Isolated aniridia
ORPHA:250923Morphological anomalyAutosomal dominant, Not applicableNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PAX6 | paired box 6 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 607108 |
| TRIM44 | tripartite motif containing 44 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 612298 |
| FOXC1 | forkhead box C1 | Disease-causing germline mutation(s) in | gene with protein product | 601090 |
Фенотипы (HPO)27
Очень частый (80–99%)7
HP:0000526Aniridia
HP:0000572Visual loss
HP:0000639Nystagmus
HP:0007663Reduced visual acuity
HP:0007676Hypoplasia of the iris
HP:0007750Hypoplasia of the fovea
HP:0008059Aplasia/Hypoplasia of the macula
Частый (30–79%)14
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000518Cataract
HP:0000642Red-green dyschromatopsia
HP:0000659Peters anomaly
HP:0001083Ectopia lentis
HP:0001097Keratoconjunctivitis sicca
HP:0007894Hypopigmentation of the fundus
HP:0007957Corneal opacity
HP:0011496Corneal neovascularization
HP:0030466Abnormal full-field electroretinogram
HP:0030468Abnormal multifocal electroretinogram
HP:0030622Abnormal foveal pit on macular OCT
HP:0032107Limbal stem cell deficiency
Периодический (5–29%)4
HP:0000508Ptosis
HP:0000568Microphthalmia
HP:0000609Optic nerve hypoplasia
HP:0000613Photophobia
Очень редкий (1–4%)2
HP:0030961Microspherophakia
HP:0100719Lens coloboma
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.31 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.38 | Norway | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.38 | Sweden | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)