Details of Disease

General Information of Disease (ID: DISDKOW7)

• Disease Name: Microcephaly 17, primary, autosomal recessive
• Synonyms: cit autosomal recessive primary microcephaly; microcephaly 17, primary, autosomal recessive; autosomal recessive primary microcephaly caused by mutation in cit; CIT autosomal recessive primary microcephaly; microcephaly 17, primary, autosomal recessive; MCPH17; autosomal recessive primary microcephaly caused by mutation in CIT; MCPH17
• Definition: Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene.
• Disease Hierarchy:
  DIS29IE3: Autosomal recessive primary microcephaly
  DISDKOW7: Microcephaly 17, primary, autosomal recessive
• Disease Identifiers:
  MONDO ID: MONDO_0014908
  UMLS CUI: C4310723
  OMIM ID: 617090
  MedGen ID: 934690

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	Strong	Autosomal recessive	[1]
CIT	TT3BKTU	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

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

References

• [1] Mutations in Citron Kinase Cause Recessive Microlissencephaly with Multinucleated Neurons. Am J Hum Genet. 2016 Aug 4;99(2):511-20. doi: 10.1016/j.ajhg.2016.07.003. Epub 2016 Jul 21.
• [2] Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans.Hum Genet. 2016 Oct;135(10):1191-7. doi: 10.1007/s00439-016-1722-2. Epub 2016 Aug 8.