Medulloblastoma
ORPHA:616DiseaseNot applicableAll ages
Фенотипы (HPO)34
Облигатный (100%)1
HP:0002885Medulloblastoma
Частый (30–79%)14
HP:0000270Delayed cranial suture closure
HP:0001251Ataxia
HP:0001254Lethargy
HP:0001291Abnormal cranial nerve morphology
HP:0001310Dysmetria
HP:0002017Nausea and vomiting
HP:0002073Progressive cerebellar ataxia
HP:0002080Intention tremor
HP:0002315Headache
HP:0002516Increased intracranial pressure
HP:0004481Progressive macrocephaly
HP:0007129Cerebellar medulloblastoma
HP:0009878Cerebellar ataxia associated with quadrupedal gait
HP:0012658Abnormal brain FDG positron emission tomography
Периодический (5–29%)16
HP:0000238Hydrocephalus
HP:0000529Progressive visual loss
HP:0000651Diplopia
HP:0000737Irritability
HP:0001263Global developmental delay
HP:0002321Vertigo
HP:0002350Cerebellar cyst
HP:0003418Back pain
HP:0005227Adenomatous colonic polyposis
HP:0005561Abnormality of bone marrow cell morphology
HP:0007352Cerebellar calcifications
HP:0007824Total ophthalmoplegia
HP:0008619Bilateral sensorineural hearing impairment
HP:0010302Spinal cord tumor
HP:0011695Cerebellar hemorrhage
HP:0100543Cognitive impairment
Очень редкий (1–4%)3
HP:0002910Elevated circulating hepatic transaminase concentration
HP:0003006Neuroblastoma
HP:0100526Neoplasm of the lung
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.11 | Europe | Value and class |
| Point prevalence | 1-9 / 100 000 | 1 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.74 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)