Doença autossômica dominante causada por variantes patogênicas no gene VHL, levando a um risco aumentado de vários tumores benignos e malignos, incluindo hemangioblastomas, hemangiomas retinais, tumores do saco endolinfático, carcinoma de células renais e feocromocitomas.
Introdução
O que você precisa saber de cara
Doença autossômica dominante causada por variantes patogênicas no gene VHL, levando a um risco aumentado de vários tumores benignos e malignos, incluindo hemangioblastomas, hemangiomas retinais, tumores do saco endolinfático, carcinoma de células renais e feocromocitomas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 18 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 49 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Involved in the ubiquitination and subsequent proteasomal degradation via the von Hippel-Lindau ubiquitination complex (PubMed:10944113, PubMed:17981124, PubMed:19584355). Seems to act as a target recruitment subunit in the E3 ubiquitin ligase complex and recruits hydroxylated hypoxia-inducible factor (HIF) under normoxic conditions (PubMed:10944113, PubMed:17981124). Involved in transcriptional repression through interaction with HIF1A, HIF1AN and histone deacetylases (PubMed:10944113, PubMed:1
CytoplasmCell membraneEndoplasmic reticulumNucleus
Pheochromocytoma
A catecholamine-producing tumor of chromaffin tissue of the adrenal medulla or sympathetic paraganglia. The cardinal symptom, reflecting the increased secretion of epinephrine and norepinephrine, is hypertension, which may be persistent or intermittent.
Regulatory component of the cyclin D1-CDK4 (DC) complex that phosphorylates and inhibits members of the retinoblastoma (RB) protein family including RB1 and regulates the cell-cycle during G(1)/S transition (PubMed:1827756, PubMed:1833066, PubMed:19412162, PubMed:33854235, PubMed:8114739, PubMed:8302605). Phosphorylation of RB1 allows dissociation of the transcription factor E2F from the RB/E2F complex and the subsequent transcription of E2F target genes which are responsible for the progression
NucleusCytoplasmNucleus membrane
Medicamentos e terapias
Mecanismo: Endothelial PAS domain-containing protein 1 inhibitor
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Mecanismo: Fibroblast growth factor receptor 3 inhibitor
Mecanismo: Vascular endothelial growth factor receptor inhibitor
Variantes genéticas (ClinVar)
760 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
25 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença de von Hippel-Lindau
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
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Outros ensaios clínicos
60 ensaios clínicos encontrados, 21 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 842
Whole-Genome Landscape of Retinal Hemangioblastomas.
Retinal hemangioblastomas (RHs) are rare benign vascular tumors that present mostly as manifestations of Von Hippel-Lindau (VHL) syndrome. In contrast to other VHL syndrome-associated tumors, only a handful of molecular studies have been published on RHs. It remains unclear whether VHL alterations alone drive RH tumorigenesis. Whole-genome sequencing (WGS) was performed on germline- and RHs-derived DNA of five patients. Additionally, transcriptomes of four unaffected retinas and five choroid controls were compared with those of RH biopsies. Heterozygous germline missense variants and copy number losses impacting VHL were identified. In all RH biopsies, mosaic loss of chromosome 3 was present, indicating the "second hit" in RHs is likely loss of the complete wild-type chromosome 3. Few additional somatic short nucleotide variants (SNVs) indels, or structural variants with deleterious potential were detected, suggesting that somatic changes are rare but not limited to the VHL gene region. RNA sequencing revealed reduced VHL expression in tumor tissue and downstream gene expression changes consistent with loss of VHL expression. RHs have few somatic changes. Loss of chromosome 3 is likely the second hit in RHs with germline VHL alterations. RHs are benign neoplasms with little somatic changes compared with other VHL-syndrome associated tumors. Variants affecting VHL impact downstream gene expression, variants impacting different VHL domains result in differential gene expression of these downstream targets. RNA sequencing may aid in the evaluation of variants of unknown significance.
Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
The combination of disease manifestations, the familial burden, and varying penetrance of endocrine tumor syndromes (ETSs) is unique. This review aimed to portray and summarize available data on psychosocial outcomes in patients with ETSs and explore gaps and opportunities for future research and care. Literature was systematically searched for articles on psychosocial outcomes in patients with multiple endocrine neoplasia (MEN), von Hippel-Lindau (VHL), and pathogenic variants (PVs) in succinate dehydrogenase (SDHx) genes via PubMed, PsychInfo, and Embase. Study quality was assessed using the CASP and STROBE appraisal tools. In total, 36 studies were found with fluctuating levels of evidence, of which five included pediatric patients. Overall, studies showed a considerable impact of ETSs on psychosocial outcomes such as quality of life (QoL), anxiety, and depression. Maladaptive coping, as well as social and financial restraints, were associated with poorer psychosocial outcomes. Surveillance protocols had ambivalent effects, both creating a sense of control and serving as a constant reminder of having an ETS. Parathyroid disease was associated with adverse psychosocial effects in MEN1. In MEN2A, gastrointestinal symptoms and having affected offspring were associated with poorer psychosocial outcomes. In MEN2B, pain was reported to interfere with daily life. Studies regarding VHL reported a wide range of experiences in patients and family members. Only a few studies were found for patients with PVs in SDHx genes, mainly describing effects due to the manifestation of disease or paraganglioma. Psychosocial outcomes and possible underlying factors seem different for each ETS. More research is needed to address psychosocial outcomes in children with an ETS.
Pancreatic Involvement in von Hippel Lindau Disease: A Single-Center Experience.
Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.
Von Hippel-Lindau disease (vHL) predisposes to tumor development, mainly clear cell renal carcinoma and hemangioblastoma. The underlying cause is germline variants in the VHL gene, with tumorigenesis thought to require additional somatic 'second-hit' events that most commonly include loss of 3p. However, the precise mechanisms of vHL-related tumor development remain incompletely understood. Genomic investigations of familial hemangioblastoma may help elucidate the early steps of tumorigenesis and contribute to improved disease prediction, biomarker discovery, and therapeutic strategies. We performed whole exome sequencing on 22 familial hemangioblastomas from 7 patients representing 5 unrelated families, and with 4 different causative VHL genotypes. The tumors exhibited low overall mutational burden but showed frequent loss of heterozygosity on chromosome 3 or 3p and single nucleotide variants in the VHL region. Variants were significantly enriched in genes associated with GABAergic and serotonergic neuronal cell types, as well as in pathways regulating cell cycle and neurogenesis. These findings suggest that, in addition to VHL loss, dysregulation of neuronal differentiation programs and cell cycle control may play important roles in hemangioblastoma tumorigenesis.
[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
We report the case of a 52-year-old man with Von Hippel-Lindau disease who had been receiving nocturnal home hemodialysis for ten months following bilateral nephrectomy for multifocal clear cell renal carcinoma. He presented with a firm, painless subcutaneous nodule on the right anterior thigh, featuring a central crater filled with chalky-white material. Skin biopsy revealed dermal calcium deposits surrounded by a fibrous and histiocytic reaction, consistent with dystrophic calcinosis cutis. Additional nodules were palpable on the left calf and right biceps. Bilateral femur X-rays were normal. Persistent hyperphosphatemia and inadequate dialysis likely contributed to the development of these extraosseous calcifications. Management included intensification of phosphate binder therapy and increased dialysis frequency. This case illustrates the potential interplay between hereditary tumor syndromes and dialysis-related mineral metabolism disorders, highlighting the risk of severe extraosseous calcifications in such patients. Nous rapportons le cas d’un homme de 52 ans atteint de la maladie de Von Hippel-Lindau, traité par hémodialyse nocturne à domicile depuis dix mois, après néphrectomie bilatérale pour carcinome rénal à cellules claires multifocal. Il signale l’apparition d’un nodule sous-cutané ferme et indolore de la cuisse droite, avec un cratère central rempli de matériel blanchâtre. La biopsie cutanée a révélé des dépôts calciques dermiques entourés d’une réaction fibreuse et histiocytaire, compatible avec une calcinose cutanée dystrophique. D’autres nodules suspects étaient palpables sur le mollet gauche et le biceps droit. La radiographie des fémurs était normale. L’hyperphosphatémie persistante et un contexte de dialyse insuffisante ont probablement contribué à la survenue de ces calcifications extra-osseuses. L’intensification du traitement chélateur du phosphate et une augmentation de la fréquence des séances d’hémodialyse ont été mises en œuvre. Ce cas illustre l’interaction potentielle entre pathologies tumorales héréditaires et troubles phosphocalciques liés à la dialyse.
Publicações recentes
5' UTR length shapes alternative N-terminal protein isoforms across cancers and in rare disease.
Belzutifan Efficacy in Von Hippel-Lindau Disease-Associated Renal Cell Carcinoma Versus Natural History Control Arm.
Gastric Neuroendocrine Tumor Presenting Atypically in von Hippel-Lindau Disease: A Case Report.
Atypical, Clinically Silent, Locally Advanced Pheochromocytoma Revealing Von Hippel-Lindau Type 2C Phenotype: A Case Report.
🥈 Ensaio clínicoVery rapid response to belzutifan of VHL-related intracranial and retinal hemangioblastomas.
📚 EuropePMC1.449 artigos no totalmostrando 196
Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.
Molecular oncology[Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
Nephrologie & therapeutiqueNeurogenetic tumor syndromes: The current landscape of workup and treatment.
Neuro-oncology practice"I don't think I even thought of myself" A mixed-methods study of family experiences of trio germline whole genome sequencing in newly diagnosed childhood cancer.
British journal of cancerBilateral multifocal renal neuroendocrine carcinoma with synchronous pancreatic neuroendocrine carcinoma and adrenal lesion.
Journal of surgical case reportsPancreatic Involvement in von Hippel Lindau Disease: A Single-Center Experience.
JGH open : an open access journal of gastroenterology and hepatologyCancer predisposition syndromes: an imaging review.
Cancer imaging : the official publication of the International Cancer Imaging Society5' UTR length regulates alternative N-terminal protein isoform production in health and disease.
bioRxiv : the preprint server for biology[A Family case of von Hippel-Lindau syndrome].
Problemy endokrinologiiPersistent Hypercalcemia: Diagnostic Complexity With Multiglandular Hyperparathyroidism, Renal Cell Carcinoma, and Hereditary Tumor Features.
CureusHereditary Renal Cancer Syndromes: Clinicopathologic Features and Correlation With Tumors Harboring Somatic Mutations.
Advances in anatomic pathologyExploring the Illness Experience of Patients with Central Nervous System Hemangioblastomas in Von Hippel-Lindau Disease: A Qualitative Study.
Healthcare (Basel, Switzerland)Bilateral pheochromocytomas with locally advanced right adrenal tumor extending into the inferior vena cava in a suspected Von Hippel-Lindau syndrome: A case report.
Urology case reportsFirst-in-class HIF-2α therapy in genitourinary oncology: Belzutifan from von Hippel-Lindau disease to advanced renal cell carcinoma.
Cancer chemotherapy and pharmacologyWhole-Genome Landscape of Retinal Hemangioblastomas.
Translational vision science & technologyExpanding the clinical tumor phenotype of the EPAS1-asssociated tumor syndrome.
The Journal of clinical endocrinology and metabolismHereditary renal cell carcinoma surveillance protocols: a review of the literature and proposed recommendations.
Familial cancerDistinct genomic, microenvironmental, and nephron signatures in VHL kidney cysts and tumors.
Scientific reportsThe European medicines agency review of belzutifan (Welireg) for the treatment of adult patients with von Hippel-Lindau disease-associated tumors.
The oncologistPsychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
Pediatric blood & cancerRole of Targeted Therapy in the Management of von Hippel-Lindau Disease-Associated Renal Cell Carcinoma: A Single-Proportion Meta-Analysis.
Cureus[Chinese expert consensus for the diagnosis and treatment of von Hippel-Lindau syndrome (2025 edition)].
Zhonghua yi xue za zhiPrecision Care for Hereditary Urologic Cancers: Genetic Testing, Counseling, Surveillance, and Therapeutic Implications.
Current oncology (Toronto, Ont.)Integrating whole-exome sequencing and scRNA-seq reveal the characteristic in one clear cell renal cell carcinoma sample arising in the setting of VHL disease.
Scientific reportsAnesthetic Management of a Cesarean Section in a Parturient With Von Hippel-Lindau Disease.
CureusBelzutifan for Ocular Tumors in Patients with von Hippel-Lindau Disease.
Ocular oncology and pathologyPrognostic relevance of MIB-1 labeling index in VHL-associated and sporadic spinal hemangioblastomas: a subgroup analysis from a multicentric study.
Acta neuropathologica communicationsPercutaneous Cryoablation With Lipiodol Marking for Hereditary Renal Cell Carcinomas: Cancer Control and Renal Functional Outcomes.
International journal of urology : official journal of the Japanese Urological AssociationDysregulation of the ubiquitin-proteasome system in von Hippel-Lindau syndrome: molecular insights and clinical perspectives.
Clinical and experimental medicineFrom surgery to systemic therapy in von Hippel-Lindau disease: insights from extended follow-up of LITESPARK-004.
Translational andrology and urologyFrom surgery to systemic therapy: long-term lessons of belzutifan in von Hippel-Lindau disease.
Translational andrology and urologyAdrenergic Storm with Obstructive Hydrocephalus: Atypical Neurological Presentation of Von Hippel-Lindau Disease with Bilateral Pheochromocytoma in an Adolescent.
Journal of the ASEAN Federation of Endocrine SocietiesNear-infrared carbon dots enable ultra-sensitive fluorometric detection of belzutifan: a novel approach for real-time therapeutic drug monitoring in cancer treatment.
Analytical methods : advancing methods and applicationsFamilial Von Hippel-Lindau Disease: A Case Series of Cerebral Hemangioblastomas with MRI, Histopathological, and Genetic Correlations.
Life (Basel, Switzerland)Von Hippel-Lindau Disease-Associated Endolymphatic Sac Tumours: Seven Cases and Genotype-Phenotype Features.
Current oncology (Toronto, Ont.)Genetic Testing and Counselling for Hereditary Renal Carcinoma: What Do Clinicians Need to Know?
European urology open scienceClinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryRe: W. Marston Linehan, Cathy Anne Pinto, Yanfang Liu, et al. Longitudinal Evaluation of Clear-cell Renal Cell Carcinoma in von Hippel-Lindau Disease. Eur Urol 2025;88:56-63.
European urologyThe truth behind multiple neuroendocrine tumors: Von Hippel-Lindau syndrome and its diagnostic challenges-A case report and literature review.
Science progressStereotactic radiosurgery as adjuvant or salvage treatment for sporadic hemangioblastomas: A multi-center international study.
Journal of the neurological sciencesIntra- and inter-tumoural heterogeneity in von Hippel-Lindau disease-related renal cancer: a multimodal data study protocol.
European radiology experimentalLong-term HIF-2α inhibition in von Hippel-Lindau disease: insights from LITESPARK-004.
Translational andrology and urologyMultigenerational VHL family characterized by pathogenic germline ELOC variant: Response to belzutifan.
Urologic oncologyTypes of pancreatic lesions and the mutational landscape of the VHL gene in patients with von Hippel-Lindau disease.
Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.]Identification of a VHL germline deletion in a family with Von Hippel-Lindau syndrome using MLPA-NGS.
BMC medical genomicsAll-in-One Case: Comprehensive Detection of VHL Syndrome With 68 Ga-DOTATATE PET/CT.
Clinical nuclear medicineBelzutifan for patients with Von Hippel-Lindau (VHL) disease-associated heterogeneous tumors - a retrospective single center analysis.
BMC cancerBRCA1-, BRCA2-, and PALB2-related Fanconi anemia: Scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
American journal of human genetics[Cystic-solid transformation of the pancreas and kidneys due to von Hippel-Lindau disease].
KhirurgiiaCanine Hemangioblastoma: Case Series and Literature Review.
Animals : an open access journal from MDPIComputed tomography-guided radiofrequency ablation of pheochromocytomas in a small case series with von Hippel-Lindau disease: treatment safety and outcomes.
Abdominal radiology (New York)Multisystemic Presentation of Von Hippel-Lindau Disease Revealed by Pheochromocytoma and Takotsubo Syndrome.
JACC. Case reportsFirst-in-class oral hypoxia-inducible factor 2α in von Hippel-Lindau disease: a new era of targeted therapy.
Polish archives of internal medicineUpdated 2025 French guidelines for renal cell carcinoma.
The French journal of urologyHIFα isoform specific activities drive cell-type specificity of VHL-associated oncogenesis.
Nature communicationsGross total resection is associated with improvement and prognosis even in von Hippel-Lindau disease-related hemangioblastomas: Nationwide registry in Japan.
Neuro-oncology practiceCollision of Retinitis Pigmentosa and Von-Hippel Lindau Disease.
American journal of ophthalmologyLaparoscopic Left Hepatectomy for Slowly Progressing Primary Hepatic Carcinosarcoma Associated With Von Hippel-Lindau Disease.
Asian journal of endoscopic surgeryUnraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing.
American journal of human geneticsRole of PPV in Advanced Retinal Hemangioblastoma-A Systematic Review.
International ophthalmology clinicsQuantitative analysis of the anti-VEGF effect for retinal capillary hemangiomas and vasoproliferative tumors.
European journal of ophthalmologyThe gradual expansion of multiple intramedullary metastatic renal cell carcinoma in a patient with von Hippel-Lindau disease with multiple intramedullary hemangioblastomas: illustrative case.
Journal of neurosurgery. Case lessonsMathematical modeling and simulation of tumor-induced angiogenesis in retinal hemangioblastoma.
PLoS computational biologyPancreatic Hemangioblastoma in a Patient with von Hippel-Lindau Disease: A Case Report.
Surgical case reportsThe safety profile of belzutifan in renal tumors: real-world data from a tertiary academic center.
The oncologistPancreatic Involvement by Mixed Serous Neuroendocrine Neoplasm Detected by Endosonography With Fine-Needle Tissue Acquisition in Von Hippel-Lindau Disease.
CureusImpact of Belzutifan on Pancreatic Cystic Lesions and Neuroendocrine Tumors in Patients With Von Hippel-Lindau Disease.
Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological AssociationPresentation, management, and clinical outcomes of von Hippel-Lindau syndrome.
Hong Kong medical journal = Xianggang yi xue za zhiSynchronous giant bilateral renal tumors as initial presentation of Von Hippel-Lindau disease: Sequential surgical management and transition to renal replacement therapy.
Urology case reportsUnclassified Renal Cell Carcinoma with Reverse Polarity and Pathogenic von Hippel-Lindau Mutation in a Congenital Renal Malformation.
International journal of surgical pathologyBelzutifan-Associated Hypoxia: A Review of the Novel Therapeutic, Proposed Mechanisms of Hypoxia, and Management Recommendations.
International journal of molecular sciencesThe impact of surgery on patients with Von Hippel-Lindau-associated tumors: an international patient survey.
The oncologistQuantification of Belzutifan in Biological Samples: LC-MS/MS Method Validation and Pharmacokinetic Study in Rats.
Biomedical chromatography : BMCProteomic characterization of the pseudocapsule of clear cell renal cell carcinoma in VHL disease reveals a distinct microenvironment at the tumor boundary zone.
Neoplasia (New York, N.Y.)Von Hippel-Lindau Disease.
Advances in experimental medicine and biologyTumor-to-Tumor Metastasis in a Patient With Hemangioblastoma Unrelated to von Hippel-Lindau Disease: A Case Report and Review of the Literature.
CureusClinical, Pathologic, and Genetic Correlates of Nuclear Grade in von Hippel-Lindau-associated Renal Cell Carcinoma.
UrologyDetection of VHL variant on multigene panel testing for hereditary breast cancer: Implications for genetic counselling.
Cancer geneticsIncidental Discovery of Synchronous Ileal Neuroendocrine Tumors at Fluorodopa PET/CT in a Patient With Bilateral Pheochromocytoma.
Clinical nuclear medicinePMDA regulatory update on approval and revision of the precautions for use of anticancer drugs in Japan; nivolumab plus ipilimumab for hepatocellular carcinoma, fedratinib for myelofibrosis, talquetamab for multiple myeloma, and belzutifan for tumors associated with von Hippel-Lindau disease and renal cell carcinoma.
International journal of clinical oncologyAnesthetic challenges in a pregnant patient with Von Hippel-Lindau disease: A case report.
Saudi journal of anaesthesiaCase report: Nephrotic syndrome induced by Lenvatinib treatment in a patient with von Hippel-Lindau syndrome.
BMC nephrologyPapillary endolymphatic sac tumor: Case report with clinical study and therapeutic management.
International journal of surgery case reportsReal-world challenges and considerations in treating von Hippel-Lindau disease with HIF-2α inhibitors - Authors' reply.
The Lancet. OncologyReal-world challenges and considerations in treating von Hippel-Lindau disease with HIF-2α inhibitors.
The Lancet. OncologyAnalysis of BRCA1, BRCA2 and PALB2 related Fanconi anemia identifies scope to expand disease phenotypic features and predict breast cancer risk in heterozygotes.
medRxiv : the preprint server for health sciencesBilateral Pheochromocytoma in a Child Revealing Von Hippel-Lindau Disease.
CureusVon Hippel-Lindau disease caused obstructive jaundice.
Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the LiverOutcomes After Stereotactic Radiosurgery for Intracranial Hemangioblastoma in Von Hippel-Lindau Disease and Sporadic Cases: An International Multicenter Study.
NeurosurgeryCorrigendum to "Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance" by Jung et al. (J Korean Neurosurg Soc 68 : 338-349, 2025).
Journal of Korean Neurosurgical SocietyWhen is belzutifan the right option for von Hippel-Lindau disease-associated hemangioblastomas?-a critical review of LITESPARK-004 results.
Translational cancer researchLeptomeningeal hemangioblastoma: illustrative case.
Journal of neurosurgery. Case lessonsA real-world pharmacovigilance study of belzutifan in renal cell carcinoma and von Hippel-Lindau disease: insights from the FDA adverse event reporting system database.
International journal of clinical pharmacyGenotype-phenotype correlation in Iranian retinal hemangioblastoma patients and genetic diagnosis algorithm for Von Hippel-Lindau disease.
Ophthalmic geneticsBilateral simultaneous laparoscopic clipless adrenal-sparing surgery for pheochromocytoma in a pediatric patient: A case report.
Urology case reportsCRISPR/Cas9-mediated editing of VHL in induced pluripotent stem cells: A model for early cell fate in von Hippel-Lindau syndrome.
Stem cell researchPseudohypoxia caused by germline genetic alterations in the VHL gene is associated with increased diabetes and cardiovascular risk: a UK biobank study.
Cardiovascular diabetologyUnilateral Pheochromocytoma in Von Hippel-Lindau Syndrome Revealed by a Hemangioblastoma.
Kathmandu University medical journal (KUMJ)Dual Inhibition of HIF-1α and HIF-2α as a Promising Treatment for VHL-Associated Hemangioblastomas: A Pilot Study Using Patient-Derived Primary Cell Cultures.
BiomedicinesBilateral Pheochromocytoma with a Novel Pathogenic Variant in the MAX gene: A Case Report.
Journal of the ASEAN Federation of Endocrine SocietiesSpinal Hemangioblastoma: The Role of Imaging Characteristics in Preoperative Diagnosis and Surgical Planning.
CureusFibroblast growth factor receptor expression in hemangioblastomas: A novel therapeutic target.
PloS oneFatal intracranial haemorrhage shortly after belzutifan initiation in von Hippel-Lindau (VHL) disease-associated haemangioblastoma.
ESMO openWhen Evidence Falls Short-Belzutifan for Treating Tumours Associated with von Hippel-Lindau Disease: An External Assessment Group Perspective on a NICE Single Technology Appraisal.
PharmacoEconomicsDisease Monitoring and Treatment Patterns of von Hippel-Lindau Disease-Associated Renal Cell Carcinoma in the United States.
Clinical genitourinary cancerPediatric and adolescent von Hippel-Lindau disease: tumor profiles, genotype-phenotype correlation and comparison with adults.
Journal of endocrinological investigationLongitudinal Evaluation of Clear-cell Renal Cell Carcinoma in von Hippel-Lindau Disease.
European urologyGenetics and current research models of Mendelian tumor predisposition syndromes with ocular involvement.
Progress in retinal and eye research[Clinical characterization in patients with neurocutaneous syndrome].
Revista medica del Instituto Mexicano del Seguro SocialNovel OCT Angiography Features, von Hippel-Lindau Disease Association, and Genetic Characterization of Juxtapapillary Retinal Capillary Hemangiomas.
Investigative ophthalmology & visual scienceUpdate on Surveillance in Von Hippel-Lindau Disease.
Clinical cancer research : an official journal of the American Association for Cancer ResearchBelzutifan for von Hippel-Lindau disease-associated renal cell carcinoma and other neoplasms (LITESPARK-004): 50 months follow-up from a single-arm, phase 2 study.
The Lancet. OncologyBelzutifan in von Hippel-Lindau disease.
The Lancet. OncologyRetinal vascular proliferation with fibrotic regression in von Hippel-Lindau disease.
Taiwan journal of ophthalmologyA Corticotropin-Secreting Adenoma in the Setting of von Hippel-Lindau Disease.
JCEM case reportsGenotype-specific neoplastic risk profiles in patients with VHL disease.
Endocrine-related cancerEmerging Paradigms in Genitourinary Cancers: Integrating Molecular Imaging, Hypoxia-Inducible Factor-Targeted Therapies, and Antibody-Drug Conjugates in Renal Cell and Urothelial Carcinomas.
American Society of Clinical Oncology educational book. American Society of Clinical Oncology. Annual MeetingBilateral papillary cystadenoma of the broad ligament: a manifestation of Von Hippel-Lindau disease: a case report.
Journal of medical case reportsUrinary leak after partial nephrectomy: Insights from a cohort with hereditary, multifocal, and reoperative cases.
Urologic oncologyPancreatic neuroendocrine neoplasms (pNENs): Genetic and environmental biomarkers for risk of occurrence and prognosis.
Seminars in cancer biologyFactors that predict progression of von Hippel-Lindau disease-related malignancy: a longitudinal cohort study.
BMC cancerVery early-onset symptomatic CNS haemangioblastoma in Von Hippel-Lindau disease.
Journal of medical geneticsMosaic Form of von Hippel-Lindau Syndrome: Case Report and Literature Review.
International journal of molecular sciencesResection of a Cervical Spine Hemangioblastoma in Von Hippel-Lindau Disease: 2-Dimensional Operative Video.
Operative neurosurgery (Hagerstown, Md.)Von Hippel-Lindau Disease : A Comprehensive Review of Diagnosis, Genetics, Clinical Challenges, and Surveillance.
Journal of Korean Neurosurgical SocietyPancreatic Serous Neoplasm and Metastatic Clear Cell Renal Cell Carcinoma: Diagnostic Pitfalls Resolvable by a Panel of Immunohistochemical Stains to Include PAX8 and CK7 But Not CAIX.
The American journal of surgical pathologyStereotactic radiosurgery in the management of central nervous system hemangioblastomas: a systematic review and meta-analysis.
Neurosurgical reviewCharacterization of the Pheochromocytoma-Predominant Subgroup of von Hippel-Lindau Disease.
UrologyRecanalization and interventional stenting of a closed ductus arteriosus in pulmonary hypertension associated with von Hippel-Lindau disease: a case report.
Cardiology in the young"Incidentally" discovered Von Hippel Lindau disease: an emerging clinical phenotype.
The oncologistVon Hippel-Lindau syndrome with bilateral renal and an interaortocaval mass.
BMJ case reportsVon Hippel-Lindau syndrome: clinical features, genetic foundations, and management strategies.
Molecular biology reportsFirst Single-Centre Experience with the Novel HIF-α Inhibitor Belzutifan in Switzerland.
Current oncology (Toronto, Ont.)Vasoproliferative Retinal Tumors: Manifestations, Management, and Outcomes in a Case Series.
Case reports in ophthalmologyDelivering Trio Germline Whole Genome Sequencing to Patients Newly Diagnosed With Childhood Cancer: Healthcare Professionals' Perspectives of the PREDICT Study.
Cancer medicineLocal tumor control and neurological outcomes after surgery for spinal hemangioblastomas in sporadic and von Hippel-Lindau disease: A multicenter study.
Neuro-oncologyPathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease.
Archives of endocrinology and metabolism[Retinal vasoproliferative tumor (retinal reactive astrocytic tumor)].
Journal francais d'ophtalmologieA New Era of Management of Von Hippel-Lindau Disease-Associated Tumors With Belzutifan.
Clinical journal of oncology nursingMorphology of Retinal Hemangioblastoma in von Hippel-Lindau Disease Revealed by Optical Coherence Tomography Angiography.
Klinische Monatsblatter fur AugenheilkundeLaparoscopic Partial Nephrectomy for Multiple Complex Renal Masses in a Patient With Von Hippel-Lindau Syndrome: A Case Report.
CureusTherapeutic Dilemma of a Juxtapapillary Retinal Capillary Hemangioma.
CureusCase report: Endolymphatic sac tumor with blurred vision.
Frontiers in oncologyRelationship between ZHX2 Expression and VHL Gene Alteration in VHL-associated and Sporadic Hemangioblastomas of the Central Nervous System.
Journal of kidney cancer and VHLLong-term surgical outcomes and prognosis of cervical spinal hemangioblastomas.
Clinical neurology and neurosurgeryEvaluation of Tumor-Infiltrating Leukocytes in Endolymphatic Sac Tumor.
The LaryngoscopeOral Herpes Simplex Virus Mimicking Tongue Squamous cell Carcinoma in Von Hippel-Lindau Patient: A Case Image.
Head and neck pathologyNew Developments in VHL-Associated Neuroendocrine Neoplasms.
Current oncology reportsBelzutifan as the Primary Treatment of Bilateral Juxtapapillary Retinal Hemangioblastoma in a Patient With Von Hippel-Lindau Disease.
Journal of vitreoretinal diseasesPheochromocytoma in von Hippel-Lindau Disease: Clinical Features and Comparison With Sporadic Pheochromocytoma.
Clinical endocrinologyGenetic syndromes associated with pancreatic neuroendocrine neoplasms and imaging diagnostic strategies.
Abdominal radiology (New York)Is the TriNetX Database a Good Tool for Investigation of Real-World Management of Von Hippel-Lindau?
Journal of kidney cancer and VHL[Diagnostic and therapeutic perspectives in RASopathies].
Magyar onkologia[Stereotactic radiotherapy of spinal hemangioblastoma].
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoCase study of a potential West Polynesian variant of von Hippel-Lindau disease.
The New Zealand medical journalGeneration of TWO iPSC lines (CRICKi009-A; CRICKi010-A) from patients with type 1 von Hippel-Lindau (VHL) and histopathologically confirmed renal cell carcinoma (RCC).
Stem cell researchSurgical Management and Prognostic Factors for Endolymphatic Sac Tumor: A Single-Institute Experience with a Systematic Review.
World neurosurgeryVon Hippel-Lindau disease with ocular and multiple systemic findings.
BMJ case reportsSpinal cord hemangioblastomas in von Hippel-Lindau disease.
Neuro-oncology advancesCurrent views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma.
Best practice & research. Clinical endocrinology & metabolismComparative analysis of stereotactic radiosurgery outcomes for supratentorial hemangioblastomas in von hippel-lindau disease and sporadic cases: A multi-center international study.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPediatric patients with von Hippel-Lindau and hemangioblastomas treated successfully with belzutifan.
Pediatric blood & cancerMultisystem diseases in the abdomen and pelvis: imaging manifestations and diagnostic roles of cross-sectional imaging.
Abdominal radiology (New York)Follow-up report on pulmonary mucosa-associated lymphoma in a patient with von Hippel-Lindau disease.
Journal of surgical case reportsGenotype-phenotype correlation of ocular von Hippel-Lindau disease in Koreans.
PloS oneFamilial and early recurrent pheochromocytoma in a child with a novel in-frame duplication variant of VHL.
Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric EndocrinologyUnique properties of clinical manifestation and magnetic resonance imaging for differential diagnosis of optic nerve hemangioblastoma.
Eye (London, England)Application of carbonic anhydrase IX in sporadic hemangioblastoma of the central nervous system and hemangioblastoma associated with von Hippel-Lindau disease.
Clinical neuropathologyPhenotypic and Genotypic Features of a Chinese Cohort with Retinal Hemangioblastoma.
GenesTotal loss of VHL gene function impairs neuroendocrine cancer cell fitness due to excessive HIF2α activity.
Proceedings of the National Academy of Sciences of the United States of AmericaA novel pathogenic germline chromosome 3 inversion in von Hippel-Lindau disease.
Journal of medical geneticsHereditary Pheochromocytoma as a Main Manifestation of von Hippel Lindau Disease (vHL) in Childhood - A Long-term Follow-up of 5 Patients with vHL from One Family.
Journal of clinical research in pediatric endocrinologyBelzutifan Efficacy and Tolerability in Patients with Sporadic Metastatic Clear Cell Renal Cell Carcinoma.
European urology focusBelzutifan for patients with von Hippel-Lindau disease-associated CNS haemangioblastomas (LITESPARK-004): a multicentre, single-arm, phase 2 study.
The Lancet. OncologyGenetics, Pathophysiology, and Current Challenges in Von Hippel-Lindau Disease Therapeutics.
Diagnostics (Basel, Switzerland)Belzutifan in Individuals with von Hippel-Lindau Retinal Hemangioblastomas: Institutional Experience and Review of the Literature.
Ocular oncology and pathologyAdvances in Molecular Mechanisms of Kidney Disease: Integrating Renal Tumorigenesis of Hereditary Cancer Syndrome.
International journal of molecular sciencesClear Cell Renal Cell Carcinoma: Characterizing the Phenotype of Von Hippel-Lindau Mutation Using MRI.
Journal of magnetic resonance imaging : JMRIEndolymphatic Sac Tumors Associated With von Hippel-Lindau: A Case Report Highlighting Opportunity for Novel Orphan Drug Therapy.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyUnusual Presentation of Von Hippel-Lindau Syndrome With Gastric Variceal Bleeding.
CureusThe genetic differences between types 1 and 2 in von Hippel-Lindau syndrome: comprehensive meta-analysis.
BMC ophthalmologyUnderstanding Adult Central Nervous System Hemangioblastomas: A Systematic Review.
World neurosurgeryThe rare diagnosis of Von Hippel-Lindau disease in a 29-year-old patient.
Oman journal of ophthalmologyInnovative solutions? Belzutifan therapy for hemangioblastomas in Von Hippel-Lindau disease: A systematic review and single-arm meta-analysis.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaClinical T1a Renal Cell Carcinoma with Solitary Diaphragmatic Metastasis in a Patient with von Hippel-Lindau Disease.
Journal of kidney cancer and VHLNeurosurgical Implications of Targeting Hypoxia-Inducible Factor 2α in Hemangioblastomas with Belzutifan.
World neurosurgeryTrigeminal nerve hemangioblastoma in the setting of undiagnosed von Hippel-Lindau disease: illustrative case.
Journal of neurosurgery. Case lessonsEvaluating the Urinary Exosome microRNA Profile of von Hippel Lindau Syndrome Patients with Clear Cell Renal Cell Carcinoma.
GenesOptic nerve and chiasm hemangioblastomas in von Hippel-Lindau disease: report of 12 cases and review of the literature.
Frontiers in oncologyPortal Venous Thrombosis after Percutaneous Cryoablation for Renal Cell Carcinoma.
Journal of kidney cancer and VHLSingle Stage Bilateral Adrenalectomy (Cortical-Sparing) and Pancreatectomy (Corpus-Sparing) in a Patient with Von Hippel-Lindau Disease.
Sisli Etfal Hastanesi tip bulteniOptical Coherence Tomography Angiography-Navigated Laser Photocoagulation of Retinal Hemangioblastomas in Patients With von Hippel-Lindau Disease.
Translational vision science & technologyvon Hippel-Lindau Syndrome and Secondary Hypertension: A Case Report.
CureusCauda equina myxopapillary ependymoma in von Hippel-Lindau disease: A case report.
Surgical neurology internationalCharacterization of spinal hemangioblastomas in patients with and without von Hippel-Lindau, and YAP expression.
Revista espanola de patologia : publicacion oficial de la Sociedad Espanola de Anatomia Patologica y de la Sociedad Espanola de CitologiaComprehensive treatment of von Hippel-Lindau disease: A case report.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Whole-Genome Landscape of Retinal Hemangioblastomas.
- Psychosocial Outcomes in Patients With Endocrine Tumor Syndromes: A Systematic Review.
- Pancreatic Involvement in von Hippel Lindau Disease: A Single-Center Experience.JGH open : an open access journal of gastroenterology and hepatology· 2026· PMID 41709978mais citado
- Somatic mutational landscape in von Hippel-Lindau familial hemangioblastoma.
- [Calcinosis cutis in a hemodialysis patient with Von Hippel-Lindau disease].
- 5' UTR length shapes alternative N-terminal protein isoforms across cancers and in rare disease.
- Belzutifan Efficacy in Von Hippel-Lindau Disease-Associated Renal Cell Carcinoma Versus Natural History Control Arm.
- Gastric Neuroendocrine Tumor Presenting Atypically in von Hippel-Lindau Disease: A Case Report.
- Atypical, Clinically Silent, Locally Advanced Pheochromocytoma Revealing Von Hippel-Lindau Type 2C Phenotype: A Case Report.
- Very rapid response to belzutifan of VHL-related intracranial and retinal hemangioblastomas.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:892(Orphanet)
- OMIM OMIM:193300(OMIM)
- MONDO:0008667(MONDO)
- GARD:7855(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q741315(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
