Von Hippel-Lindau syndrome
- Synonyms
- VHL syndrome; Von Hippel-Lindau
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Excerpted from the GeneReview:Von Hippel-Lindau syndrome (VHL) is characterized by hemangioblastomas of the brain, spinal cord, and retina; renal cysts and clear cell renal cell carcinoma; pheochromocytoma and paraganglioma; pancreatic cysts and neuroendocrine tumors; endolymphatic sac tumors; and epididymal and broad ligament cystadenomas. Retinal hemangioblastomas may be the initial manifestation of VHL and can cause vision loss. Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas and related syrinx usually present with pain. Sensory and motor loss may develop with cord compression. Renal cell carcinoma occurs in about 70% of individuals with VHL and is the leading cause of mortality. Pheochromocytomas can be asymptomatic but may cause sustained or episodic hypertension. Pancreatic lesions often remain asymptomatic and rarely cause endocrine or exocrine insufficiency. Endolymphatic sac tumors can cause hearing loss of varying severity, which can be a presenting symptom. Cystadenomas of the epididymis are relatively common. They rarely cause problems, unless bilateral, in which case they may result in infertility.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Rachel S van Leeuwaarde
- Saya Ahmad
- Bernadette van Nesselrooij
- view full author information
Available tests
174 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (174 available)
Molecular Genetics Tests
- RNA analysis (5)
- Sequence analysis of the entire coding region (140)
- Detection of homozygosity (3)
- Methylation analysis (1)
- Mutation scanning of select exons (6)
- Mutation scanning of the entire coding region (1)
- Deletion/duplication analysis (114)
- Sequence analysis of select exons (10)
- Targeted variant analysis (13)
Clinical features
Help- Abnormality of blood and blood-forming tissues
- Polycythemia
Polycythemia
- MedGen UID: 18552
- Concept ID: C0032461
- Finding: Disease or Syndrome
Abnormality of blood and blood-forming tissues
- Polycythemia
- Abnormality of the cardiovascular system
- Hypertensive disorder
Hypertensive disorder
- MedGen UID: 6969
- Concept ID: C0020538
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertensive disorder
- Abnormality of the digestive system
- Neoplasm of the pancreas
Neoplasm of the pancreas
- MedGen UID: 18279
- Concept ID: C0030297
- Finding: Neoplastic Process
Abnormality of the digestive system
- Pancreatic cysts
Pancreatic cysts
- MedGen UID: 45293
- Concept ID: C0030283
- Finding: Disease or Syndrome
Abnormality of the digestive system
- Neoplasm of the pancreas
- Abnormality of the genitourinary system
- Epididymal cyst
Epididymal cyst
- MedGen UID: 1778106
- Concept ID: C5442141
- Finding: Anatomical Abnormality
Abnormality of the genitourinary system
- Multiple renal cysts
Multiple renal cysts
- MedGen UID: 140917
- Concept ID: C0431718
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Epididymal cyst
- Abnormality of the nervous system
- Cerebellar hemangioblastoma
Cerebellar hemangioblastoma
- MedGen UID: 234108
- Concept ID: C1332900
- Finding: Neoplastic Process
Abnormality of the nervous system
- Retinal capillary hemangioma
Retinal capillary hemangioma
- MedGen UID: 152677
- Concept ID: C0730303
- Finding: Neoplastic Process
Abnormality of the nervous system
- Spinal hemangioblastoma
Spinal hemangioblastoma
- MedGen UID: 869793
- Concept ID: C4024223
- Finding: Neoplastic Process
Abnormality of the nervous system
- Cerebellar hemangioblastoma
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Tinnitus
Tinnitus
- MedGen UID: 52760
- Concept ID: C0040264
- Finding: Disease or Syndrome
Ear malformation
- Vertigo
Vertigo
- MedGen UID: 53006
- Concept ID: C0042571
- Finding: Sign or Symptom
Ear malformation
- Sensorineural hearing loss disorder
- Neoplasm
- Hepatic hemangioma
Hepatic hemangioma
- MedGen UID: 66765
- Concept ID: C0238246
- Finding: Neoplastic Process
Neoplasm
- Papillary cystadenoma of the epididymis
Papillary cystadenoma of the epididymis
- MedGen UID: 869791
- Concept ID: C4024221
- Finding: Neoplastic Process
Neoplasm
- Paraganglioma
Paraganglioma
- MedGen UID: 10571
- Concept ID: C0030421
- Finding: Neoplastic Process
Neoplasm
- Pheochromocytoma
Pheochromocytoma
- MedGen UID: 18419
- Concept ID: C0031511
- Finding: Neoplastic Process
Neoplasm
- Pulmonary capillary hemangiomatosis
Pulmonary capillary hemangiomatosis
- MedGen UID: 87404
- Concept ID: C0340548
- Finding: Disease or Syndrome
Neoplasm
- Renal cell carcinoma
Renal cell carcinoma
- MedGen UID: 766
- Concept ID: C0007134
- Finding: Neoplastic Process
Neoplasm
- Hepatic hemangioma
- NCI PDQ, Renal cell carcinoma geneticsGenetics of Renal Cell Carcinoma (PDQ®): Health Professional Version
- NCI PDQ, Von Hippel-LindauPDQ® Cancer Genetics Editorial Board. PDQ Von Hippel-Lindau Disease. Bethesda, MD: National Cancer Institute. Updated <03/08/2021>. Accessed <05/05/2021>.
- NCI PDQ, Cancer Genetics CounselingCancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version
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