Persistent hyperplastic primary vitreous
ORPHA:91495DiseaseAutosomal dominant, Autosomal recessiveInfancy, Neonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| FZD4 | frizzled class receptor 4 | Disease-causing germline mutation(s) in | gene with protein product | 604579 |
| NDP | norrin cystine knot growth factor NDP | Disease-causing germline mutation(s) in | gene with protein product | 300658 |
| ATOH7 | atonal bHLH transcription factor 7 | Disease-causing germline mutation(s) in | gene with protein product | 609875 |
Фенотипы (HPO)24
Облигатный (100%)1
HP:0007968Remnants of the hyaloid vascular system
Очень частый (80–99%)5
HP:0000518Cataract
HP:0000555Leukocoria
HP:0000568Microphthalmia
HP:0007663Reduced visual acuity
HP:0007957Corneal opacity
Частый (30–79%)6
HP:0000519Developmental cataract
HP:0007917Tractional retinal detachment
HP:0009917Persistent pupillary membrane
HP:0012109Angle closure glaucoma
HP:0030743Glial remnants anterior to the optic disc
HP:0030744Hyaloid vascular remnant and retrolental mass
Периодический (5–29%)11
HP:0000482Microcornea
HP:0000486Strabismus
HP:0000557Buphthalmos
HP:0000594Shallow anterior chamber
HP:0000618Blindness
HP:0000646Amblyopia
HP:0000667Phthisis bulbi
HP:0001104Macular hypoplasia
HP:0008052Retinal fold
HP:0009926Epiphora
HP:0011885Hemorrhage of the eye
Очень редкий (1–4%)1
HP:0010766Ectopic calcification
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)