Craniopharyngioma
ORPHA:54595DiseaseNot applicableAll ages
Ассоциированные гены2
Фенотипы (HPO)46
Облигатный (100%)1
HP:0012286Abnormal hypothalamus morphology
Очень частый (80–99%)5
HP:0002514Cerebral calcification
HP:0010576Intracranial cystic lesion
HP:0011750Neoplasm of the anterior pituitary
HP:0012505Enlarged pituitary gland
HP:0040075Hypopituitarism
Частый (30–79%)16
HP:0000044Hypogonadotropic hypogonadism
HP:0000135Hypogonadism
HP:0000863Central diabetes insipidus
HP:0000870Increased circulating prolactin concentration
HP:0001085Papilledema
HP:0001262Excessive daytime somnolence
HP:0001513Obesity
HP:0002017Nausea and vomiting
HP:0002315Headache
HP:0002360Sleep abnormality
HP:0007924Slow decrease in visual acuity
HP:0007987Progressive visual field defects
HP:0008245Pituitary hypothyroidism
HP:0011734Central adrenal insufficiency
HP:0030521Bitemporal hemianopia
HP:0030588Abnormal visual field test
Периодический (5–29%)12
HP:0000238Hydrocephalus
HP:0000365Hearing impairment
HP:0000648Optic atrophy
HP:0000823Delayed puberty
HP:0001510Growth delay
HP:0002516Increased intracranial pressure
HP:0002591Polyphagia
HP:0002637Cerebral ischemia
HP:0002659Increased susceptibility to fractures
HP:0003508Proportionate short stature
HP:0005978Type II diabetes mellitus
HP:0010535Sleep apnea
Очень редкий (1–4%)12
HP:0000708Atypical behavior
HP:0001117Sudden loss of visual acuity
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001259Coma
HP:0001263Global developmental delay
HP:0001658Myocardial infarction
HP:0002321Vertigo
HP:0002719Recurrent infections
HP:0008897Postnatal growth retardation
HP:0010939Abnormal nasal bone morphology
HP:0430000Abnormality of the frontal bone
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1 | Worldwide | Value and class |
| Point prevalence | 1-9 / 100 000 | 2 | Europe | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.19 | United States | Value and class |
| Annual incidence | 1-9 / 1 000 000 | 0.17 | Sweden | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)