Details of Disease

General Information of Disease (ID: DIS7HHLH)

Disease Name Complex cortical dysplasia with other brain malformations 4
Synonyms
cortical dysplasia, complex, with other brain malformations 4; cortical dysplasia, Complex, with Other brain malformations type 4; complex cortical dysplasia with other brain malformations caused by mutation in TUBG1; CDCBM4; complex cortical dysplasia with other brain malformations type 4; TUBG1 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 TUBG1 gene.
Disease Hierarchy
DISTLV37: Complex cortical dysplasia with other brain malformations
DIS7HHLH: Complex cortical dysplasia with other brain malformations 4
Disease Identifiers
MONDO ID
MONDO_0014171
UMLS CUI
C3809420
OMIM ID
615412
MedGen ID
815750

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
TUBG1 OT7OU5J6 Strong Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Gene knockout analysis of two gamma-tubulin isoforms in mice. Dev Biol. 2005 Jun 15;282(2):361-73. doi: 10.1016/j.ydbio.2005.03.031.