Uveal melanoma
ORPHA:39044ЗаболеваниеНе применимоВзрослый
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| CYSLTR2 | cysteinyl leukotriene receptor 2 | Disease-causing somatic mutation(s) in | gene with protein product | 605666 |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing germline mutation(s) in | gene with protein product | 603089 |
| BAP1 | BRCA1 associated deubiquitinase 1 | Disease-causing somatic mutation(s) in | gene with protein product | 603089 |
| GNAQ | G protein subunit alpha q | Disease-causing somatic mutation(s) in | gene with protein product | 600998 |
| GNA11 | G protein subunit alpha 11 | Disease-causing somatic mutation(s) in | gene with protein product | 139313 |
| SF3B1 | splicing factor 3b subunit 1 | Biomarker tested in | gene with protein product | 605590 |
Фенотипы (HPO)17
Очень частый (80–99%)3
HP:0000572Visual loss
HP:0001098Abnormal fundus morphology
HP:0012054Choroidal melanoma
Частый (30–79%)3
HP:0000541Retinal detachment
HP:0011524Iris melanoma
HP:0012055Ciliary body melanoma
Периодический (5–29%)9
HP:0000539Abnormality of refraction
HP:0007902Vitreous hemorrhage
HP:0007906Ocular hypertension
HP:0008494Inferior lens subluxation
HP:0010920Zonular cataract
HP:0011499Mydriasis
HP:0012508Metamorphopsia
HP:0030786Photopsia
HP:0030800Abnormal visual accommodation
Очень редкий (1–4%)2
HP:0100533Inflammatory abnormality of the eye
HP:0200026Ocular pain
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Lifetime Prevalence | 1-9 / 100 000 | 6 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.03 | Africa | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)