Retinoblastoma
ORPHA:790DiseaseAutosomal dominant, Not applicableAntenatal, Childhood, Infancy
Фенотипы (HPO)27
Облигатный (100%)1
HP:0009919Retinoblastoma
Частый (30–79%)5
HP:0000486Strabismus
HP:0000501Glaucoma
HP:0000520Proptosis
HP:0000555Leukocoria
HP:0031615Hypopyon
Периодический (5–29%)17
HP:0000554Uveitis
HP:0001100Heterochromia iridis
HP:0001909Leukemia
HP:0002665Lymphoma
HP:0002669Osteosarcoma
HP:0002859Rhabdomyosarcoma
HP:0002861Melanoma
HP:0007663Reduced visual acuity
HP:0007703Abnormality of retinal pigmentation
HP:0007862Retinal calcification
HP:0007902Vitreous hemorrhage
HP:0011886Hyphema
HP:0012372Abnormal eye morphology
HP:0025244Subretinal pigment epithelium hemorrhage
HP:0025337Red eye
HP:0100243Leiomyosarcoma
HP:0100658Cellulitis
Очень редкий (1–4%)4
HP:0000175Cleft palate
HP:0009733Glioma
HP:0012254Ewing sarcoma
HP:0030408Pineoblastoma
Эпидемиология29
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.05 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 4.6 | Taiwan, Province of China | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.9 | Korea, Republic of | Value and class |
| Lifetime Prevalence | 1-9 / 100 000 | 1.05 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 6 | Worldwide | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.05 | Japan | Value and class |
| Point prevalence | Unknown | — | Europe | Class only |
| Annual incidence | <1 / 1 000 000 | 0.018 | Austria | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.073 | Belgium | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.035 | Bulgaria | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.04 | Croatia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.018 | Estonia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.053 | Finland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.033 | Germany | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.043 | Iceland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.071 | Ireland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.045 | Italy | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.016 | Latvia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.017 | Lithuania | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.094 | Malta | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.071 | Norway | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.038 | Poland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.047 | Portugal | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.042 | Slovakia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.038 | Slovenia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.048 | Spain | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.039 | Switzerland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.071 | United Kingdom | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.107 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)