Details of Disease | DrugMAP

General Information of Disease (ID: DIS682TW)

Disease Name	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Synonyms	Leuden Syndrome; LEUDEN; leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome; LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME
Disease Hierarchy	DISYKSRF: Genetic disease DIS682TW: Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome
Disease Identifiers	MONDO ID MONDO_0030035 UMLS CUI C5394367 OMIM ID 618877 MedGen ID 1719567

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EIF2AK2	TTXEZJ4	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
EIF2AK2	OT8DXMS3	Strong	Autosomal dominant	[1]
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References

1	The contribution of de novo coding mutations to autism spectrum disorder. Nature. 2014 Nov 13;515(7526):216-21. doi: 10.1038/nature13908. Epub 2014 Oct 29.