Von Hippel-Lindau syndrome [1 gene]

Von Hippel-Lindau syndrome is characterized by the development of hemangioblastomas in the brain, spinal cord and retina. Likewise, to the appearance of renal cysts and clear cell renal carcinoma, to the development of pheochromocytoma and paraganglioma, pancreatic cysts and neuroendocrine tumors, endolymphatic sac tumors and epididymal cystadenomas.

Cerebellar hemangioblastomas may be associated with headache, vomiting, gait disturbances, or ataxia. Spinal hemangioblastomas usually present with pain. Sensory and motor loss can develop with compression of the spinal cord.

Von Hippel – Lindau: 1/36,000 newborns (ORPHA:892).

The diagnosis of the disease allows for personalized follow-up of the patient, which allows early detection of associated comorbidities, thus improving the long-term prognosis.

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Von Hippel-Lindau syndrome

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202314049

Von Hippel-Lindau syndrome: View panel
  • VHL

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. van Leeuwaarde RS, Ahmad S, van Nesselrooij B, et al. Von Hippel-Lindau Syndrome. 2000 May 17 [Updated 2023 Sep 21]. In: Adam MP, Mirzaa GM, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2023. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1463/
  2. Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU, Kiilgaard JF, Friis-Hansen L, Harbud V, Cortnum S, Owen H, Gimsing S, Friis Juhl HA, Munthe S, Geilswijk M, Rasmussen ÅK, Møldrup U, Graumann O, Donskov F, Grønbæk H, Stausbøl-Grøn B, Schaffalitzky de Muckadell O, Knigge U, Dam G, Wadt KA, Bøgeskov L, Bagi P, Lund L, Stochholm K, Ousager LB, Sunde L. von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance. Eur J Med Genet. 2022 Aug;65(8):104538. doi: 10.1016/j.ejmg.2022.104538. Epub 2022 Jun 13. PMID: 35709961.