Details of Disease

General Information of Disease (ID: DISBQXZB)

Disease Name Aicardi syndrome
Synonyms
corpus callosum, agenesis of, with chorioretinal Abnormality; AIC; agenesis of corpus callosum with chorioretinal abnormality; Aicardi syndrome, X-linked dominant; Aicardi syndrome; corpus callosum agenesis of with chorioretinal abnormality
Definition
Aicardi syndrome is a rare neurodevelopmental disorder defined by the triad of agenesis of the corpus callosum (total or partial), typical chorioretinal lacunae and infantile spasms that affect almost exclusively females.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DIS6SVEE: Syndromic disease
DIS372XH: Neurodevelopmental disorder
DISBQXZB: Aicardi syndrome
Disease Identifiers
MONDO ID
MONDO_0010568
MESH ID
D058540
UMLS CUI
C0175713
OMIM ID
304050
MedGen ID
61236
Orphanet ID
50
SNOMED CT ID
80651009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
OCEL1 OTS4R6CX Limited Autosomal dominant [1]
TEAD1 OTK6971C Limited Autosomal dominant [2]
IQSEC2 OTYFRM4Q Strong Genetic Variation [3]
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References

1 A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi Syndrome. Invest Ophthalmol Vis Sci. 2015 Jun;56(6):3896-904. doi: 10.1167/iovs.14-16261.
2 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
3 Chromosomal mapping of the human M6 genes.Genomics. 1996 May 1;33(3):532-6. doi: 10.1006/geno.1996.0231.