Details of Disease

General Information of Disease (ID: DIS4HVZ0)

Disease Name Microcephaly 4, primary, autosomal recessive
Synonyms MCPH4; microcephaly 4, primary, autosomal recessive
Disease Hierarchy
DIS29IE3: Autosomal recessive primary microcephaly
DIS4HVZ0: Microcephaly 4, primary, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0011437
UMLS CUI
C1858516
OMIM ID
604321
MedGen ID
347655

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
KNL1 OT4Q3LHV Strong Autosomal recessive [1]
CEP152 OTOKZR9B Definitive Autosomal recessive [2]
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References

1 Kinetochore KMN network gene CASC5 mutated in primary microcephaly. Hum Mol Genet. 2012 Dec 15;21(24):5306-17. doi: 10.1093/hmg/dds386. Epub 2012 Sep 13.
2 CEP152 is a genome maintenance protein disrupted in Seckel syndrome. Nat Genet. 2011 Jan;43(1):23-6. doi: 10.1038/ng.725. Epub 2010 Dec 5.