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MIRAGE
lissencephaly 3

Summary
Synonym
  • LIS3
Definition
A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12.
Super Class
autosomal dominant disease lissencephaly
Disease Ontology
DOID:0112232
Mondo Disease Ontology
MeSH
ORDO
OMIM
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
7277 TUBA4A tubulin alpha 4a
7846 TUBA1A tubulin alpha 1a
10376 TUBA1B tubulin alpha 1b
84790 TUBA1C tubulin alpha 1c
Displaying all 7 entries
Gene ID Gene Symbol Description Source
22142 Tuba1a tubulin, alpha 1A
22143 Tuba1b tubulin, alpha 1B
22144 Tuba3a tubulin, alpha 3A
22145 Tuba4a tubulin, alpha 4A
22146 Tuba1c tubulin, alpha 1C
22147 Tuba3b tubulin, alpha 3B
53857 Tuba8 tubulin, alpha 8
The Human Phenotype Ontology
Displaying entries 21 - 30 of 35 in total
HPO ID HPO Term
HP:0006989 Dysplastic corpus callosum
HP:0007359 Focal-onset seizure
HP:0012469 Infantile spasms
HP:0012650 Perisylvian polymicrogyria
HP:0000006 Autosomal dominant inheritance
HP:0001250 Seizure
HP:0001251 Ataxia
HP:0001270 Motor delay
HP:0001290 Generalized hypotonia
HP:0002282 Gray matter heterotopia
Displaying 1 entry
Gene ID Gene Symbol Description
7846 TUBA1A tubulin alpha 1a
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: February 17, 2025