Details of Disease

General Information of Disease (ID: DISOP2YQ)

Disease Name Complex cortical dysplasia with other brain malformations 1
Synonyms
cortical dysplasia, complex, with other brain malformations 1; cortical dysplasia, Complex, with Other brain malformations type 1; TUBB3 complex cortical dysplasia with other brain malformations; complex cortical dysplasia with other brain malformations type 1; complex cortical dysplasia with other brain malformations caused by mutation in TUBB3; CDCBM1; cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Definition Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene.
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DISOP2YQ: Complex cortical dysplasia with other brain malformations 1
Disease Identifiers
MONDO ID
MONDO_0013541
UMLS CUI
C3808397
OMIM ID
614039
MedGen ID
814727
Orphanet ID
300570

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
TUBB3 OTI95VOO Strong Autosomal dominant [1]
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References

1 Mutations in the neuronal ?-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet. 2010 Nov 15;19(22):4462-73. doi: 10.1093/hmg/ddq377. Epub 2010 Sep 9.