Disease: Irido-corneal dysgenesis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		0.040 Biomarker disease BEFREE Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. 30457409 2018
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		0.040 GeneticVariation disease BEFREE To report a mutation of CYP1B1 in a newborn with a rare phenotype without the classic features of anterior segment dysgenesis or congenital glaucoma. 28644236 2017
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		0.040 GeneticVariation disease BEFREE CYP1B1 mutation related congenital glaucoma can present with an extreme form of anterior segment dysgenesis that includes recalcitrant glaucoma, corneal opacification and aniridia. 24001018 2015
CUI: C0266525
Disease: Irido-corneal dysgenesis
Irido-corneal dysgenesis 		0.040 Biomarker disease BEFREE Our results suggest primary congenital glaucoma and the anterior segment dysgenesis disorders may share a common molecular pathophysiology in the CYP1B1 pathway. 17106362 2006