Posterior polymorphous corneal dystrophy
ORPHA:98973DiseaseAutosomal dominantChildhood
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| VSX1 | visual system homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 605020 |
| ZEB1 | zinc finger E-box binding homeobox 1 | Disease-causing germline mutation(s) in | gene with protein product | 189909 |
| COL8A2 | collagen type VIII alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120252 |
| OVOL2 | ovo like zinc finger 2 | Disease-causing germline mutation(s) in | gene with protein product | 616441 |
| GRHL2 | grainyhead like transcription factor 2 | Disease-causing germline mutation(s) in | gene with protein product | 608576 |
Фенотипы (HPO)20
Очень частый (80–99%)2
HP:0011490Abnormal Descemet membrane morphology
HP:0011491Reduced number of corneal endothelial cells
Периодический (5–29%)8
HP:0000483Astigmatism
HP:0000646Amblyopia
HP:0007663Reduced visual acuity
HP:0011483Anterior synechiae of the anterior chamber
HP:0012040Corneal stromal edema
HP:0025358Uveal ectropion
HP:0032122Very low visual acuity
HP:0100692Increased corneal curvature
Очень редкий (1–4%)10
HP:0000501Glaucoma
HP:0000565Esotropia
HP:0000613Photophobia
HP:0000622Blurred vision
HP:0000632Lacrimation abnormality
HP:0007906Ocular hypertension
HP:0007957Corneal opacity
HP:0009918Ectopia pupillae
HP:0200026Ocular pain
HP:0200065Chorioretinal degeneration
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1 | Czech Republic | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)