Lissencephaly 3 (LIS3)

Alias:
Lissencephaly Due to Tuba1a Mutation
Lissencephaly Type 3
Lis3
Lissencephaly, Type 3
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Lissencephaly 3, also known as lissencephaly due to tuba1a mutation, is related to lissencephaly 2 and lissencephaly type 3-familial fetal akinesia sequence syndrome, and has symptoms including ataxia and seizures. An important gene associated with Lissencephaly 3 is TUBA1A (Tubulin Alpha 1a), and among its related pathways/superpathways are Neurogenesis regulation in the olfactory epithelium and Reelin signaling pathway. Affiliated tissues include brain and cerebellum, and related phenotypes are global developmental delay and ventriculomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Unknown
<1/1000000
10
77
19

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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