{"orpha":892,"name":"Von Hippel-Lindau disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial cerebelloretinal angiomatosis","Lindau disease","VHL","Von Hippel-Lindau syndrome"],"definition":"A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-892/","orphanet_url":"https://www.orpha.net/en/disease/detail/892","names":{"fr":{"name":"Maladie de von Hippel-Lindau","synonyms":["Angiomatose cérébellorétinienne de von Hippel-Lindau","Angiomatose cérébellorétinienne familiale","Angiomatose rétinocérébelleuse de von Hippel-Lindau","Maladie de Lindau","VHL"],"definition":"Syndrome familial avec prédisposition aux cancers associé à une variété de tumeurs malignes et bénignes, le plus souvent des hémangioblastomes rétiniens, cérébelleux et spinaux, des carcinomes à cellules rénales (CCR) et des phéochromocytomes/paragangliomes."},"de":{"name":"Von-Hippel-Lindau-Krankheit","synonyms":["Retino-zerebelläre Angiomatose, familiäre","VHL","Von-Hippel-Lindau-Syndrom"],"definition":"Ein familiäres Krebsprädispositionssyndrom, das mit einer Vielzahl verschiedener maligner und benigner Neoplasmen einhergeht, am häufigsten retinale, zerebelläre und spinale, Hämangioblastome, Nierenzellkarzinome (RCC) und Phäochromozytome."},"es":{"name":"Enfermedad de Von Hippel-Lindau","synonyms":["Angiomatosis cerebelo-retiniana familiar","Angiomatosis cerebelorretiniana familiar","Enfermedad de Lindau","Síndrome de Von Hippel-Lindau","VHL"],"definition":"Es un síndrome de predisposición familiar al cáncer asociado a una variedad de neoplasias malignas y benignas, con mayor frecuencia hemangioblastoma retiniano, cerebeloso y espinal, carcinoma de células renales (CCR) y feocromocitoma/ paraganglioma."},"it":{"name":"Malattia di von Hippel-Lindau","synonyms":["Angiomatosi cerebello-retinica familiare","Angiomatosi cerebelloretinica familiare","Malattia di Hippel-Lindau","Malattia di Lindau","Sindrome di von Hippel-Lindau","VHL"],"definition":"La malattia di Von Hippel-Lindau (VHL) è una sindrome con predisposizione familiare al cancro, legata a neoplasie benigne e maligne, come gli emangioblastomi della retina, del cervelletto e del midollo spinale, il carcinoma delle cellule renali (RCC) e il feocromocitoma."},"nl":{"name":"Ziekte van von Hippel-Lindau","synonyms":["Familiale cerebello-retinale angiomatose","Syndroom van von Hippel-Lindau","VHL","Ziekte van Lindau"],"definition":"Een familiaal kankerpredispositiesyndroom, geassocieerd met ene waaier van maligne en benigne neoplasmata, meestal retinaal, cerebellair, en spinaal hemangioblastoom, niercelcarcinoom (RCC), en feochromocytoom/paraganglioom."},"pt":{"name":"Doença de von Hippel-Lindau","definition":"Síndrome de predisposição familiar para cancro associada a uma variedade de neoplasias malignas e benignas, mais frequentemente hemangioblastoma retiniano, cerebeloso e espinal, carcinoma de células renais (CCR) e feocromocitoma/paraganglioma."},"pl":{"name":"Choroba von Hippel'a i Lindau'a","synonyms":["Choroba Hippel'a i Lindau'a","Choroba Lindau'a","Rodzinna naczyniakowatość siatkówkowo-móżdżkowa","VHL","Zespół von Hippel'a i Lindau'a"],"definition":"Choroba von Hippela i Lindau’a (VHL) to zespół rodzinnej predyspozycji do nowotworów związany z różnego rodzaju złośliwymi i łagodnymi guzami, najczęściej siatkówki, móżdżku oraz naczyniakiem zarodkowym rdzenia, rakiem nerkowokomórkowym (RCC) i guzem chromochłonnym."},"cs":{"name":"Von Hippelova-Lindauova choroba","synonyms":["Familiární cerebeloretinální angiomatóza","Lindauova nemoc","VHL","Von Hippelův-Lindauův syndrom","Von Hippel-Lindauova choroba","Von Hippel-Lindauův syndrom"]},"uk":{"name":"Хвороба фон Гіппеля-Ліндау","synonyms":["Сімейний мозочково-сітківковий ангіоматоз","Хвороба Ліндау","VHL","Синдром фон Гіппеля-Ліндау"],"definition":"A familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma/paraganglioma."},"zh":{"name":"Von Hippel-Lindau病","synonyms":["家族性小脑视网膜血管瘤病"]},"tr":{"name":"Von Hippel-Lindau hastalığı","synonyms":["VHL","Lindau hastalığı","Von Hippel-Lindau sendromu","Ailesel serebelloretinal anjiyomatoz"]}},"xrefs":[{"source":"OMIM","code":"193300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"Q85.8","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5A75","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1985408165"},{"source":"MONDO","code":"0008667","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D006623","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0019562","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7855","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10047716","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":100091,"name":"Adrenal/paraganglial tumor","classifications":[193,202]},{"orpha":183503,"name":"Genetic central nervous system and retinal vascular disease","classifications":[156]},{"orpha":93587,"name":"Genetic cystic renal disease","classifications":[156,188]},{"orpha":252190,"name":"Inherited nervous system cancer-predisposing syndrome","classifications":[181]},{"orpha":319328,"name":"Inherited renal cancer-predisposing syndrome","classifications":[156,188,202]},{"orpha":98196,"name":"Malformation syndrome with hamartosis","classifications":[147,156]},{"orpha":100094,"name":"Multiple polyglandular tumor","classifications":[156,193,202]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":98638,"name":"Rare disease with glaucoma as a major feature","classifications":[156,189]},{"orpha":156162,"name":"Renal ciliopathy","classifications":[156]}],"children":[],"genes":[{"symbol":"VHL","name":"von Hippel-Lindau tumor suppressor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":null,"hgnc":"12687","ensembl":"ENSG00000134086","omim":"608537","loci":["3p25.3"]},{"symbol":"CCND1","name":"cyclin D1","gene_type":"gene with protein product","association":"Modifying germline mutation in","status":"Assessed","source":"12097293[PMID]","hgnc":"1582","ensembl":"ENSG00000110092","omim":"168461","loci":["11q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"United Kingdom","status":"Validated","source":"20082463[PMID]_[EXPERT]"},{"type":"Point prevalence","qualification":"Class only","class":"1-9 / 100 000","value":0.0,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.13,"area":"Denmark","status":"Validated","source":"27966541[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":3.66,"area":"Denmark","status":"Validated","source":"27966541[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-06","source":"25834951[PMID]_30578515[PMID]_26279462[PMID]","terms":[{"hpo":"HP:0000478","label":"Abnormality of the eye","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006748","label":"Adrenal pheochromocytoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006880","label":"Cerebellar hemangioblastoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011976","label":"Elevated urinary catecholamines","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005584","label":"Renal cell carcinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009711","label":"Retinal capillary hemangioma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005162","label":"Abnormal left ventricular function","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011675","label":"Arrhythmia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003418","label":"Back pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009053","label":"Distal lower limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003334","label":"Elevated circulating catecholamine level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030393","label":"Endolymphatic sac tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001095","label":"Hypertensive retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009763","label":"Limb pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040049","label":"Macular edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005562","label":"Multiple renal cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001737","label":"Pancreatic cysts","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030405","label":"Pancreatic endocrine tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008261","label":"Pancreatic islet cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009715","label":"Papillary cystadenoma of the epididymis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001085","label":"Papilledema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001297","label":"Stroke","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003484","label":"Upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000572","label":"Visual loss","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030424","label":"Epididymal cyst","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001658","label":"Myocardial infarction","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012819","label":"Myocarditis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002668","label":"Paraganglioma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001901","label":"Polycythemia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000541","label":"Retinal detachment","frequency":"Very rare (<4-1%)","criteria":null}]}}