Details of Disease | DrugMAP

General Information of Disease (ID: DIS4A8DE)

Disease Name	Microcephaly 8, primary, autosomal recessive
Synonyms	MCPH8; autosomal recessive primary microcephaly caused by mutation in CEP135; CEP135 autosomal recessive primary microcephaly; microcephaly 8, primary, autosomal recessive
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene.
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DIS4A8DE: Microcephaly 8, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0013849 UMLS CUI C3553414 OMIM ID 614673 MedGen ID 766328

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
CEP135	OT1O9XYJ	Strong	Autosomal recessive	[1]
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References

1	A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function. Am J Hum Genet. 2012 May 4;90(5):871-8. doi: 10.1016/j.ajhg.2012.03.016. Epub 2012 Apr 19.