{"orpha":653,"name":"Multiple endocrine neoplasia type 2","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MEN2"],"definition":"A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-653/","orphanet_url":"https://www.orpha.net/en/disease/detail/653","names":{"fr":{"name":"Néoplasie endocrinienne multiple type 2","synonyms":["MEN2","NEM2"],"definition":"Syndrome de néoplasie endocrinienne multiple (NEM) qui se caractérise principalement par l'association du carcinome médullaire de la thyroïde (CMT) à d'autres tumeurs endocrines. Le sous-type NEM2A est défini par un CMT associé à un phéochromocytome et/ou à une hyperparathyroïdie primaire (NEM2A) ; le sous-type NEM2B est défini comme étant une forme agressive de CMT en association avec un phéochromocytome, mais sans hyperparathyroïdie primaire."},"de":{"name":"Neoplasie, endokrine multiple, Typ 2","synonyms":["MEN2"],"definition":"Eine seltene multiple endokrine Neoplasie (MEN), die hauptsächlich durch die Assoziation eines medullären Schilddrüsenkarzinoms (MTC) mit anderen endokrinen Tumoren gekennzeichnet ist. MEN 2A ist definiert als MTC in Kombination mit Phäochromozytom und/oder primärem Hyperparathyreoidismus (MEN2A); MEN 2B ist definiert als eine aggressive Form von MTC in Kombination mit Phäochromozytom, aber ohne primären Hyperparathyreoidismus."},"es":{"name":"Neoplasia endocrina múltiple tipo 2","synonyms":["MEN2"],"definition":"Es un síndrome de neoplasia endocrina múltiple (NEM) poco frecuente caracterizado por la asociación de carcinoma medular de tiroides (CMT) con otros tumores endocrinos. La variante NEM2A se define como un CMT asociado a feocromocitoma y/o hiperparatiroidismo primario (NEM2A), y la variante NEM2B como una forma agresiva de CMT asociada a feocromocitoma pero sin hiperparatiroidismo primario."},"it":{"name":"Neoplasia endocrina multipla tipo 2","synonyms":["MEN2"],"definition":"La neoplasia endocrina multipla tipo 2 (MEN2) è una sindrome neoplastica plurighiandolare. Ne esistono due forme, la MEN2A e la MEN2B."},"nl":{"name":"Multipele endocriene neoplasie type 2","synonyms":["MEN2"],"definition":"Een zeldzaam syndroom van multipele endocriene neoplasie (MEN), gekenmerkt door associatie van medullair schildkliercarcinoom (MTC) met andere endocriene tumoren. MEN2A wordt gedefinieerd door MTC geassocieerd met feochromocytoom en/of primaire hyperparathyreoïdie, en MEN2B door een agressieve vorm van MTC geassocieerd met feochromocytoom maar zonder primaire hyperparathyreoïdie."},"pt":{"name":"Neoplasias endócrinas múltiplas tipo 2","synonyms":["MEN 2","Síndrome Sipple"],"definition":"Síndrome rara de neoplasia endócrina múltipla (MEN) que se caracteriza essencialmente pela associação de carcinoma medular da tiróide (CMT) com outros tumores endócrinos. A variante MEN 2A é definida pelo CMT associado a feocromocitoma e/ou hiperparatiroidismo primário (MEN2A); a variante MEN 2B é definida como uma forma agressiva de CMT associada a feocromocitoma, mas sem a ocorrência de hiperparatiroidismo primário."},"pl":{"name":"Mnoga gruczolakowatość wewnątrzwydzielnicza typu 2","synonyms":["MEN2"]},"cs":{"name":"Mnohočetná endokrinní neoplázie, typ 2","synonyms":["MEN2"]},"uk":{"name":"Множинна ендокринна неоплазія, тип 2","synonyms":["MEN2"],"definition":"A rare multiple endocrine neoplasia (MEN) syndrome that is principally characterized by the association of medullary thyroid carcinoma (MTC) with other endocrine tumors. The variant MEN 2A is defined by MTC associated with pheochromocytoma and/or primary hyperparathyroidism (MEN2A); the variant MEN 2B is defined as an aggressive form of MTC in association with pheochromocytoma but without primary hyperparathyroidism."},"zh":{"name":"多发性内分泌瘤病2型","synonyms":["MEN2型"]},"tr":{"name":"Çoklu endokrin neoplazi tip 2","synonyms":["MEN2"]}},"xrefs":[{"source":"OMIM","code":"155240","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"162300","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"171400","qualifier":"BTNT","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":"1837913809"},{"source":"MONDO","code":"0019003","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4048306","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3830","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073149","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":250908,"name":"Rare neoplastic disease"},"parents":[{"orpha":425003,"name":"Inherited digestive cancer-predisposing syndrome","classifications":[152,156,202]},{"orpha":276161,"name":"Multiple endocrine neoplasia","classifications":[156,193,202]},{"orpha":100088,"name":"Rare thyroid carcinoma","classifications":[193,202]}],"children":[{"orpha":247698,"name":"Multiple endocrine neoplasia type 2A","type":"Clinical subtype"},{"orpha":247709,"name":"Multiple endocrine neoplasia type 2B","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20833330[PMID]_20301434[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"],"via":{"orpha":247698,"name":"Multiple endocrine neoplasia type 2A"}},{"symbol":"RET","name":"ret proto-oncogene","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20833330[PMID]_20301434[PMID]","hgnc":"9967","ensembl":"ENSG00000165731","omim":"164761","loci":["10q11.21"],"via":{"orpha":247709,"name":"Multiple endocrine neoplasia type 2B"}}],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.9,"area":"Europe","status":"Validated","source":"ISBN:9283224167[OTHER]_[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.25,"area":"Germany","status":"Validated","source":"23211574[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-20","source":"20301434[PMID]_24889858[PMID]","terms":[{"hpo":"HP:0002865","label":"Medullary thyroid carcinoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032241","label":"Cervical neoplasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003528","label":"Elevated calcitonin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011976","label":"Elevated urinary catecholamines","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003639","label":"Elevated urinary epinephrine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003345","label":"Elevated urinary norepinephrine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011978","label":"Elevated urinary vanillylmandelic acid","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002640","label":"Hypertension associated with pheochromocytoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100735","label":"Hypertensive crisis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008208","label":"Parathyroid hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002666","label":"Pheochromocytoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011781","label":"Thyroid C cell hyperplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025388","label":"Thyroid nodule","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030809","label":"Abnormal tongue morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002251","label":"Aganglionic megacolon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025289","label":"Cervical lymphadenopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032346","label":"Cutaneous lichen amyloidosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001519","label":"Disproportionate tall stature","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003165","label":"Elevated circulating parathyroid hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025151","label":"Ganglioneuromatosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003072","label":"Hypercalcemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002150","label":"Hypercalciuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003307","label":"Hyperlordosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002751","label":"Kyphoscoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031023","label":"Multiple mucosal neuromas","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030833","label":"Neck pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002896","label":"Neoplasm of the liver","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100526","label":"Neoplasm of the lung","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010622","label":"Neoplasm of the skeletal system","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000787","label":"Nephrolithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030430","label":"Neuroma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002864","label":"Paraganglioma of head and neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002897","label":"Parathyroid adenoma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008200","label":"Primary hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010726","label":"Prominent corneal nerve fibers","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001382","label":"Joint hypermobility","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007126","label":"Proximal amyotrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003758","label":"Reduced subcutaneous adipose tissue","frequency":"Very rare (<4-1%)","criteria":null}]}}