Details of Disease | DrugMAP

General Information of Disease (ID: DISK2F5H)

Disease Name	Obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISK2F5H: Obsolete primary microcephaly-epilepsy-permanent neonatal diabetes syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
YIPF5	OT07035C	Supportive	Autosomal recessive	[1]
IER3IP1	OTCYSU28	Strong	Autosomal recessive	[2]
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References

1	YIPF5 mutations cause neonatal diabetes and microcephaly: progress for precision medicine and mechanistic understanding. J Clin Invest. 2020 Dec 1;130(12):6228-6231. doi: 10.1172/JCI142364.
2	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.