Details of Disease

General Information of Disease (ID: DISM0PCT)

Disease Name Microcephaly 5, primary, autosomal recessive
Synonyms MCPH5; ASPM autosomal recessive primary microcephaly; autosomal recessive primary microcephaly caused by mutation in ASPM; microcephaly 5, primary, autosomal recessive
Definition Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene.
Disease Hierarchy
DIS29IE3: Autosomal recessive primary microcephaly
DISM0PCT: Microcephaly 5, primary, autosomal recessive
Disease Identifiers
MONDO ID
MONDO_0012106
MESH ID
C563871
UMLS CUI
C1837501
OMIM ID
608716
MedGen ID
373344

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
ASPM OTKXQMNA Definitive Autosomal recessive [1]
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References

1 ASPM is a major determinant of cerebral cortical size. Nat Genet. 2002 Oct;32(2):316-20. doi: 10.1038/ng995. Epub 2002 Sep 23.