Fuchs endothelial corneal dystrophy
ORPHA:98974DiseaseAutosomal dominant, Multigenic/multifactorial, Not applicableAdult
Ассоциированные гены5
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| SLC4A11 | solute carrier family 4 member 11 | Disease-causing germline mutation(s) in | gene with protein product | 610206 |
| ZEB1 | zinc finger E-box binding homeobox 1 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 189909 |
| COL8A2 | collagen type VIII alpha 2 chain | Disease-causing germline mutation(s) in | gene with protein product | 120252 |
| TCF4 | transcription factor 4 | Disease-causing germline mutation(s) in | gene with protein product | 602272 |
| AGBL1 | AGBL carboxypeptidase 1 | Disease-causing germline mutation(s) in | gene with protein product | 615496 |
Фенотипы (HPO)9
Очень частый (80–99%)6
HP:0000969Edema
HP:0007663Reduced visual acuity
HP:0007957Corneal opacity
HP:0011488Abnormal corneal endothelium morphology
HP:0011490Abnormal Descemet membrane morphology
HP:0011491Reduced number of corneal endothelial cells
Частый (30–79%)3
HP:0000572Visual loss
HP:0000662Nyctalopia
HP:0030857Eye movement-induced pain
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)