Details of Disease | DrugMAP

General Information of Disease (ID: DISH9D3D)

Disease Name	Microcephaly and chorioretinopathy 2
Synonyms	MCCRP2; microcephaly and chorioretinopathy, autosomal recessive, 2; PLK4 microcephaly and chorioretinopathy; microcephaly and chorioretinopathy type 2; microcephaly and chorioretinopathy caused by mutation in PLK4; microcephaly and chorioretinopathy, autosomal recessive, type 2
Definition	Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene.
Disease Hierarchy	DISCPWH9: Autosomal recessive disease DIS4YCDH: Microcephaly and chorioretinopathy DISH9D3D: Microcephaly and chorioretinopathy 2
Disease Identifiers	MONDO ID MONDO_0014516 UMLS CUI C4015388 OMIM ID 616171 MedGen ID 863825

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PLK4	TTGPNZQ	Strong	Biomarker	[1]
PLK4	TTGPNZQ	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PLK4	OTV8KZDZ	Definitive	Autosomal recessive	[1]
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References

1	Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy. Nat Genet. 2014 Dec;46(12):1283-1292. doi: 10.1038/ng.3122. Epub 2014 Oct 26.