Details of Disease | DrugMAP

General Information of Disease (ID: DISLC5RW)

Disease Name	Microcephaly, epilepsy, and diabetes syndrome 2
Synonyms	MEDS2
Disease Hierarchy	DISMC1NE: Microcephaly, epilepsy, and diabetes syndrome DISLC5RW: Microcephaly, epilepsy, and diabetes syndrome 2
Disease Identifiers	MONDO ID MONDO_0025690 UMLS CUI C5543294 OMIM ID 619278 MedGen ID 1782107

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

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

1	YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress. J Clin Invest. 2020 Dec 1;130(12):6338-6353. doi: 10.1172/JCI141455.