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Cardiology384 papers

Von Hippel-Lindau syndrome

Last edited: 4/23/2026

Overview

Von Hippel-Lindau (VHL) syndrome is an autosomal dominant genetic disorder characterized by the development of multiple tumors across various organs, including the central nervous system, retina, kidneys, pancreas, and adrenal glands. 1 2 3 13

Diagnosis

Genetic Testing: Identification of pathogenic germline mutations in the VHL gene. 1 2 4 11 18 25 41

Imaging Studies: MRI, CT, and 68Ga-DOTATATE PET/CT for comprehensive tumor detection across multiple systems. 3 6 13 20 23 33 46

Ophthalmologic Evaluation: Regular retinal examinations to detect hemangioblastomas. 5 22 28 62

Renal Surveillance: Use of MRI-based Kidney Imaging Surveillance Scoring System (KISSS) to predict tumor growth. 6

Management

Surveillance: Regular imaging and clinical monitoring to detect and manage tumors early. 5 6 13 20 39 65

Surgical Intervention: Resection for symptomatic or growing tumors, including retinal, spinal, and brainstem hemangioblastomas. 16 36 46 59 63

Radiosurgery: Stereotactic radiosurgery for treating CNS hemangioblastomas as an alternative to surgery. 22 62

Pharmacological Therapy:

- Belzutifan: Oral hypoxia-inducible factor 2α inhibitor for retinal hemangioblastomas and other manifestations. 1 2 10 21 - Sunitinib: Tyrosine kinase inhibitor used for managing pheochromocytomas and other highly vascular tumors. 68 - Clarithromycin: Case reports suggest potential benefits, though evidence is limited. 23

Special Populations

Pregnancy: Requires careful surveillance for complications such as obstructive jaundice or neurological symptoms due to tumor growth. 76

Pediatrics: Early and frequent screening for manifestations like pheochromocytoma and retinal tumors. 57 70

Comorbidities: Management of comorbidities like hypertension secondary to pheochromocytoma requires specialized care. 6 17 68

Key Recommendations

Implement Comprehensive Genetic and Imaging Surveillance: Regular genetic testing and imaging (MRI, PET/CT) to monitor tumor development across multiple systems. (Evidence: Strong 1 3 6 13)

Utilize Belzutifan for Symptomatic Tumors: Consider belzutifan for managing retinal hemangioblastomas and other manifestations, particularly in advanced cases. (Evidence: Moderate 1 2 10)

Surgical and Radiosurgical Interventions: Employ surgical resection or stereotactic radiosurgery for symptomatic or growing tumors to prevent complications. (Evidence: Moderate 16 46 62)

Tailored Management for Special Populations: Adapt surveillance and treatment strategies for pediatric patients and pregnant women due to unique risks and needs. (Evidence: Expert opinion 57 76)

References

Showing 100 most recent of 276 indexed papers.

1 Stephenson KAJ, Ling JYM, Kolawole OU, O'Loughlin M, Chui L, Gregory-Evans CY et al.. The effect of oral belzutifan on retinal hemangioblastomas in von Hippel-Lindau syndrome. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2026. link 2 Vocke CD, Ricketts CJ, O'Brien L, Lebensohn AP, Rathi N, Nielsen D et al.. Multigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan. Urologic oncology 2026. link 3 Calderon Tobar MN, Önner H, Görgel A. All-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT. Clinical nuclear medicine 2026. link 4 Ding X, Liang T, Li B, Liang B, Li J, Wang F et al.. A nonsense mutation in . The International journal of neuroscience 2025. link 5 Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL et al.. Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease. Ophthalmology 2024. link 6 Gopal N, Anari PY, Chaurasia A, Antony M, Wakim P, Linehan WM et al.. The kidney imaging surveillance scoring system (KISSS): using qualitative MRI features to predict growth rate of renal tumors in patients with von-Hippel Lindau (VHL) syndrome. Abdominal radiology (New York) 2024. link 7 Kumar V, Kaushik V, Kumar S, Levkovich SA, Gupta P, Laor Bar-Yosef D et al.. The von Hippel-Lindau protein forms fibrillar amyloid assemblies that are mitigated by the anti-amyloid molecule Purpurin. Biochemical and biophysical research communications 2024. link 8 Bond E, Yashar B, Else T, Osborne J, Marvin M. Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease. Familial cancer 2023. link 9 Tyagi S, Kumar KC, Saluja K. How 'eye' helped in von Hippel-Lindau syndrome. European journal of ophthalmology 2023. link 10 Shepherd STC, Drake WM, Turajlic S. The road to systemic therapy in von Hippel-Lindau (VHL) disease: Are we there yet?. European journal of cancer (Oxford, England : 1990) 2023. link 11 Zhang K, Yang W, Ma K, Qiu J, Li L, Xu Y et al.. Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions. Journal of medical genetics 2023. link 12 Tsukamoto S, Koyasu S, Sugimoto A, Matsunaga M, Nakamoto Y. A Von Hippel-Lindau Disease-Associated Microcystic Adenoma of the Ethmoid Sinus Mimicking Metastatic Clear Cell Renal Cell Carcinoma. Clinical nuclear medicine 2023. link 13 Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU et al.. von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance. European journal of medical genetics 2022. link 14 Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N et al.. Management recommendations for pancreatic manifestations of von Hippel-Lindau disease. Cancer 2022. link 15 Kreuz AC, Zacharias LC, Oliveira RDL, Ferreira BFA, de Lima PP, Pimentel SLG. MASSIVE RETINAL NEOVASCULARIZATION IN VON HIPPEL-LINDAU DISEASE: ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR, VITRECTOMY, IMMUNOHISTOCHEMISTRY, AND OPTICAL COHERENCE TOMOGRAPHY FEATURES. Retinal cases & brief reports 2022. link 16 Zhang K, Qiu J, Yang W, Ma K, Li L, Xie H et al.. Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients. Journal of medical genetics 2022. link 17 Fugaru I, Goudie C, Capolicchio JP. Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings. Familial cancer 2022. link 18 Ricketts CJ, Vocke CD, Lang M, Chen X, Zhao Y, Tran B et al.. A germline 1;3 translocation disrupting the . Journal of medical genetics 2022. link 19 Chahoud J, McGettigan M, Parikh N, Boris RS, Iliopoulos O, Rathmell WK et al.. Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease. World journal of urology 2021. link 20 Sanford T, Gomella PT, Siddiqui R, Su D, An JY, Bratslavsky G et al.. Long term outcomes for patients with von Hippel-Lindau and Pheochromocytoma: defining the role of active surveillance. Urologic oncology 2021. link 21 Ward R, Ali Z, Slater K, Reynolds AL, Jensen LD, Kennedy BN. Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease. Developmental biology 2020. link 22 Signorelli F, Piscopo G, Giraud S, Guerriero S, Laborante A, Latronico ME et al.. Von Hippel-Lindau disease: when neurosurgery meets nephrology, ophthalmology and genetics. Journal of neurosurgical sciences 2019. link 23 Ma X, Jing Y, Liu Y, Yu L. Effect of clarithromycin in von Hippel-Lindau syndrome: a case report. The Journal of international medical research 2019. link 24 Shell J, Tirosh A, Millo C, Sadowski SM, Assadipour Y, Green P et al.. The utility of . European journal of radiology 2019. link 25 Albanyan S, Giles RH, Gimeno EM, Silver J, Murphy J, Faghfoury H et al.. Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease. European journal of medical genetics 2019. link 26 Shmueli MD, Levy-Kanfo L, Haj E, Schoenfeld AR, Gazit E, Segal D. Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome. Oncogene 2019. link 27 Tarade D, Ohh M. The HIF and other quandaries in VHL disease. Oncogene 2018. link 28 Binderup MLM, Stendell AS, Galanakis M, Møller HU, Kiilgaard JF, Bisgaard ML. Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. The British journal of ophthalmology 2018. link 29 Glushkova M, Dimova P, Yordanova I, Todorov T, Tourtourikov I, Mitev V et al.. Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene. The International journal of neuroscience 2018. link 30 Dağdeviren Çakır A, Turan H, Aykut A, Durmaz A, Ercan O, Evliyaoğlu O. Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation. Journal of clinical research in pediatric endocrinology 2018. link 31 Binderup ML, Galanakis M, Budtz-Jørgensen E, Kosteljanetz M, Luise Bisgaard M. Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark. European journal of human genetics : EJHG 2017. link 32 Berger MH, Kerr DA, Rangel Filho AE, Sargi ZB. Case of parotid mucoepidermoid carcinoma: Expanding the spectrum of von Hippel-Lindau-related neoplasms. Head & neck 2017. link 33 Kim HR, Greenald D, Vettori A, Markham E, Santhakumar K, Argenton F et al.. Zebrafish as a model for von Hippel Lindau and hypoxia-inducible factor signaling. Methods in cell biology 2017. link 34 Huntoon K, Wu T, Elder JB, Butman JA, Chew EY, Linehan WM et al.. Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease. Journal of neurosurgery 2016. link 35 Bausch B, Wellner U, Peyre M, Boedeker CC, Hes FJ, Anglani M et al.. Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. Head & neck 2016. link 36 Valero E, Rumiz E, Pellicer M. Cardiac Involvement in Von Hippel-Lindau Disease. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2016. link 37 Hallsworth D, Thompson J, Wilkinson D, Kerr RS, Russell R. Intracranial pressure monitoring and caesarean section in a patient with von Hippel-Lindau disease and symptomatic cerebellar haemangioblastomas. International journal of obstetric anesthesia 2015. link 38 Zhang M, Wang J, Jiang J, Zhan X, Ling Y, Lu Z et al.. Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation. Endocrine 2015. link 39 Kruizinga RC, Sluiter WJ, de Vries EG, Zonnenberg BA, Lips CJ, van der Horst-Schrivers AN et al.. Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. Endocrine-related cancer 2014. link 40 Mete T, Berker D, Yilmaz E, Ozgen G, Yalcin Y, Tuna M et al.. Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. Endocrine 2014. link 41 Coppin L, Grutzmacher C, Crépin M, Destailleur E, Giraud S, Cardot-Bauters C et al.. VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. European journal of human genetics : EJHG 2014. link 42 O' Brien FJ, Danapal M, Jairam S, Lalani AK, Cunningham J, Morrin M et al.. Manifestations of Von Hippel Lindau syndrome: a retrospective national review. QJM : monthly journal of the Association of Physicians 2014. link 43 Chauvet D, Silhouette B, Engrand N, Pradier F, Piotin M, Lot G. Multiple spinal hemangioblastomas complicated with postoperative remote cerebellar hemorrhage: review of the literature of two rare entities. World neurosurgery 2014. link 44 Igarashi H, Ito T, Nishimori I, Tamura K, Yamasaki I, Tanaka M et al.. Pancreatic involvement in Japanese patients with von Hippel-Lindau disease: results of a nationwide survey. Journal of gastroenterology 2014. link 45 Richard S, Gardie B, Couvé S, Gad S. Von Hippel-Lindau: how a rare disease illuminates cancer biology. Seminars in cancer biology 2013. link 46 Kim HJ, Hagan M, Butman JA, Baggenstos M, Brewer C, Zalewski C et al.. Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. The Laryngoscope 2013. link 47 Chen J, Geng W, Zhao Y, Zhao H, Wang G, Huang F et al.. Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico 2013. link 48 Hogan J, Turner A, Tucker K, Warwick L. Unintended diagnosis of Von Hippel Lindau syndrome using Array Comparative Genomic Hybridization (CGH): counseling challenges arising from unexpected information. Journal of genetic counseling 2013. link 49 Yavaş GF, Okur N, Küsbeci T, Norman E, Inan Ü. A case of von Hippel-Lindau disease with juxtapapillary retinal capillary hemangioma and nutcracker phenomenon. International ophthalmology 2013. link 50 Yang B, Autorino R, Remer EM, Laydner HK, Hillyer S, Altunrende F et al.. Probe ablation as salvage therapy for renal tumors in von Hippel-Lindau patients: the Cleveland Clinic experience with 3 years follow-up. Urologic oncology 2013. link 51 Lu Y, Lu J, Liu Q, Niu J, Zhang SM, Wu QY et al.. A c.464T>a mutation in VHL gene in a Chinese family with VHL syndrome. Journal of neuro-oncology 2013. link 52 Venneti S, Boateng LA, Friedman JR, Baldwin DA, Tobias JW, Judkins AR et al.. MiRNA-9 and MiRNA-200a distinguish hemangioblastomas from metastatic clear cell renal cell carcinomas in the CNS. Brain pathology (Zurich, Switzerland) 2012. link 53 Domene C, Illingworth CJ. Effects of point mutations in pVHL on the binding of HIF-1α. Proteins 2012. link 54 Bertelsen M, Kosteljanetz M. An evaluation of the Danish national clinical guidelines for von Hippel-Lindau (VHL). Acta neurochirurgica 2011. link 55 Rogers LR, LoRusso P, Nadler P, Malik G, Shields A, Kaelin W. Erlotinib therapy for central nervous system hemangioblastomatosis associated with von Hippel-Lindau disease: a case report. Journal of neuro-oncology 2011. link 56 Zhang Q, Ma L, Li WY, Chen J, Ju Y, Hui XH. Von Hippel-Lindau disease manifesting disseminated leptomeningeal hemangioblastomatosis: surgery or medication?. Acta neurochirurgica 2011. link 57 Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL. Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance. Journal of endocrinological investigation 2011. link 58 Jiang H, Shi YT, Wang JL, Tang BS, Wang JY, Peng ZF et al.. A rare Von Hippel-Lindau disease that mimics acute myelitis: case report and review of the literature. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2011. link 59 Wind JJ, Bakhtian KD, Sweet JA, Mehta GU, Thawani JP, Asthagiri AR et al.. Long-term outcome after resection of brainstem hemangioblastomas in von Hippel-Lindau disease. Journal of neurosurgery 2011. link 60 Rønning P, Andresen PA, Hald JK, Heimdal K, Scheie D, Schreiner T et al.. Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas--a population-based study. Acta neurologica Scandinavica 2010. link 61 Opatrná S, Chiangjong W, Korabecná M, Sintiprungrat K, Sinchaikul S, Chen ST et al.. Plasma proteome profiling of von Hippel-Lindau disease after total and subtotal nephrectomy: a preliminary study. Clinical biochemistry 2010. link 62 Asthagiri AR, Mehta GU, Zach L, Li X, Butman JA, Camphausen KA et al.. Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau disease. Neuro-oncology 2010. link 63 Pavesi G, Berlucchi S, Munari M, Manara R, Scienza R, Opocher G. Clinical and surgical features of lower brain stem hemangioblastomas in von Hippel-Lindau disease. Acta neurochirurgica 2010. link 64 Rao Q, Zhou J, Wang JD, Jin XZ, Ma HH, Lu ZF et al.. Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. Annals of diagnostic pathology 2010. link 65 Poulsen ML, Budtz-Jørgensen E, Bisgaard ML. Surveillance in von Hippel-Lindau disease (vHL). Clinical genetics 2010. link 66 Kanno H, Yamamoto I, Nishikawa R, Matsutani M, Wakabayashi T, Yoshida J et al.. Spinal cord hemangioblastomas in von Hippel-Lindau disease. Spinal cord 2009. link 67 Tong AL, Zeng ZP, Zhou YR, Yuan T, Cao CX, Zhang J et al.. Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family. Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih 2009. link60001-6) 68 Jimenez C, Cabanillas ME, Santarpia L, Jonasch E, Kyle KL, Lano EA et al.. Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel-Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease-related tumors. The Journal of clinical endocrinology and metabolism 2009. link 69 Courcoutsakis NA, Prassopoulos PK, Patronas NJ. Aggressive leptomeningeal hemangioblastomatosis of the central nervous system in a patient with von Hippel-Lindau disease. AJNR. American journal of neuroradiology 2009. link 70 Shively SB, Beltaifa S, Gehrs B, Duong H, Smith J, Edwards NA et al.. Protracted haemangioblastic proliferation and differentiation in von Hippel-Lindau disease. The Journal of pathology 2008. link 71 Akcaglar S, Yavascaoglu I, Vuruskan H, Oktay B. Genetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosis. International urology and nephrology 2008. link 72 Wong WT, Agrón E, Coleman HR, Tran T, Reed GF, Csaky K et al.. Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. Ophthalmology 2008. link 73 Song DK, Lonser RR. Pathological satiety caused by brainstem hemangioblastoma. Journal of neurosurgery. Pediatrics 2008. link 74 Fomekong E, Hernalsteen D, Godfraind C, D'Haens J, Raftopoulos C. Pituitary stalk hemangioblastoma: the fourth case report and review of the literature. Clinical neurology and neurosurgery 2007. link 75 Violaris K, Siozos T, Skoulios N, Sakellariou P. A case report of a family with 7 patients of the Von Hippel-Lindau disease. Surgical neurology 2007. link 76 Boujaoude J, Samaha E, Honein K, Noun R, Abboud B, Ghorra C et al.. A benign cause of obstructive jaundice with von Hippel-Lindau disease. A case report and review of the literature. JOP : Journal of the pancreas 2007. link 77 Blansfield JA, Choyke L, Morita SY, Choyke PL, Pingpank JF, Alexander HR et al.. Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). Surgery 2007. link 78 Zhou M, Shen D, Head JE, Chew EY, Chévez-Barrios P, Green WR et al.. Ocular clusterin expression in von Hippel-Lindau disease. Molecular vision 2007. link 79 Liang X, Shen D, Huang Y, Yin C, Bojanowski CM, Zhuang Z et al.. Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. Ophthalmology 2007. link 80 Santarpia L, Sarlis NJ, Santarpia M, Sherman SI, Trimarchi F, Benvenga S. Mosaicism in von Hippel-Lindau disease: an event important to recognize. Journal of cellular and molecular medicine 2007. link 81 Gläsker S, Lonser RR, Tran MG, Ikejiri B, Butman JA, Zeng W et al.. Effects of VHL deficiency on endolymphatic duct and sac. Cancer research 2005. link 82 Altinoz MA, Santaguida C, Guiot MC, Del Maestro RF. Spinal hemangioblastoma containing metastatic renal cell carcinoma in von Hippel-Lindau disease. Case report and review of the literature. Journal of neurosurgery. Spine 2005. link 83 Schmidt D, Neumann HP. Spontaneous regression of retinal angiomatous lesions in v. Hippel-Lindau disease (VHL). European journal of medical research 2005. link 84 Fiske J, Patel R, Kau E, Pappas JG, Garcia RA, Taneja SS. Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation. Urology 2005. link 85 Valenzuela A, Druker H, Malkin D, Gallie B, Héon E. Unusual ocular presentation of von Hippel-Lindau disease. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie 2005. link80051-1) 86 Fitz EW, Newman SA. Neuro-ophthalmology of von Hippel-Lindau. Current neurology and neuroscience reports 2004. link 87 Inoue M, Yamazaki K, Shinoda K, Ishida S, Shinoda H, Noda K et al.. A clinicopathologic case report on macular hole associated with von Hippel-Lindau disease: a novel ultrastructural finding of wormlike, wavy tangles of filaments. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2004. link 88 Eras M, Yenigun M, Acar C, Kumbasar B, Sar F, Bilge T. Pancreatic involvement in Von Hippel-Lindau disease. Indian journal of cancer 2004. link 89 Maher ER. Von Hippel-Lindau disease. Current molecular medicine 2004. link 90 Alfadhli S, Salim M, Al-Awadi S. A novel germline mutation in the von Hippel-Lindau gene in patients in Kuwait. Medical principles and practice : international journal of the Kuwait University, Health Science Centre 2004. link 91 Raju B, Majji AB, Jalali S. von Hippel angioma in South Indian subjects--a clinical study. Retina (Philadelphia, Pa.) 2003. link 92 Vortmeyer AO, Frank S, Jeong SY, Yuan K, Ikejiri B, Lee YS et al.. Developmental arrest of angioblastic lineage initiates tumorigenesis in von Hippel-Lindau disease. Cancer research 2003. link 93 Okuyama M, Fujiwara Y, Hayakawa T, Shiba M, Watanabe T, Tominaga K et al.. Esophagogastric varices due to arterioportal shunt in a serous cystadenoma of the pancreas in von Hippel-Lindau disease. Digestive diseases and sciences 2003. link 94 Van Velthoven V, Reinacher PC, Klisch J, Neumann HP, Gläsker S. Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. Neurosurgery 2003. link 95 Kaelin WG. Molecular basis of the VHL hereditary cancer syndrome. Nature reviews. Cancer 2002. link 96 Dollfus H, Massin P, Taupin P, Nemeth C, Amara S, Giraud S et al.. Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. Investigative ophthalmology & visual science 2002. link 97 Mukhopadhyay B, Sahdev A, Monson JP, Besser GM, Reznek RH, Chew SL. Pancreatic lesions in von Hippel-Lindau disease. Clinical endocrinology 2002. link 98 Aiello LP, George DJ, Cahill MT, Wong JS, Cavallerano J, Hannah AL et al.. Rapid and durable recovery of visual function in a patient with von hippel-lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416. Ophthalmology 2002. link01159-4) 99 Weirich G, Klein B, Wöhl T, Engelhardt D, Brauch H. VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. The Journal of clinical endocrinology and metabolism 2002. link 100 Allen RC, Webster AR, Sui R, Brown J, Taylor CM, Stone EM. Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. Archives of ophthalmology (Chicago, Ill. : 1960) 2001. link

Original source

[1]
The effect of oral belzutifan on retinal hemangioblastomas in von Hippel-Lindau syndrome. — Stephenson KAJ, Ling JYM, Kolawole OU, O'Loughlin M, Chui L, Gregory-Evans CY et al. Canadian journal of ophthalmology. Journal canadien d'ophtalmologie (2026)
[2]
Multigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan. — Vocke CD, Ricketts CJ, O'Brien L, Lebensohn AP, Rathi N, Nielsen D et al. Urologic oncology (2026)
[3]
All-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT. — Calderon Tobar MN, Önner H, Görgel A Clinical nuclear medicine (2026)
[4]
A nonsense mutation in — Ding X, Liang T, Li B, Liang B, Li J, Wang F et al. The International journal of neuroscience (2025)
[5]
Consensus Guidelines for Ocular Surveillance of von Hippel-Lindau Disease. — Daniels AB, Chang EY, Chew EY, Gombos DS, Gorin MB, Shields CL et al. Ophthalmology (2024)
[6]
The kidney imaging surveillance scoring system (KISSS): using qualitative MRI features to predict growth rate of renal tumors in patients with von-Hippel Lindau (VHL) syndrome. — Gopal N, Anari PY, Chaurasia A, Antony M, Wakim P, Linehan WM et al. Abdominal radiology (New York) (2024)
[7]
The von Hippel-Lindau protein forms fibrillar amyloid assemblies that are mitigated by the anti-amyloid molecule Purpurin. — Kumar V, Kaushik V, Kumar S, Levkovich SA, Gupta P, Laor Bar-Yosef D et al. Biochemical and biophysical research communications (2024)
[8]
Disclosure of genetic risk to dating partners among young adults with von Hippel-Lindau disease. — Bond E, Yashar B, Else T, Osborne J, Marvin M Familial cancer (2023)
[9]
How 'eye' helped in von Hippel-Lindau syndrome. — Tyagi S, Kumar KC, Saluja K European journal of ophthalmology (2023)
[10]
The road to systemic therapy in von Hippel-Lindau (VHL) disease: Are we there yet? — Shepherd STC, Drake WM, Turajlic S European journal of cancer (Oxford, England : 1990) (2023)
[11]
Genotype-phenotype correlations and clinical outcomes of patients with von Hippel-Lindau disease with large deletions. — Zhang K, Yang W, Ma K, Qiu J, Li L, Xu Y et al. Journal of medical genetics (2023)
[12]
A Von Hippel-Lindau Disease-Associated Microcystic Adenoma of the Ethmoid Sinus Mimicking Metastatic Clear Cell Renal Cell Carcinoma. — Tsukamoto S, Koyasu S, Sugimoto A, Matsunaga M, Nakamoto Y Clinical nuclear medicine (2023)
[13]
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance. — Louise M Binderup M, Smerdel M, Borgwadt L, Beck Nielsen SS, Madsen MG, Møller HU et al. European journal of medical genetics (2022)
[14]
Management recommendations for pancreatic manifestations of von Hippel-Lindau disease. — Laks S, van Leeuwaarde R, Patel D, Keutgen XM, Hammel P, Nilubol N et al. Cancer (2022)
[15]
MASSIVE RETINAL NEOVASCULARIZATION IN VON HIPPEL-LINDAU DISEASE: ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR, VITRECTOMY, IMMUNOHISTOCHEMISTRY, AND OPTICAL COHERENCE TOMOGRAPHY FEATURES. — Kreuz AC, Zacharias LC, Oliveira RDL, Ferreira BFA, de Lima PP, Pimentel SLG Retinal cases & brief reports (2022)
[16]
Clinical characteristics and risk factors for survival in affected offspring of von Hippel-Lindau disease patients. — Zhang K, Qiu J, Yang W, Ma K, Li L, Xie H et al. Journal of medical genetics (2022)
[17]
Von Hippel-Lindau disease and rapidly progressing pheochromocytomas in siblings. — Fugaru I, Goudie C, Capolicchio JP Familial cancer (2022)
[18]
A germline 1;3 translocation disrupting the — Ricketts CJ, Vocke CD, Lang M, Chen X, Zhao Y, Tran B et al. Journal of medical genetics (2022)
[19]
Evaluation, diagnosis and surveillance of renal masses in the setting of VHL disease. — Chahoud J, McGettigan M, Parikh N, Boris RS, Iliopoulos O, Rathmell WK et al. World journal of urology (2021)
[20]
Long term outcomes for patients with von Hippel-Lindau and Pheochromocytoma: defining the role of active surveillance. — Sanford T, Gomella PT, Siddiqui R, Su D, An JY, Bratslavsky G et al. Urologic oncology (2021)
[21]
Pharmacological restoration of visual function in a zebrafish model of von-Hippel Lindau disease. — Ward R, Ali Z, Slater K, Reynolds AL, Jensen LD, Kennedy BN Developmental biology (2020)
[22]
Von Hippel-Lindau disease: when neurosurgery meets nephrology, ophthalmology and genetics. — Signorelli F, Piscopo G, Giraud S, Guerriero S, Laborante A, Latronico ME et al. Journal of neurosurgical sciences (2019)
[23]
Effect of clarithromycin in von Hippel-Lindau syndrome: a case report. — Ma X, Jing Y, Liu Y, Yu L The Journal of international medical research (2019)
[24]
The utility of — Shell J, Tirosh A, Millo C, Sadowski SM, Assadipour Y, Green P et al. European journal of radiology (2019)
[25]
Characterization of VHL promoter variants in patients suspected of Von Hippel-Lindau disease. — Albanyan S, Giles RH, Gimeno EM, Silver J, Murphy J, Faghfoury H et al. European journal of medical genetics (2019)
[26]
Arginine refolds, stabilizes, and restores function of mutant pVHL proteins in animal model of the VHL cancer syndrome. — Shmueli MD, Levy-Kanfo L, Haj E, Schoenfeld AR, Gazit E, Segal D Oncogene (2019)
[27]
The HIF and other quandaries in VHL disease. — Tarade D, Ohh M Oncogene (2018)
[28]
Retinal hemangioblastoma: prevalence, incidence and frequency of underlying von Hippel-Lindau disease. — Binderup MLM, Stendell AS, Galanakis M, Møller HU, Kiilgaard JF, Bisgaard ML The British journal of ophthalmology (2018)
[29]
Molecular-genetic diagnostics of von Hippel-Lindau syndrome (VHL) in Bulgaria: first complex mutation event in the VHL gene. — Glushkova M, Dimova P, Yordanova I, Todorov T, Tourtourikov I, Mitev V et al. The International journal of neuroscience (2018)
[30]
Two Childhood Pheochromocytoma Cases due to von Hippel-Lindau Disease, One Associated with Pancreatic Neuroendocrine Tumor: A Very Rare Manifestation. — Dağdeviren Çakır A, Turan H, Aykut A, Durmaz A, Ercan O, Evliyaoğlu O Journal of clinical research in pediatric endocrinology (2018)
[31]
Prevalence, birth incidence, and penetrance of von Hippel-Lindau disease (vHL) in Denmark. — Binderup ML, Galanakis M, Budtz-Jørgensen E, Kosteljanetz M, Luise Bisgaard M European journal of human genetics : EJHG (2017)
[32]
Case of parotid mucoepidermoid carcinoma: Expanding the spectrum of von Hippel-Lindau-related neoplasms. — Berger MH, Kerr DA, Rangel Filho AE, Sargi ZB Head & neck (2017)
[33]
Zebrafish as a model for von Hippel Lindau and hypoxia-inducible factor signaling. — Kim HR, Greenald D, Vettori A, Markham E, Santhakumar K, Argenton F et al. Methods in cell biology (2017)
[34]
Biological and clinical impact of hemangioblastoma-associated peritumoral cysts in von Hippel-Lindau disease. — Huntoon K, Wu T, Elder JB, Butman JA, Chew EY, Linehan WM et al. Journal of neurosurgery (2016)
[35]
Characterization of endolymphatic sac tumors and von Hippel-Lindau disease in the International Endolymphatic Sac Tumor Registry. — Bausch B, Wellner U, Peyre M, Boedeker CC, Hes FJ, Anglani M et al. Head & neck (2016)
[36]
Cardiac Involvement in Von Hippel-Lindau Disease. — Valero E, Rumiz E, Pellicer M Medical principles and practice : international journal of the Kuwait University, Health Science Centre (2016)
[37]
Intracranial pressure monitoring and caesarean section in a patient with von Hippel-Lindau disease and symptomatic cerebellar haemangioblastomas. — Hallsworth D, Thompson J, Wilkinson D, Kerr RS, Russell R International journal of obstetric anesthesia (2015)
[38]
Von Hippel-Lindau disease type 2 in a Chinese family with a VHL p.W88X truncation. — Zhang M, Wang J, Jiang J, Zhan X, Ling Y, Lu Z et al. Endocrine (2015)
[39]
Calculating optimal surveillance for detection of von Hippel-Lindau-related manifestations. — Kruizinga RC, Sluiter WJ, de Vries EG, Zonnenberg BA, Lips CJ, van der Horst-Schrivers AN et al. Endocrine-related cancer (2014)
[40]
Clinical presentation of Von Hippel Lindau syndrome type 2B associated with VHL p.A149S mutation in a large Turkish family. — Mete T, Berker D, Yilmaz E, Ozgen G, Yalcin Y, Tuna M et al. Endocrine (2014)
[41]
VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. — Coppin L, Grutzmacher C, Crépin M, Destailleur E, Giraud S, Cardot-Bauters C et al. European journal of human genetics : EJHG (2014)
[42]
Manifestations of Von Hippel Lindau syndrome: a retrospective national review. — O' Brien FJ, Danapal M, Jairam S, Lalani AK, Cunningham J, Morrin M et al. QJM : monthly journal of the Association of Physicians (2014)
[43]
Multiple spinal hemangioblastomas complicated with postoperative remote cerebellar hemorrhage: review of the literature of two rare entities. — Chauvet D, Silhouette B, Engrand N, Pradier F, Piotin M, Lot G World neurosurgery (2014)
[44]
Pancreatic involvement in Japanese patients with von Hippel-Lindau disease: results of a nationwide survey. — Igarashi H, Ito T, Nishimori I, Tamura K, Yamasaki I, Tanaka M et al. Journal of gastroenterology (2014)
[45]
Von Hippel-Lindau: how a rare disease illuminates cancer biology. — Richard S, Gardie B, Couvé S, Gad S Seminars in cancer biology (2013)
[46]
Surgical resection of endolymphatic sac tumors in von Hippel-Lindau disease: findings, results, and indications. — Kim HJ, Hagan M, Butman JA, Baggenstos M, Brewer C, Zalewski C et al. The Laryngoscope (2013)
[47]
Clinical and mutation analysis of four Chinese families with von Hippel-Lindau disease. — Chen J, Geng W, Zhao Y, Zhao H, Wang G, Huang F et al. Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico (2013)
[48]
Unintended diagnosis of Von Hippel Lindau syndrome using Array Comparative Genomic Hybridization (CGH): counseling challenges arising from unexpected information. — Hogan J, Turner A, Tucker K, Warwick L Journal of genetic counseling (2013)
[49]
A case of von Hippel-Lindau disease with juxtapapillary retinal capillary hemangioma and nutcracker phenomenon. — Yavaş GF, Okur N, Küsbeci T, Norman E, Inan Ü International ophthalmology (2013)
[50]
Probe ablation as salvage therapy for renal tumors in von Hippel-Lindau patients: the Cleveland Clinic experience with 3 years follow-up. — Yang B, Autorino R, Remer EM, Laydner HK, Hillyer S, Altunrende F et al. Urologic oncology (2013)
[51]
A c.464T>a mutation in VHL gene in a Chinese family with VHL syndrome. — Lu Y, Lu J, Liu Q, Niu J, Zhang SM, Wu QY et al. Journal of neuro-oncology (2013)
[52]
MiRNA-9 and MiRNA-200a distinguish hemangioblastomas from metastatic clear cell renal cell carcinomas in the CNS. — Venneti S, Boateng LA, Friedman JR, Baldwin DA, Tobias JW, Judkins AR et al. Brain pathology (Zurich, Switzerland) (2012)
[53]
Effects of point mutations in pVHL on the binding of HIF-1α. — Domene C, Illingworth CJ Proteins (2012)
[54]
An evaluation of the Danish national clinical guidelines for von Hippel-Lindau (VHL). — Bertelsen M, Kosteljanetz M Acta neurochirurgica (2011)
[55]
Erlotinib therapy for central nervous system hemangioblastomatosis associated with von Hippel-Lindau disease: a case report. — Rogers LR, LoRusso P, Nadler P, Malik G, Shields A, Kaelin W Journal of neuro-oncology (2011)
[56]
Von Hippel-Lindau disease manifesting disseminated leptomeningeal hemangioblastomatosis: surgery or medication? — Zhang Q, Ma L, Li WY, Chen J, Ju Y, Hui XH Acta neurochirurgica (2011)
[57]
Pediatric endocrine screening for von Hippel-Lindau disease: benefits and the challenge of compliance. — Prasad R, Johnston LB, Savage MO, Martin L, Perry LA, Storr HL Journal of endocrinological investigation (2011)
[58]
A rare Von Hippel-Lindau disease that mimics acute myelitis: case report and review of the literature. — Jiang H, Shi YT, Wang JL, Tang BS, Wang JY, Peng ZF et al. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2011)
[59]
Long-term outcome after resection of brainstem hemangioblastomas in von Hippel-Lindau disease. — Wind JJ, Bakhtian KD, Sweet JA, Mehta GU, Thawani JP, Asthagiri AR et al. Journal of neurosurgery (2011)
[60]
Low frequency of VHL germline mutations in Norwegian patients presenting with isolated central nervous system hemangioblastomas--a population-based study. — Rønning P, Andresen PA, Hald JK, Heimdal K, Scheie D, Schreiner T et al. Acta neurologica Scandinavica (2010)
[61]
Plasma proteome profiling of von Hippel-Lindau disease after total and subtotal nephrectomy: a preliminary study. — Opatrná S, Chiangjong W, Korabecná M, Sintiprungrat K, Sinchaikul S, Chen ST et al. Clinical biochemistry (2010)
[62]
Prospective evaluation of radiosurgery for hemangioblastomas in von Hippel-Lindau disease. — Asthagiri AR, Mehta GU, Zach L, Li X, Butman JA, Camphausen KA et al. Neuro-oncology (2010)
[63]
Clinical and surgical features of lower brain stem hemangioblastomas in von Hippel-Lindau disease. — Pavesi G, Berlucchi S, Munari M, Manara R, Scienza R, Opocher G Acta neurochirurgica (2010)
[64]
Endolymphatic sac tumor with von Hippel-Lindau disease: report of a case with analysis of von Hippel-Lindau gene and review. — Rao Q, Zhou J, Wang JD, Jin XZ, Ma HH, Lu ZF et al. Annals of diagnostic pathology (2010)
[65]
Surveillance in von Hippel-Lindau disease (vHL). — Poulsen ML, Budtz-Jørgensen E, Bisgaard ML Clinical genetics (2010)
[66]
Spinal cord hemangioblastomas in von Hippel-Lindau disease. — Kanno H, Yamamoto I, Nishikawa R, Matsutani M, Wakabayashi T, Yoshida J et al. Spinal cord (2009)
[67]
Bilateral pheochromocytoma as first presentation of von Hippel-Lindau disease in a Chinese family. — Tong AL, Zeng ZP, Zhou YR, Yuan T, Cao CX, Zhang J et al. Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih (2009)
[68]
Use of the tyrosine kinase inhibitor sunitinib in a patient with von Hippel-Lindau disease: targeting angiogenic factors in pheochromocytoma and other von Hippel-Lindau disease-related tumors. — Jimenez C, Cabanillas ME, Santarpia L, Jonasch E, Kyle KL, Lano EA et al. The Journal of clinical endocrinology and metabolism (2009)
[69]
Aggressive leptomeningeal hemangioblastomatosis of the central nervous system in a patient with von Hippel-Lindau disease. — Courcoutsakis NA, Prassopoulos PK, Patronas NJ AJNR. American journal of neuroradiology (2009)
[70]
Protracted haemangioblastic proliferation and differentiation in von Hippel-Lindau disease. — Shively SB, Beltaifa S, Gehrs B, Duong H, Smith J, Edwards NA et al. The Journal of pathology (2008)
[71]
Genetic evaluation of von Hippel-Lindau disease for early diagnosis and improved prognosis. — Akcaglar S, Yavascaoglu I, Vuruskan H, Oktay B International urology and nephrology (2008)
[72]
Clinical characterization of retinal capillary hemangioblastomas in a large population of patients with von Hippel-Lindau disease. — Wong WT, Agrón E, Coleman HR, Tran T, Reed GF, Csaky K et al. Ophthalmology (2008)
[73]
Pathological satiety caused by brainstem hemangioblastoma. — Song DK, Lonser RR Journal of neurosurgery. Pediatrics (2008)
[74]
Pituitary stalk hemangioblastoma: the fourth case report and review of the literature. — Fomekong E, Hernalsteen D, Godfraind C, D'Haens J, Raftopoulos C Clinical neurology and neurosurgery (2007)
[75]
A case report of a family with 7 patients of the Von Hippel-Lindau disease. — Violaris K, Siozos T, Skoulios N, Sakellariou P Surgical neurology (2007)
[76]
A benign cause of obstructive jaundice with von Hippel-Lindau disease. A case report and review of the literature. — Boujaoude J, Samaha E, Honein K, Noun R, Abboud B, Ghorra C et al. JOP : Journal of the pancreas (2007)
[77]
Clinical, genetic and radiographic analysis of 108 patients with von Hippel-Lindau disease (VHL) manifested by pancreatic neuroendocrine neoplasms (PNETs). — Blansfield JA, Choyke L, Morita SY, Choyke PL, Pingpank JF, Alexander HR et al. Surgery (2007)
[78]
Ocular clusterin expression in von Hippel-Lindau disease. — Zhou M, Shen D, Head JE, Chew EY, Chévez-Barrios P, Green WR et al. Molecular vision (2007)
[79]
Molecular pathology and CXCR4 expression in surgically excised retinal hemangioblastomas associated with von Hippel-Lindau disease. — Liang X, Shen D, Huang Y, Yin C, Bojanowski CM, Zhuang Z et al. Ophthalmology (2007)
[80]
Mosaicism in von Hippel-Lindau disease: an event important to recognize. — Santarpia L, Sarlis NJ, Santarpia M, Sherman SI, Trimarchi F, Benvenga S Journal of cellular and molecular medicine (2007)
[81]
Effects of VHL deficiency on endolymphatic duct and sac. — Gläsker S, Lonser RR, Tran MG, Ikejiri B, Butman JA, Zeng W et al. Cancer research (2005)
[82]
Spinal hemangioblastoma containing metastatic renal cell carcinoma in von Hippel-Lindau disease. Case report and review of the literature. — Altinoz MA, Santaguida C, Guiot MC, Del Maestro RF Journal of neurosurgery. Spine (2005)
[83]
Spontaneous regression of retinal angiomatous lesions in v. Hippel-Lindau disease (VHL). — Schmidt D, Neumann HP European journal of medical research (2005)
[84]
Multifocal renal oncocytoma in a patient with Von Hippel-Lindau mutation. — Fiske J, Patel R, Kau E, Pappas JG, Garcia RA, Taneja SS Urology (2005)
[85]
Unusual ocular presentation of von Hippel-Lindau disease. — Valenzuela A, Druker H, Malkin D, Gallie B, Héon E Canadian journal of ophthalmology. Journal canadien d'ophtalmologie (2005)
[86]
Neuro-ophthalmology of von Hippel-Lindau. — Fitz EW, Newman SA Current neurology and neuroscience reports (2004)
[87]
A clinicopathologic case report on macular hole associated with von Hippel-Lindau disease: a novel ultrastructural finding of wormlike, wavy tangles of filaments. — Inoue M, Yamazaki K, Shinoda K, Ishida S, Shinoda H, Noda K et al. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2004)
[88]
Pancreatic involvement in Von Hippel-Lindau disease. — Eras M, Yenigun M, Acar C, Kumbasar B, Sar F, Bilge T Indian journal of cancer (2004)
[89]
Von Hippel-Lindau disease. — Maher ER Current molecular medicine (2004)
[90]
A novel germline mutation in the von Hippel-Lindau gene in patients in Kuwait. — Alfadhli S, Salim M, Al-Awadi S Medical principles and practice : international journal of the Kuwait University, Health Science Centre (2004)
[91]
von Hippel angioma in South Indian subjects--a clinical study. — Raju B, Majji AB, Jalali S Retina (Philadelphia, Pa.) (2003)
[92]
Developmental arrest of angioblastic lineage initiates tumorigenesis in von Hippel-Lindau disease. — Vortmeyer AO, Frank S, Jeong SY, Yuan K, Ikejiri B, Lee YS et al. Cancer research (2003)
[93]
Esophagogastric varices due to arterioportal shunt in a serous cystadenoma of the pancreas in von Hippel-Lindau disease. — Okuyama M, Fujiwara Y, Hayakawa T, Shiba M, Watanabe T, Tominaga K et al. Digestive diseases and sciences (2003)
[94]
Treatment of intramedullary hemangioblastomas, with special attention to von Hippel-Lindau disease. — Van Velthoven V, Reinacher PC, Klisch J, Neumann HP, Gläsker S Neurosurgery (2003)
[95]
Molecular basis of the VHL hereditary cancer syndrome. — Kaelin WG Nature reviews. Cancer (2002)
[96]
Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study. — Dollfus H, Massin P, Taupin P, Nemeth C, Amara S, Giraud S et al. Investigative ophthalmology & visual science (2002)
[97]
Pancreatic lesions in von Hippel-Lindau disease. — Mukhopadhyay B, Sahdev A, Monson JP, Besser GM, Reznek RH, Chew SL Clinical endocrinology (2002)
[98]
Rapid and durable recovery of visual function in a patient with von hippel-lindau syndrome after systemic therapy with vascular endothelial growth factor receptor inhibitor su5416. — Aiello LP, George DJ, Cahill MT, Wong JS, Cavallerano J, Hannah AL et al. Ophthalmology (2002)
[99]
VHL2C phenotype in a German von Hippel-Lindau family with concurrent VHL germline mutations P81S and L188V. — Weirich G, Klein B, Wöhl T, Engelhardt D, Brauch H The Journal of clinical endocrinology and metabolism (2002)
[100]
Molecular characterization and ophthalmic investigation of a large family with type 2A Von Hippel-Lindau Disease. — Allen RC, Webster AR, Sui R, Brown J, Taylor CM, Stone EM Archives of ophthalmology (Chicago, Ill. : 1960) (2001)

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