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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

Illnessvon Hippel-Lindau syndrome


Short information

Differential diagnostic panel for von Hippel-Lindau-syndrome comprising 2 curated genes according to the clinical signs

Number of genes
2 Accredited laboratory test
Examined sequence length
1,6 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications




Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
CCND1888AD, Gen Fusion

Informations about the disease

Clinical Comment

In hereditary von Hippel-Lindau syndrome (VHL) tumours develop in several organs, such as haemangioblastomas or retinal angiomas, renal cell carcinoma, neuroendocrine pancreatic tumours, adrenal carcinomata or phaeochromocytomas. "Benign" cysts may be found in the kidneys, pancreas, epididymis or fallopian tubes as well as endolymphatic sac tumours in the inner ear. The risks for haemangioblastomas exceed 60%, neuroendocrine tumours occur in about 10% of the mutation carriers in the VHL gene, the inheritance is autosomal dominant. One tenth of the VHL mutations are de novo, VHL mutations can be detected in practically all VHL patients. Penetrance is almost 100% from the age of 65 onwards. CCND1 gene variations can only modify the effects of the VHL gene mutation.

References: https://www.ncbi.nlm.nih.gov/books/NBK1463/


  • Alias: Familial cerebelloretinal angiomatosis
  • Alias: Lindau disease
  • Alias: Retinal, cerebellar tumors, spinal hemangioblast., pheochromocytoma, renal cell + pancreas Ca
  • Allelic: Colorectal cancer, susceptibility to (CCND1)
  • Allelic: Multiple myeloma, susceptibility to (CCND1)
  • Erythrocytosis, familial, 2 (VHL)
  • Hemangioblastoma, cerebellar, somatic (VHL)
  • Pheochromocytoma (VHL)
  • Renal cell carcinoma, somatic (VHL)
  • von Hippel-Lindau syndrome (VHL)
  • von Hippel-Lindau syndrome, modifier of (CCND1)
Heredity, heredity patterns etc.
  • AD
  • AR
  • Gen Fusion
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined