Neuroblastoma
ORPHA:635DiseaseNot applicableAdolescent, Antenatal, Childhood, Infancy, Neonatal
Ассоциированные гены6
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| MYCN | MYCN proto-oncogene, bHLH transcription factor | Biomarker tested in | gene with protein product | 164840 |
| LMO1 | LIM domain only 1 | Major susceptibility factor in | gene with protein product | 186921 |
| PHOX2B | paired like homeobox 2B | Major susceptibility factor in | gene with protein product | 603851 |
| ALK | ALK receptor tyrosine kinase | Major susceptibility factor in | gene with protein product | 105590 |
| HACE1 | HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 | Major susceptibility factor in | gene with protein product | 610876 |
| LIN28B | lin-28 RNA binding posttranscriptional regulator B | Major susceptibility factor in | gene with protein product | 611044 |
Фенотипы (HPO)34
Очень частый (80–99%)3
HP:0003006Neuroblastoma
HP:0004375Neoplasm of the nervous system
HP:0011976Elevated urinary catecholamines
Частый (30–79%)10
HP:0001824Weight loss
HP:0001873Thrombocytopenia
HP:0001903Anemia
HP:0001945Fever
HP:0002028Chronic diarrhea
HP:0002716Lymphadenopathy
HP:0003270Abdominal distention
HP:0003334Elevated circulating catecholamine level
HP:0012378Fatigue
HP:0031500Abdominal mass
Периодический (5–29%)16
HP:0000520Proptosis
HP:0000737Irritability
HP:0001017Anemic pallor
HP:0001482Subcutaneous nodule
HP:0001892Abnormal bleeding
HP:0001928Abnormality of coagulation
HP:0002098Respiratory distress
HP:0002176Spinal cord compression
HP:0002277Horner syndrome
HP:0002653Bone pain
HP:0002756Pathologic fracture
HP:0003281Increased circulating ferritin concentration
HP:0011977Elevated urinary homovanillic acid
HP:0011978Elevated urinary vanillylmandelic acid
HP:0025435Increased circulating lactate dehydrogenase concentration
HP:0031955Antalgic gait
Очень редкий (1–4%)5
HP:0000822Hypertension
HP:0001251Ataxia
HP:0001336Myoclonus
HP:0010543Opsoclonus
HP:0025553Periorbital ecchymosis with tarsal plate sparing
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-5 / 10 000 | 11 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 5.8 | Europe | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | United States | Value and class |
| Prevalence at birth | 1-5 / 10 000 | 14 | Germany | Value and class |
| Annual incidence | 1-9 / 100 000 | 1.26 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)