Details of Disease | DrugMAP

General Information of Disease (ID: DISQZQ69)

Disease Name	Complex cortical dysplasia with other brain malformations 5
Synonyms	cortical dysplasia, complex, with other brain malformations 5; complex cortical dysplasia with other brain malformations type 5; CDCBM5; complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A; cortical dysplasia, Complex, with Other brain malformations type 5; TUBB2A complex cortical dysplasia with other brain malformations
Definition	Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene.
Disease Hierarchy	DISTLV37: Complex cortical dysplasia with other brain malformations DISQZQ69: Complex cortical dysplasia with other brain malformations 5
Disease Identifiers	MONDO ID MONDO_0014337 UMLS CUI C3810407 OMIM ID 615763 MedGen ID 816737

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
TUBB2A	OTTV8N39	Definitive	Autosomal dominant	[1]
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This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
TUBB2A	TTJ2PTI	Strong	Biomarker	[1]
TUBB2A	TTJ2PTI	Definitive	Autosomal dominant	[1]
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References

1	De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet. 2014 Apr 3;94(4):634-41. doi: 10.1016/j.ajhg.2014.03.009.