DISEASE: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Entry
H02508 Disease
Name
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Description
Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a multisystemic developmental disorder caused by mutations in CDH2. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2F Syndromes with multiple structural anomalies, without predominant body system involvement
H02508 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Pathway-based classification of diseases [BR:br08402]
Cellular processes
nt06549 Cadherin signaling
H02508 Agenesis of corpus callosum, cardiac, ocular, and genital syndrome
Accogli A, Calabretta S, St-Onge J, Boudrahem-Addour N, Dionne-Laporte A, Joset P, Azzarello-Burri S, Rauch A, Krier J, Fieg E, Pallais JC, McConkie-Rosell A, McDonald M, Freedman SF, Riviere JB, Lafond-Lapalme J, Simpson BN, Hopkin RJ, Trimouille A, Van-Gils J, Begtrup A, McWalter K, Delphine H, Keren B, Genevieve D, Argilli E, Sherr EH, Severino M, Rouleau GA, Yam PT, Charron F, Srour M
Title
De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.
