Von Hippel-Lindau disease
ORPHA:892DiseaseAutosomal dominantAdolescent, Adult, Childhood
Ассоциированные гены2
Фенотипы (HPO)41
Очень частый (80–99%)1
HP:0000478Abnormality of the eye
Частый (30–79%)6
HP:0000822Hypertension
HP:0005584Renal cell carcinoma
HP:0006748Adrenal pheochromocytoma
HP:0006880Cerebellar hemangioblastoma
HP:0009711Retinal capillary hemangioma
HP:0011976Elevated urinary catecholamines
Периодический (5–29%)26
HP:0000572Visual loss
HP:0000739Anxiety
HP:0000975Hyperhidrosis
HP:0000980Pallor
HP:0001085Papilledema
HP:0001095Hypertensive retinopathy
HP:0001297Stroke
HP:0001638Cardiomyopathy
HP:0001737Pancreatic cysts
HP:0001962Palpitations
HP:0002027Abdominal pain
HP:0002315Headache
HP:0002321Vertigo
HP:0003334Elevated circulating catecholamine level
HP:0003418Back pain
HP:0003484Upper limb muscle weakness
HP:0005162Abnormal left ventricular function
HP:0005562Multiple renal cysts
HP:0008261Pancreatic islet cell adenoma
HP:0009053Distal lower limb muscle weakness
HP:0009715Papillary cystadenoma of the epididymis
HP:0009763Limb pain
HP:0011675Arrhythmia
HP:0030393Endolymphatic sac tumor
HP:0030405Pancreatic endocrine tumor
HP:0040049Macular edema
Очень редкий (1–4%)8
HP:0000541Retinal detachment
HP:0001658Myocardial infarction
HP:0001901Polycythemia
HP:0002516Increased intracranial pressure
HP:0002668Paraganglioma
HP:0002894Neoplasm of the pancreas
HP:0012819Myocarditis
HP:0030424Epididymal cyst
Эпидемиология5
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 2.3 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | 1.1 | United Kingdom | Value and class |
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only |
| Point prevalence | 1-9 / 100 000 | 2.13 | Denmark | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 3.66 | Denmark | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)