폰 히펠-린다우 증후군

유전자 (2건)

유병률 (4건)

• •1-9 / 100 000 · United Kingdom · Prevalence at birth
• •1-9 / 100 000 · United Kingdom · Point prevalence
• •1-9 / 100 000 · Denmark · Point prevalence
• •1-9 / 100 000 · Denmark · Prevalence at birth

국제 의학 용어 — 표현형 (HPO · 영문 원본)(41건 중 상위 30건 표시)

• Abnormality of the eye매우 빈번 (99-80%)
• Hypertension빈번 (79-30%)
• Renal cell carcinoma빈번 (79-30%)
• Adrenal pheochromocytoma빈번 (79-30%)
• Cerebellar hemangioblastoma빈번 (79-30%)
• Retinal capillary hemangioma빈번 (79-30%)
• Elevated urinary catecholamines빈번 (79-30%)
• Visual loss가끔 (29-5%)
• Anxiety가끔 (29-5%)
• Hyperhidrosis가끔 (29-5%)
• Pallor가끔 (29-5%)
• Papilledema가끔 (29-5%)
• Hypertensive retinopathy가끔 (29-5%)
• Stroke가끔 (29-5%)
• Cardiomyopathy가끔 (29-5%)
• Pancreatic cysts가끔 (29-5%)
• Palpitations가끔 (29-5%)
• Abdominal pain가끔 (29-5%)
• Headache가끔 (29-5%)
• Vertigo가끔 (29-5%)
• Elevated circulating catecholamine level가끔 (29-5%)
• Back pain가끔 (29-5%)
• Upper limb muscle weakness가끔 (29-5%)
• Abnormal left ventricular function가끔 (29-5%)
• Multiple renal cysts가끔 (29-5%)
• Pancreatic islet cell adenoma가끔 (29-5%)
• Distal lower limb muscle weakness가끔 (29-5%)
• Papillary cystadenoma of the epididymis가끔 (29-5%)
• Limb pain가끔 (29-5%)
• Arrhythmia가끔 (29-5%)