Details of Disease | DrugMAP

General Information of Disease (ID: DISMC1NE)

Disease Name	Microcephaly, epilepsy, and diabetes syndrome
Disease Hierarchy	DISYKSRF: Genetic disease DISMC1NE: Microcephaly, epilepsy, and diabetes syndrome
Disease Identifiers	MONDO ID MONDO_0100328 UMLS CUI C3280240 OMIM ID 614231 MedGen ID 481870 Orphanet ID 306558

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
IER3IP1	OTCYSU28	Limited	Biomarker	[1]
COL12A1	OTHLTV53	Strong	Biomarker	[2]
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References

1	Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.Pediatr Diabetes. 2014 May;15(3):252-6. doi: 10.1111/pedi.12086. Epub 2013 Oct 21.
2	Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects.Muscle Nerve. 2017 Feb;55(2):277-281. doi: 10.1002/mus.25232. Epub 2016 Nov 30.