Von Hippel-Lindau disease (VHL): clinical features
Evidence-based neurology checklist on von hippel-lindau disease (vhl): clinical features: Genetics This is caused by VHL tumour suppressor gene (TSG) mutations The gene is on chromosome 3p The transmission is autosomal dominant A fifth of mutations are de novo Classification Clinical features…
Genetics
- This is caused by VHL tumour suppressor gene (TSG) mutations
- The gene is on chromosome 3p
- The transmission is autosomal dominant
- A fifth of mutations are de novo
Classification
Clinical features
Diagnostic criteria
References
- Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet 2011; 19:617-623.
- Quigg M, Rust RS, Miller JQ. Clinical findings of the phakomatoses: von Hippel-Lindau disease. Neurology 2006; 66:E33-E34.
- Shuin T, Yamasaki I, Tamura K, Okuda H, Furihata M, Ashida S. Von Hippel-Lindau disease: molecular pathological basis, clinical criteria, genetic testing, clinical features of tumors and treatment. Jpn J Clin Oncol 2006; 36:337-443.
- Szatko A, Glinicki P, Gietka-Czernel M. Pheochromocytoma/paraganglioma-associated cardiomyopathy. Front Endocrinol (Lausanne) 2023; 14:1204851.
- Yu M, Du B, Yao S, Ma J, Yang P. Von Hippel-Lindau syndrome with a rare complication of dilated cardiomyopathy: a case report. BMC Cardiovasc Disord 2022; 22:489.
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