Details of Disease | DrugMAP

General Information of Disease (ID: DISY36JJ)

Disease Name	Microcephaly 7, primary, autosomal recessive
Synonyms	MCPH7; microcephaly 7, primary, autosomal recessive; STIL autosomal recessive primary microcephaly; autosomal recessive primary microcephaly caused by mutation in STIL
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene.
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISY36JJ: Microcephaly 7, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0012989 MESH ID C567198 UMLS CUI C2675187 OMIM ID 612703 MedGen ID 436370

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	Genetic Variation	[1]
STIL	OT9799VN	Strong	Autosomal recessive	[2]
------------------------------------------------------------------------------------

References

1	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.
2	The SIL gene is required for mouse embryonic axial development and left-right specification. Nature. 1999 Jun 17;399(6737):691-4. doi: 10.1038/21429.