Details of Disease | DrugMAP

General Information of Disease (ID: DISYXAK6)

Disease Name	Neurodegeneration, childhood-onset, with progressive microcephaly
Disease Hierarchy	DISM20FF: Neurodegenerative disease DISYXAK6: Neurodegeneration, childhood-onset, with progressive microcephaly
Disease Identifiers	MONDO ID MONDO_0859241 UMLS CUI C5676972 OMIM ID 619847 MedGen ID 1801540

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
DTYMK	DEOTVYU	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
DTYMK	OTJXYQYK	Strong	Autosomal recessive	[1]
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References

1	Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome. Clin Chim Acta. 2019 Sep;496:93-99. doi: 10.1016/j.cca.2019.06.028. Epub 2019 Jul 2.