Details of Disease | DrugMAP

General Information of Disease (ID: DIS01UEV)

Disease Name	Microcephaly 26, primary, autosomal dominant
Synonyms	MCPH26; microcephaly 26, primary, autosomal dominant
Disease Hierarchy	DIS7WS7S: Autosomal dominant primary microcephaly DIS01UEV: Microcephaly 26, primary, autosomal dominant
Disease Identifiers	MONDO ID MONDO_0030928 UMLS CUI C5543048 OMIM ID 619179 MedGen ID 1779629

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
LMNB1	OT100T3P	Strong	Autosomal dominant	[1]
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References

1	De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. Am J Hum Genet. 2020 Oct 1;107(4):753-762. doi: 10.1016/j.ajhg.2020.08.015. Epub 2020 Sep 9.