Details of Disease

General Information of Disease (ID: DIS9Q9XU)

Disease Name Complex cortical dysplasia with other brain malformations 2
Synonyms
cortical dysplasia, complex, with other brain malformations 2; KIF5C complex cortical dysplasia with other brain malformations; cortical dysplasia, Complex, with Other brain malformations type 2; CDCBM2; complex cortical dysplasia with other brain malformations caused by mutation in KIF5C; complex cortical dysplasia with other brain malformations type 2
Definition Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene.
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DIS9Q9XU: Complex cortical dysplasia with other brain malformations 2
Disease Identifiers
MONDO ID
MONDO_0014116
UMLS CUI
C3809013
OMIM ID
615282
MedGen ID
815343

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
KIF5C OT35570Y Strong Autosomal dominant [1]
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References

1 Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Nat Genet. 2013 Jun;45(6):639-47. doi: 10.1038/ng.2613. Epub 2013 Apr 21.