Axenfeld-Rieger syndrome
ORPHA:782Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PITX2 | paired like homeodomain 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601542 |
| PITX2 | paired like homeodomain 2 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 601542 |
| FOXC1 | forkhead box C1 | Disease-causing germline mutation(s) in | gene with protein product | 601090 |
Фенотипы (HPO)21
Очень частый (80–99%)3
HP:0000593Abnormal anterior chamber morphology
HP:0000627Posterior embryotoxon
HP:0008053Aplasia/Hypoplasia of the iris
Частый (30–79%)5
HP:0000232Everted lower lip vermilion
HP:0000365Hearing impairment
HP:0000501Glaucoma
HP:0011800Midface retrusion
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)13
HP:0000047Hypospadias
HP:0000316Hypertelorism
HP:0000327Hypoplasia of the maxilla
HP:0000431Wide nasal bridge
HP:0000506Telecanthus
HP:0000668Hypodontia
HP:0000691Microdontia
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001510Growth delay
HP:0001582Redundant skin
HP:0002025Anal stenosis
HP:0005280Depressed nasal bridge
HP:0011220Prominent forehead
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)