Congenital glaucoma
ORPHA:98976DiseaseAutosomal dominant, Autosomal recessive, Not applicableInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CYP1B1 | cytochrome P450 family 1 subfamily B member 1 | Disease-causing germline mutation(s) in | gene with protein product | 601771 |
| MYOC | myocilin | Disease-causing germline mutation(s) in | gene with protein product | 601652 |
| LTBP2 | latent transforming growth factor beta binding protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 602091 |
| TEK | TEK receptor tyrosine kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 600221 |
Фенотипы (HPO)19
Очень частый (80–99%)2
HP:0000501Glaucoma
HP:0012040Corneal stromal edema
Частый (30–79%)11
HP:0000485Megalocornea
HP:0000557Buphthalmos
HP:0000613Photophobia
HP:0000643Blepharospasm
HP:0001089Iris atrophy
HP:0007765Deep anterior chamber
HP:0007906Ocular hypertension
HP:0007957Corneal opacity
HP:0009926Epiphora
HP:0011490Abnormal Descemet membrane morphology
HP:0025751Reduced anterior scleral thickness
Периодический (5–29%)6
HP:0000545Myopia
HP:0000572Visual loss
HP:0000646Amblyopia
HP:0007663Reduced visual acuity
HP:0012803Anisometropia
HP:0100693Iridodonesis
Эпидемиология18
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.2 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.9 | Belgium | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.6 | France | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | Malta | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.6 | Italy | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.6 | Netherlands | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.8 | Norway | Value and class |
| Prevalence at birth | 1-9 / 1 000 000 | 0.9 | Portugal | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6.5 | Spain | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.2 | United Kingdom | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3 | Ukraine | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Prevalence at birth | 1-9 / 100 000 | 1.5 | Switzerland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 1.4 | Poland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.1 | Ireland | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.1 | Germany | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | Croatia | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.4 | Austria | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)