Details of Disease | DrugMAP

General Information of Disease (ID: DISWFNUJ)

Disease Name	Microcephaly 6, primary, autosomal recessive
Synonyms	MCPH6; microcephaly 6, primary, autosomal recessive; CENPJ autosomal recessive primary microcephaly; autosomal recessive primary microcephaly caused by mutation in CENPJ
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene.
Disease Hierarchy	DISBDL4S: Microcephaly 6 with or without short stature DISWFNUJ: Microcephaly 6, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0012029 MESH ID C564247 UMLS CUI C1842109 OMIM ID 608393 MedGen ID 330770

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CENPJ	OTZCQZN5	Strong	Autosomal recessive	[1]
STIL	OT9799VN	Strong	Genetic Variation	[2]
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References

1	A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nat Genet. 2005 Apr;37(4):353-5. doi: 10.1038/ng1539. Epub 2005 Mar 27.
2	A clinical and molecular genetic study of 112 Iranian families with primary microcephaly. J Med Genet. 2010 Dec;47(12):823-8. doi: 10.1136/jmg.2009.076398. Epub 2010 Oct 26.