Page last updated: 2024-09-27

Agenesis of Corpus Callosum with Chorioretinal Abnormality

A rare genetic disorder characterized by partial or complete absence of the CORPUS CALLOSUM, resulting in infantile spasms, MENTAL RETARDATION, and lesions of the RETINA or OPTIC NERVE.

Synonyms(7)

Synonym
Aicardi Syndrome
Chorioretinal Anomalies with Acc
Agenesis of Corpus Callosum with Chorioretinal Abnormality
Corpus Callosum, Agenesis Of, With Chorioretinal Abnormality
Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities
Aicardi's Syndrome
Callosal Agenesis and Ocular Abnormalities

Research Excerpts

Overview

ExcerptReference
"Aicardi syndrome is a rare neurodevelopmental disorder characterized by corpus callosum agenesis, chorioretinal lacunae and early-onset infantile spasms."( Ben Mansour, L; Chabchoub, I; Daoued, E; Hachicha, M; Kamoun, F; Kamoun, T; Kmiha, S; Mnif, Z, 2011)
"PurposeAicardi syndrome is a rare disorder, affecting ~1 in 100 000 live births."( McKee, S; McLoone, E; O'Keefe, M; Shirley, K, 2016)
"Aicardi syndrome is a neurodevelopmental disorder characterized by a triad of partial or complete agenesis of the corpus callosum, infantile spasms, and pathognomonic chorioretinal lacunae."( Ashit Parikh, A; Baldwin, G; Bodamer, OA; Gonzalez, E; Hoyek, S; Patel, NA; Yavuz Saricay, L, 2023)

Context

ExcerptReference
"Children with Aicardi syndrome have earlier seizure onset, worse developmental outcome, and larger areas of brain abnormalities on neuroimaging compared with nonsyndromic agenesis of the corpus callosum patients."( Agarwal, R; Chugani, HT; Govil-Dalela, T; Kumar, A, 2017)

Research

Studies (14)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's0 (0.00)18.1394
2010's11 (78.57)28.8240
2020's3 (21.43)9.53
DrugIndicatedRelationship StrengthStudiesTrials
gamma-aminobutyric acid0low10
2-propanol0low20
vigabatrin0low20
vecuronium bromide0low10
vitamin b 60low10
cannabidiol0low10
phenylephrine hydrochloride0low10
eye0low20

Protein Targets (196)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
hypoxia-inducible factor 1 alpha subunit1001
RAR-related orphan receptor gamma2002
GLI family zinc finger 32002
AR protein2002
aldehyde dehydrogenase 1 family, member A11001
retinoic acid nuclear receptor alpha variant 11001
retinoid X nuclear receptor alpha1001
estrogen nuclear receptor alpha3003
peroxisome proliferator-activated receptor delta1001
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
activating transcription factor 61001
v-jun sarcoma virus 17 oncogene homolog (avian)1001
Histone H2A.x1001
thyroid hormone receptor beta isoform a2002
heat shock protein beta-11001
nuclear factor erythroid 2-related factor 2 isoform 13003
lamin isoform A-delta103003
Voltage-dependent calcium channel gamma-2 subunit1001
Glutamate receptor 21001
PPM1D protein1001
Acetylcholinesterase0101
L-lactate dehydrogenase A chain0101
Interferon beta1001
Cytochrome P450 1A10101
Cytochrome P450 1A20101
Cytochrome P450 2C11 0101
Cytochrome P450 3A40101
5-hydroxytryptamine receptor 1A0011
Cytochrome P450 2D60101
Cytochrome P450 2A60101
Cytochrome P450 2C9 0101
Steroid 17-alpha-hydroxylase/17,20 lyase 0101
Fatty acid-binding protein, liver0101
5-hydroxytryptamine receptor 2A0011
Alpha-2B adrenergic receptor0101
Alpha-2C adrenergic receptor0101
Cannabinoid receptor 10101
Cytochrome P450 2B60101
Cytochrome P450 3A50101
Cannabinoid receptor 10102
D(1A) dopamine receptor0101
Cytochrome P450 3A70101
5-hydroxytryptamine receptor 2C0101
Caspase-10011
Cytochrome P450 2C190101
Cannabinoid receptor 2 0113
Mu-type opioid receptor0101
Peroxisome proliferator-activated receptor gamma0011
Delta-type opioid receptor0101
Kappa-type opioid receptor0101
Spike glycoprotein2002
Cholinesterase0101
N-acylethanolamine-hydrolyzing acid amidase0101
Cytochrome P450 1B10101
Heat sensitive channel TRPV30112
Sigma intracellular receptor 20101
Transient receptor potential cation channel subfamily A member 10112
Transient receptor potential cation channel subfamily V member 10112
Transient receptor potential cation channel subfamily M member 80101
Transient receptor potential cation channel subfamily V member 40112
Transient receptor potential cation channel subfamily V member 20112
G-protein coupled receptor 550011
Diacylglycerol lipase-alpha0101
Histamine H3 receptor0101
Chain A, Ferritin light chain1001
Gamma-aminobutyric acid 0011
Gamma-aminobutyric acid receptor subunit rho-30011
thioredoxin reductase3003
ATAD5 protein, partial1001
Hsf1 protein0011
thyroid stimulating hormone receptor1001
regulator of G-protein signaling 41001
bromodomain adjacent to zinc finger domain 2B1001
arylsulfatase A2002
euchromatic histone-lysine N-methyltransferase 23003
Bloom syndrome protein isoform 13003
D(1A) dopamine receptor2002
transcriptional regulator ERG isoform 31001
histone-lysine N-methyltransferase 2A isoform 2 precursor1001
geminin2002
peripheral myelin protein 222002
histone acetyltransferase KAT2A isoform 11001
neuropeptide S receptor isoform A1001
Gamma-aminobutyric acid receptor subunit pi0101
Gamma-aminobutyric acid receptor subunit pi0202
Gamma-aminobutyric acid receptor subunit delta0101
Histone deacetylase 30101
Gamma-aminobutyric acid type B receptor subunit 20112
Gamma-aminobutyric acid type B receptor subunit 20101
Gamma-aminobutyric acid receptor subunit alpha-10112
Gamma-aminobutyric acid receptor subunit beta-10202
Gamma-aminobutyric acid receptor subunit alpha-60011
Gamma-aminobutyric acid receptor subunit beta-10112
Gamma-aminobutyric acid receptor subunit delta0202
Gamma-aminobutyric acid receptor subunit gamma-20112
Gamma-aminobutyric acid receptor subunit gamma-20213
Gamma-aminobutyric acid receptor subunit alpha-50202
Gamma-aminobutyric acid receptor subunit alpha-30202
Gamma-aminobutyric acid receptor subunit gamma-20011
Gamma-aminobutyric acid receptor subunit delta0011
Gamma-aminobutyric acid receptor subunit gamma-10202
Gamma-aminobutyric acid receptor subunit alpha-20202
Sodium- and chloride-dependent GABA transporter 10101
Gamma-aminobutyric acid receptor subunit rho-10022
Gamma-aminobutyric acid receptor subunit alpha-20011
Gamma-aminobutyric acid receptor subunit alpha-30011
Gamma-aminobutyric acid receptor subunit gamma-30011
Gamma-aminobutyric acid receptor subunit alpha-40202
Gamma-aminobutyric acid receptor subunit beta-30112
Gamma-aminobutyric acid receptor subunit gamma-30202
Gamma-aminobutyric acid receptor subunit rho-20011
Gamma-aminobutyric acid receptor subunit alpha-60202
Sodium- and chloride-dependent GABA transporter 10101
Sodium- and chloride-dependent taurine transporter0101
Gamma-aminobutyric acid receptor subunit alpha-50112
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Sodium- and chloride-dependent GABA transporter 10101
Sodium- and chloride-dependent GABA transporter 20101
Sodium- and chloride-dependent GABA transporter 30101
Gamma-aminobutyric acid receptor subunit alpha-30112
Gamma-aminobutyric acid receptor subunit alpha-20112
Gamma-aminobutyric acid receptor subunit beta-20112
Sodium- and chloride-dependent betaine transporter0101
Sodium- and chloride-dependent betaine transporter0101
Sodium- and chloride-dependent GABA transporter 30101
Gamma-aminobutyric acid receptor subunit alpha-40112
Gamma-aminobutyric acid receptor subunit beta-10011
Histone deacetylase 40101
Gamma-aminobutyric acid receptor subunit alpha-10011
Gamma-aminobutyric acid receptor subunit alpha-10213
Gamma-aminobutyric acid receptor subunit beta-30202
Gamma-aminobutyric acid receptor subunit beta-30011
Gamma-aminobutyric acid receptor subunit beta-20213
Gamma-aminobutyric acid receptor subunit epsilon0101
4-aminobutyrate aminotransferase, mitochondrial0102
4-aminobutyrate aminotransferase, mitochondrial0102
TAR DNA-binding protein 431001
Histone deacetylase 10101
Gamma-aminobutyric acid receptor subunit alpha-60112
Sterol O-acyltransferase 10011
Proton-coupled amino acid transporter 10101
Gamma-aminobutyric acid receptor subunit alpha-50011
Gamma-aminobutyric acid receptor subunit gamma-10101
Gamma-aminobutyric acid receptor subunit pi0011
Histone deacetylase 70101
GABA theta subunit0202
Histone deacetylase 20101
Polyamine deacetylase HDAC100101
Histone deacetylase 11 0101
Gamma-aminobutyric acid receptor subunit gamma-30101
Histone deacetylase 80101
Gamma-aminobutyric acid receptor subunit alpha-40011
Gamma-aminobutyric acid receptor subunit epsilon0202
Platelet glycoprotein VI0011
Gamma-aminobutyric acid receptor subunit theta0011
Sodium- and chloride-dependent GABA transporter 20101
Gamma-aminobutyric acid receptor subunit gamma-10011
Histone deacetylase 60101
Gamma-aminobutyric acid type B receptor subunit 10112
Histone deacetylase 90101
Gamma-aminobutyric acid receptor subunit theta0101
Histone deacetylase 50101
Gamma-aminobutyric acid type B receptor subunit 10101
Chain A, 2-oxoglutarate Oxygenase1001
glp-1 receptor, partial1001
GALC protein1001
TDP1 protein1001
hypoxia-inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)1001
glucocorticoid receptor [Homo sapiens]1001
estrogen-related nuclear receptor alpha1001
peroxisome proliferator activated receptor gamma1001
IDH11001
thyroid stimulating hormone receptor1001
beta-2 adrenergic receptor1001
lysosomal alpha-glucosidase preproprotein1001
mu-type opioid receptor isoform MOR-10011
chromobox protein homolog 12002
Vpr1001
5-hydroxytryptamine receptor 2A0011
Cellular tumor antigen p531001
Neuronal acetylcholine receptor subunit alpha-41001
Neuronal acetylcholine receptor subunit beta-21001
acetylcholinesterase1001
cytochrome P450 2D61001
Solute carrier family 22 member 20101
ATP-binding cassette sub-family C member 30202
Multidrug resistance-associated protein 40202
Bile salt export pump0202
Multidrug and toxin extrusion protein 20101
Canalicular multispecific organic anion transporter 10202
Multidrug and toxin extrusion protein 10101
endonuclease IV1001
USP1 protein, partial1001
4-aminobutyrate aminotransferase, mitochondrial0101
ATP-dependent phosphofructokinase1001
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]