{"orpha":276152,"name":"Multiple endocrine neoplasia type 4","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MEN4"],"definition":"Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN, an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-276152/","orphanet_url":"https://www.orpha.net/en/disease/detail/276152","names":{"fr":{"name":"Néoplasie endocrinienne multiple type 4","synonyms":["MEN4","NEM4"],"definition":"Forme très rare de néoplasie endocrinienne multiple (NEM), un syndrome cancéreux héréditaire, caractérisée par des tumeurs de la parathyroïde et de l'antéhypophyse, éventuellement associées à des tumeurs des surrénales, des reins et des organes reproducteurs."},"de":{"name":"Neoplasie, endokrine multiple, Typ 4","synonyms":["MEN4"]},"es":{"name":"Neoplasia endocrina múltiple tipo 4","definition":"Es una forma muy poco frecuente de NEM, un síndrome de cáncer hereditario caracterizado por tumores en la glándula paratirodes y en la hipófisis anterior, posiblemente asociado a tumores suprarrenales, renales y de los órganos reproductores."},"it":{"name":"Neoplasia endrocina multipla tipo 4","synonyms":["MEN4"],"definition":"La neoplasia endocrina multipla tipo 4 (MEN4) è una forma molto rara di MEN (si veda questo termine), una sindrome tumorale ereditaria, caratterizzata da tumori delle paratiroidi e dell'ipofisi anteriore, talvolta associati a tumori dei surreni, dei reni e degli organi riproduttivi."},"nl":{"name":"Multipele endocriene neoplasie type 4","synonyms":["MEN4"],"definition":"Multipele endocriene neoplasie type 4 (MEN4) is een zeer zeldzame vorm van MEN (zie deze term), een erfelijk kankersyndroom, die wordt gekarakteriseerd door tumoren van de bijschildklier en anterieure hypofyse, mogelijk geassocieerd met tumoren van de bijnieren, nieren en voortplantingsorganen."},"pt":{"name":"Neoplasia endócrina múltipla tipo 4"},"pl":{"name":"Zespół mnogiej gruczolakowatości wewnątrzwydzielniczej typu 4","synonyms":["MEN4"]},"cs":{"name":"Mnohočetná endokrinní neoplázie, typ 4","synonyms":["MEN4"]},"uk":{"name":"Множинні ендокринні неоплазії, тип 4","synonyms":["MEN4"],"definition":"Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors."},"zh":{"name":"多发性内分泌肿瘤4型","synonyms":["MEN4"],"definition":"多发性内分泌肿瘤4型(MEN4)是一种非常罕见的MEN(见该词条)，是一种遗传性癌症综合征，以甲状旁腺和垂体前叶肿瘤为特征，可能与肾上腺、肾脏和生殖器官肿瘤有关。"},"tr":{"name":"Çoklu endokrin neoplazi tip 4","synonyms":["MEN4"]}},"xrefs":[{"source":"OMIM","code":"610755","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D44.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F7A.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"157945677"},{"source":"MONDO","code":"0012552","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567059","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970712","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":276161,"name":"Multiple endocrine neoplasia","classifications":[156,193,202]}],"children":[],"genes":[{"symbol":"CDKN1B","name":"cyclin dependent kinase inhibitor 1B","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25416039[PMID]","hgnc":"1785","ensembl":"ENSG00000111276","omim":"600778","loci":["12p13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":"17030811[PMID]_24819502[PMID]_22129891[PMID]_20824794[PMID]_17519308[PMID]_20980721[PMID]_17014705[PMID]_23645327[PMID]","terms":[{"hpo":"HP:0000818","label":"Abnormality of the endocrine system","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000843","label":"Hyperparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008208","label":"Parathyroid hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012091","label":"Abnormality of pancreas physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008256","label":"Adrenocortical adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010615","label":"Angiofibromas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002574","label":"Episodic abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100633","label":"Esophagitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008283","label":"Fasting hyperinsulinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000825","label":"Hyperinsulinemic hypoglycemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012197","label":"Insulinoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100634","label":"Neuroendocrine neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004398","label":"Peptic ulcer","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011760","label":"Pituitary growth hormone cell adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011761","label":"Pituitary null cell adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030445","label":"Pulmonary carcinoid tumor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006772","label":"Renal angiomyolipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001031","label":"Subcutaneous lipoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000854","label":"Thyroid adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002044","label":"Zollinger-Ellison syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030079","label":"Cervix cancer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007449","label":"Confetti-like hypopigmented macules","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010783","label":"Erythema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012334","label":"Extrahepatic cholestasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030688","label":"Increased glucagon level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012030","label":"Increased urinary cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006780","label":"Parathyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008291","label":"Pituitary corticotropic cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010788","label":"Testicular neoplasm","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100522","label":"Thymoma","frequency":"Very rare (<4-1%)","criteria":null}]}}