Details of Disease | DrugMAP

General Information of Disease (ID: DISQPO4L)

Disease Name	Microcephaly 3, primary, autosomal recessive
Synonyms	MCPH3; CDK5RAP2 autosomal recessive primary microcephaly; microcephaly 3, primary, autosomal recessive; autosomal recessive primary microcephaly caused by mutation in CDK5RAP2
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene.
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISQPO4L: Microcephaly 3, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0011488 MESH ID C565746 UMLS CUI C1858108 OMIM ID 604804 MedGen ID 347619

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
CDK5RAP2	OTRKEVTY	Strong	Autosomal recessive	[1]
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References

1	CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. J Med Genet. 2020 Jun;57(6):389-399. doi: 10.1136/jmedgenet-2019-106474. Epub 2020 Feb 3.