Aicardi Syndrome (AIC)

Alias:
Agenesis of Corpus Callosum with Chorioretinal Abnormality
Aicardi's Syndrome
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
Corpus Callosum, Agenesis of, with Chorioretinal Abnormality
Callosal Agenesis and Ocular Abnormalities
Chorioretinal Anomalies with Acc
Aic
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Aicardi Syndrome, also known as agenesis of corpus callosum with chorioretinal abnormality, is related to polymicrogyria and west syndrome, and has symptoms including seizures An important gene associated with Aicardi Syndrome is ARX (Aristaless Related Homeobox), and among its related pathways/superpathways are Rett syndrome causing genes and Dravet syndrome. Affiliated tissues include brain and eye, and related phenotypes are abnormality of retinal pigmentation and intellectual disability, severe
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
XL
XLR
Newborn
1-9/100000
25
205
57

Medical Symptom

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

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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