 Aug 24.