{"orpha":652,"name":"Multiple endocrine neoplasia type 1","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MEN1","Wermer syndrome"],"definition":"A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-652/","orphanet_url":"https://www.orpha.net/en/disease/detail/652","names":{"fr":{"name":"Néoplasie endocrinienne multiple type 1","synonyms":["NEM1","Syndrome de Wermer"],"definition":"Syndrome héréditaire rare caractérisé par le développement de nombreuses tumeurs neuroendocrines des parathyroïdes, du tractus digestif (duodénum, pancréas) et de l'hypophyse antérieure, et plus rarement, de la glande corticosurrénale, du thymus et des bronches, et chez certains patients, d'autres tumeurs non endocrines."},"de":{"name":"Neoplasie, endokrine multiple, Typ 1","synonyms":["MEN 1","Wermer-Syndrom"],"definition":"Ein seltenes erbliches Tumor-Syndrom, das durch die Entwicklung multipler neuroendokriner Tumoren der Nebenschilddrüsen, des Magen-Darm-Trakts und des Hypophysenvorderlappens sowie seltener der Nebennierenrinde, der Thymusdrüse und der Bronchien gekennzeichnet ist, wobei bei einigen Patienten auch andere nicht-endokrine Tumoren auftreten."},"es":{"name":"Neoplasia endocrina múltiple tipo 1","definition":"Es un síndrome de cáncer hereditario poco frecuente caracterizado por el desarrollo de múltiples tumores neuroendocrinos de las paratiroides, el tracto gastroenteropancreático y la hipófisis anterior, y, con menor frecuencia, de la glándula cortical suprarrenal, el timo y los bronquios, con otros tumores no endocrinos en algunos pacientes."},"it":{"name":"Neoplasia endocrina multipla tipo 1","synonyms":["MEN 1","Sindrome di Wermer"],"definition":"La neoplasia endocrina multipla tipo 1 (MEN1) è una sindrome tumorale ereditaria rara, caratterizzata dallo sviluppo di tumori neuroendocrini multipli delle paratiroidi, del tratto gastro-entero-pancreatico, dell'ipofisi anteriore e, più raramente, della corteccia del surrene, del timo e dei bronchi, talvolta associati ad altri tumori non endocrini."},"nl":{"name":"Multipele endocriene neoplasie type 1","synonyms":["MEN1","Syndroom van Wermer"],"definition":"Een zeldzaam erfelijk kankersyndroom, gekarakteriseerd door ontwikkeling van multipele neuro-endocriene tumoren van parathyroïd, gastro-entero-pancreatisch stelsel, en adenohypofyse, en minder vaak van bijnierschors, thymus en bronchiën, en bij sommige patiënten ook niet-endocriene tumoren."},"pt":{"name":"Neoplasias endócrinas múltiplas tipo 1","synonyms":["MEN 1","Síndrome Wermer"]},"pl":{"name":"Zespół mnogiej gruczolakowatości wewnątrzwydzielniczej typu 1","synonyms":["MEN 1","Zespół Wermera"],"definition":"Rzadki dziedziczny zespół predyspozycji do nowotworów, charakteryzujący się rozwojem licznych guzów neuroendokrynnych przytarczyc, żołądka, jelit i trzustki, przedniego płata przysadki mózgowej, rzadziej kory nadnerczy, grasicy i oskrzeli, a u niektórych pacjentów także innych nowotworów nieendokrynnych."},"cs":{"name":"Syndrom mnohočetné endokrinní neoplázie, typ 1","synonyms":["MEN1","Wermerův syndrom"]},"uk":{"name":"Множинні ендокринні неоплазії, тип 1","synonyms":["MEN1","Синдром Вермера"],"definition":"A rare inherited cancer syndrome, characterized by the development of multiple neuroendocrine tumors of the parathyroids, gastro-entero-pancreatic tract, and anterior pituitary gland, and less commonly the adrenal cortical gland, thymus and bronchi, with other non-endocrine tumors in some patients."},"zh":{"name":"多发性内分泌瘤病1型","synonyms":["Wermer综合征"]},"tr":{"name":"Çoklu endokrin neoplazi tip-I","synonyms":["MEN1","Wermer sendromu"]}},"xrefs":[{"source":"OMIM","code":"131100","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":"1638765741"},{"source":"MONDO","code":"0007540","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018761","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025267","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3829","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073150","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":2207,"name":"Familial primary hyperparathyroidism","classifications":[156,193,202]},{"orpha":425003,"name":"Inherited digestive cancer-predisposing syndrome","classifications":[152,156,202]},{"orpha":276161,"name":"Multiple endocrine neoplasia","classifications":[156,193,202]},{"orpha":314749,"name":"Rare disease with adrenal Cushing syndrome as a major feature","classifications":[193]}],"children":[],"genes":[{"symbol":"CDKN1B","name":"cyclin dependent kinase inhibitor 1B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"22026581[PMID]_25824098[PMID]","hgnc":"1785","ensembl":"ENSG00000111276","omim":"600778","loci":["12p13.1"]},{"symbol":"CDKN2B","name":"cyclin dependent kinase inhibitor 2B","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"19141585[PMID]","hgnc":"1788","ensembl":"ENSG00000147883","omim":"600431","loci":["9p21.3"]},{"symbol":"MEN1","name":"menin 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301710[PMID]","hgnc":"7010","ensembl":"ENSG00000133895","omim":"613733","loci":["11q13.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.3,"area":"Europe","status":"Validated","source":"20301710[PMID]_17014705[PMID]_ [EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-03-16","source":"20301710[PMID]","terms":[{"hpo":"HP:0010615","label":"Angiofibromas","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031058","label":"Impairment of activities of daily living","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008208","label":"Parathyroid hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002027","label":"Abdominal pain","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000849","label":"Adrenocortical abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040306","label":"Decreased male libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100829","label":"Galactorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002020","label":"Gastroesophageal reflux","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0500167","label":"Hypergastrinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005605","label":"Large cafe-au-lait macules with irregular margins","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001012","label":"Multiple lipomas","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002894","label":"Neoplasm of the pancreas","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:0006767","label":"Pituitary prolactin cell adenoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002044","label":"Zollinger-Ellison syndrome","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040085","label":"Abnormal circulating aldosterone","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006744","label":"Adrenocortical carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100570","label":"Carcinoid tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007449","label":"Confetti-like hypopigmented macules","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001293","label":"Cranial nerve compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032044","label":"Decreased vigilance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001944","label":"Dehydration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002588","label":"Duodenal ulcer","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000169","label":"Gingival fibromatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002248","label":"Hematemesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003118","label":"Increased circulating cortisol level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012197","label":"Insulinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006723","label":"Intestinal carcinoid","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002249","label":"Melena","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002858","label":"Meningioma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002018","label":"Nausea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002797","label":"Osteolysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030405","label":"Pancreatic endocrine tumor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011760","label":"Pituitary growth hormone cell adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001579","label":"Primary hypercortisolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011407","label":"Proportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012232","label":"Shortened QT interval","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002890","label":"Thyroid carcinoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003528","label":"Elevated calcitonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002888","label":"Ependymoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030404","label":"Glucagonoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003144","label":"Increased serum serotonin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011151","label":"Obtundation status","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0006780","label":"Parathyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008291","label":"Pituitary corticotropic cell adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011759","label":"Pituitary gonadotropic cell adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011761","label":"Pituitary null cell adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011762","label":"Pituitary thyrotropic cell adenoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030445","label":"Pulmonary carcinoid tumor","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100522","label":"Thymoma","frequency":"Very rare (<4-1%)","criteria":null}]}}