Nephroblastoma
ORPHA:654DiseaseAutosomal dominant, Not applicableChildhood
Ассоциированные гены12
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| BRCA2 | BRCA2 DNA repair associated | Candidate gene tested in | gene with protein product | 600185 |
| GPC3 | glypican 3 | Biomarker tested in | gene with protein product | 300037 |
| CTR9 | CTR9 component of Paf1/RNA polymerase II complex | Disease-causing germline mutation(s) in | gene with protein product | 609366 |
| TRIM28 | tripartite motif containing 28 | Disease-causing germline mutation(s) in | gene with protein product | 601742 |
| TRIM28 | tripartite motif containing 28 | Disease-causing somatic mutation(s) in | gene with protein product | 601742 |
| REST | RE1 silencing transcription factor | Major susceptibility factor in | gene with protein product | 600571 |
| TRIP13 | thyroid hormone receptor interactor 13 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 604507 |
| POU6F2 | POU class 6 homeobox 2 | Major susceptibility factor in | gene with protein product | 609062 |
| WT1 | WT1 transcription factor | Disease-causing somatic mutation(s) in | gene with protein product | 607102 |
| WT1 | WT1 transcription factor | Major susceptibility factor in | gene with protein product | 607102 |
| H19 | H19 imprinted maternally expressed transcript | Role in the phenotype of | Non-coding RNA | 103280 |
| DIS3L2 | DIS3 like 3'-5' exoribonuclease 2 | Major susceptibility factor in | gene with protein product | 614184 |
Фенотипы (HPO)27
Очень частый (80–99%)3
HP:0002664Neoplasm
HP:0002667Nephroblastoma
HP:0031500Abdominal mass
Частый (30–79%)3
HP:0002027Abdominal pain
HP:0005580Duplication of renal pelvis
HP:0012587Macroscopic hematuria
Периодический (5–29%)20
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000086Ectopic kidney
HP:0000526Aniridia
HP:0000822Hypertension
HP:0001528Hemihypertrophy
HP:0001824Weight loss
HP:0001901Polycythemia
HP:0001903Anemia
HP:0001945Fever
HP:0002716Lymphadenopathy
HP:0002896Neoplasm of the liver
HP:0002907Microscopic hematuria
HP:0003072Hypercalcemia
HP:0008330Reduced von Willebrand factor activity
HP:0012871Varicocele
HP:0031105Abnormal uterus morphology
HP:0033834Malaise
HP:0100526Neoplasm of the lung
Очень редкий (1–4%)1
HP:0002094Dyspnea
Эпидемиология27
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.14 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Lifetime Prevalence | 1-9 / 100 000 | 3.65 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.144 | United Kingdom | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 10 | Europe | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.072 | Bulgaria | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.006 | Czech Republic | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.089 | Germany | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.043 | Iceland | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.065 | Latvia | Value and class |
| Annual incidence | <1 / 1 000 000 | 0.066 | Portugal | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.121 | Austria | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.195 | Belgium | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.155 | Croatia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.139 | Estonia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.158 | Finland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.17 | Ireland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.111 | Italy | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.12 | Lithuania | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.157 | Malta | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.131 | Norway | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.111 | Poland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.162 | Slovakia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.144 | Slovenia | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.113 | Spain | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.135 | Switzerland | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.176 | Netherlands | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)