ErkrankungAxenfeld-Rieger-Syndrom, Differentialdiagnose

NGS +

Generische Bezeichnung für überlappende genetische Leiden mit Hauptmerkmal von anteriorer Augensegment-Dysgenesie sowie multiplen variablen kongenitalen Auffälligkeiten

• Allelic: Aniridia (PAX6)
• Allelic: Aortic aneurysm, familial thoracic 11, susceptibility to (FOXE3)
• Allelic: Cataract 11, multiple types (PITX3)
• Allelic: Cataract 11, syndromic, AR (PITX3)
• Allelic: Cataract 34, multiple types (FOXE3)
• Allelic: Cataract with late-onset corneal dystrophy (PAX6)
• Allelic: Coloboma of optic nerve (PAX6)
• Allelic: Coloboma, ocular (PAX6)
• Allelic: Foveal hypoplasia 1 (PAX6)
• Allelic: Glaucoma 3A, primary open angle, congenital, juvenile or adult onset (CYP1B1)
• Allelic: Keratitis (PAX6)
• Allelic: Morning glory disc anomaly (PAX6)
• Allelic: Optic nerve hypoplasia (PAX6)
• Allelic: Stroke; Dandy Walker syndrome (FOXC1)
• Anterior segment dysgenesis 1, multiple subtypes (PITX3)
• Anterior segment dysgenesis 2, multiple subtypes (FOXE3)
• Anterior segment dysgenesis 3, multiple subtypes (FOXC1)
• Anterior segment dysgenesis 4; Ring dermoid of cornea (PITX2)
• Anterior segment dysgenesis 5, multiple subtypes (PAX6)
• Anterior segment dysgenesis 6, multiple subtypes (CYP1B1)
• Anterior segment dysgenesis 7, with sclerocornea (PXDN)
• Anterior segment dysgenesis 8 (CPAMD8)
• Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss (FOXC1)
• Axenfeld-Rieger syndrome, type 3, Rieger or Axenfeld anomalies (FOXC1)
• Clubfoot, congenital, with/-out deficiency of long bones and/or mirror-image polydactyly (PITX1)
• Iris hypoplasia + glaucoma; Iridogoniodysgenesis, type 1 (FOXC1)
• Liebenberg syndrome; Polydactyly (PITX1)
• Peters anomaly; Anterior chamber cleavage syndrome (FOXC1)
• Rieger syndrome, type 1 (PITX2)