Details of Disease | DrugMAP

General Information of Disease (ID: DISLIM3D)

Disease Name	Microcephaly 14, primary, autosomal recessive
Synonyms	MCPH14; autosomal recessive primary microcephaly caused by mutation in SASS6; microcephaly 14, primary, autosomal recessive; SASS6 autosomal recessive primary microcephaly
Definition	Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene.
Disease Hierarchy	DIS29IE3: Autosomal recessive primary microcephaly DISLIM3D: Microcephaly 14, primary, autosomal recessive
Disease Identifiers	MONDO ID MONDO_0014623 UMLS CUI C4225338 OMIM ID 616402 MedGen ID 906798

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
SASS6	OT1V8H40	Strong	Autosomal recessive	[1]
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References

1	A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family. Hum Mol Genet. 2014 Nov 15;23(22):5940-9. doi: 10.1093/hmg/ddu318. Epub 2014 Jun 20.