Clinical Signs and Symptoms
ORPHA:892 Von Hippel-Lindau disease
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of the eye HP:0000478
Very frequent
- Adrenal pheochromocytoma HP:0006748
- Cerebellar hemangioblastoma HP:0006880
- Elevated urinary catecholamines HP:0011976
- Hypertension HP:0000822
- Renal cell carcinoma HP:0005584
- Retinal capillary hemangioma HP:0009711
Frequent
- Abdominal pain HP:0002027
- Abnormal left ventricular function HP:0005162
- Anxiety HP:0000739
- Arrhythmia HP:0011675
- Back pain HP:0003418
- Cardiomyopathy HP:0001638
- Distal lower limb muscle weakness HP:0009053
- Elevated circulating catecholamine level HP:0003334
- Endolymphatic sac tumor HP:0030393
- Headache HP:0002315
- Hyperhidrosis HP:0000975
- Hypertensive retinopathy HP:0001095
- Limb pain HP:0009763
- Macular edema HP:0040049
- Multiple renal cysts HP:0005562
- Pallor HP:0000980
- Palpitations HP:0001962
- Pancreatic cysts HP:0001737
- Pancreatic endocrine tumor HP:0030405
- Pancreatic islet cell adenoma HP:0008261
- Papillary cystadenoma of the epididymis HP:0009715
- Papilledema HP:0001085
- Stroke HP:0001297
- Upper limb muscle weakness HP:0003484
- Vertigo HP:0002321
- Visual loss HP:0000572
Occasional
- Epididymal cyst HP:0030424
- Increased intracranial pressure HP:0002516
- Myocardial infarction HP:0001658
- Myocarditis HP:0012819
- Neoplasm of the pancreas HP:0002894
- Paraganglioma HP:0002668
- Polycythemia HP:0001901
- Retinal detachment HP:0000541
Rare
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.