Details of Disease

General Information of Disease (ID: DIS1GSO6)

Disease Name Lissencephaly due to TUBA1A mutation
Synonyms LIS3; lissencephaly 3
Definition
Lissencephaly (LIS) due to TUBA1A mutation is a congenital cortical development anomaly due to abnormal neuronal migration involving neocortical and hippocampal lamination, corpus callosum, cerebellum and brainstem. A large clinical spectrum can be observed, from children with severe epilepsy and intellectual and motor deficit to cases with severe cerebral dysgenesis in the antenatal period leading to pregnancy termination due to the severity of the prognosis.
Disease Hierarchy
DIS9X4I6: Lissencephaly type 3
DIS1GSO6: Lissencephaly due to TUBA1A mutation
Disease Identifiers
MONDO ID
MONDO_0012703
UMLS CUI
C4305153
MedGen ID
930822
Orphanet ID
171680
SNOMED CT ID
718759003

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
TUBA1A OTDVFXEQ Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Novel variants in TUBA1A cause congenital fibrosis of the extraocular muscles with or without malformations of cortical brain development. Eur J Hum Genet. 2021 May;29(5):816-826. doi: 10.1038/s41431-020-00804-7. Epub 2021 Mar 1.