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anterior segment dysgenesis 3

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description An iridogoniodysgenesis that results from alterations in the forkhead transcription factor gene (FOXC1)
Uniprot Description A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD3 inheritance is autosomal dominant.
Mondo Term and Equivalent IDs
MONDO:0024456:  anterior segment dysgenesis 3
DOID:0080608: 
GARD:0002482: 
GARD:0002978: 
MESH:C535535: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found