Details of Disease

General Information of Disease (ID: DIS07CMQ)

• Disease Name: Microcephaly 11, primary, autosomal recessive
• Synonyms: MCPH11; autosomal recessive primary microcephaly caused by mutation in PHC1; microcephaly 11, primary, autosomal recessive; PHC1 autosomal recessive primary microcephaly
• Definition: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene.
• Disease Hierarchy:
  DIS29IE3: Autosomal recessive primary microcephaly
  DIS07CMQ: Microcephaly 11, primary, autosomal recessive
• Disease Identifiers:
  MONDO ID: MONDO_0014173
  UMLS CUI: C3809431
  OMIM ID: 615414
  MedGen ID: 815761

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CIT	TT3BKTU	moderate	Biomarker	[1]
CIT	TT3BKTU	Strong	Autosomal recessive	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PHC1	OT1JMX8U	Limited	Autosomal recessive	[2]
CIT	OTOZDKPG	Strong	Autosomal recessive	[1]

References

• [1] Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly. Am J Hum Genet. 2016 Aug 4;99(2):501-10. doi: 10.1016/j.ajhg.2016.07.004. Epub 2016 Jul 21.
• [2] Mutation in PHC1 implicates chromatin remodeling in primary microcephaly pathogenesis. Hum Mol Genet. 2013 Jun 1;22(11):2200-13. doi: 10.1093/hmg/ddt072. Epub 2013 Feb 14.