Details of Disease

General Information of Disease (ID: DIS4Y3A1)

Disease Name Cortical dysplasia, complex, with other brain malformations 9
Synonyms CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DIS4Y3A1: Cortical dysplasia, complex, with other brain malformations 9
Disease Identifiers
MONDO ID
MONDO_0032578
UMLS CUI
C4748540
OMIM ID
618174
MedGen ID
1648399

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
CTNNA2 OTJ8G92T Strong Autosomal recessive [1]
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References

1 Biallelic loss of human CTNNA2, encoding N-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration. Nat Genet. 2018 Aug;50(8):1093-1101. doi: 10.1038/s41588-018-0166-0. Epub 2018 Jul 16.