Details of Disease | DrugMAP

General Information of Disease (ID: DIS71V6D)

Disease Name	Microcephaly 12, primary, autosomal recessive
Synonyms	MCPH12; microcephaly 12, primary, autosomal recessive; CDK6 autosomal recessive primary microcephaly; autosomal recessive primary microcephaly caused by mutation in CDK6
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene.
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DIS71V6D: Microcephaly 12, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0014484 UMLS CUI C4015156 OMIM ID 616080 MedGen ID 863593

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
CDK6	TTO0FDJ	Limited	Unknown	[1]
CDK6	TTO0FDJ	Limited	Biomarker	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CDK6	OTR95N0X	Limited	Unknown	[1]
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References

1	CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly. Hum Mol Genet. 2013 Dec 20;22(25):5199-214. doi: 10.1093/hmg/ddt374. Epub 2013 Aug 4.