{"orpha":247698,"name":"Multiple endocrine neoplasia type 2A","type":"Clinical subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["MEN2A","PTC syndrome","Sipple syndrome"],"definition":"A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247698/","orphanet_url":"https://www.orpha.net/en/disease/detail/247698","names":{"fr":{"name":"Néoplasie endocrinienne multiple type 2A","synonyms":["MEN2A","Syndrome PTC","Syndrome de Sipple"],"definition":"Forme de syndrome de néoplasie endocrinienne multiple type 2 (MEN2), caractérisée par un carcinome médullaire de la thyroïde en association avec un phéochromocytome (affectant l'une ou les deux glandes surrénales) et/ou une hyperparathyroïdie primitive (causée par un adénome parathyroïdien). L'apparition est typiquement plus tardive que dans le cas de MEN2B, avant l'âge de 35 ans. La diarrhée est le symptôme systémique le plus fréquent. Les patients peuvent développer la maladie de Hirschsprung et, dans des cas plus rares, un lichen amyloïde cutané ou une production excessive d'hormone adrénocorticotrope."},"de":{"name":"Multiple endokrine Neoplasie Typ 2A","synonyms":["MEN2A","PTC-Syndrom","Sipple-Syndrom"],"definition":"Eine Form der multiplen endokrinen Neoplasie Typ 2 (MEN2), die durch ein medulläres Schilddrüsenkarzinom in Kombination mit einem Phäochromozytom (eine oder beide Nebennieren können betroffen sein) und/oder einem primären Hyperparathyreoidismus (verursacht durch ein Adenom der Nebenschilddrüse) gekennzeichnet ist. Die Erkrankung beginnt in der Regel später als bei MEN2B, vor dem 35. Lebensjahr. Das häufigste systemische Symptom ist Durchfall. Die Patienten können einen Morbus Hirschsprung entwickeln, seltener eine Lichen amyloidosus cutanus oder eine übermäßige Produktion von adrenocorticotropem Hormon."},"es":{"name":"Neoplasia endocrina múltiple tipo 2A","synonyms":["MEN2A","NEM2A","Síndrome PTC","Síndrome de Sipple"],"definition":"Es una forma del síndrome de neoplasia endocrina múltiple tipo 2 (MEN2) que se caracteriza por carcinoma medular de tiroides en combinación con feocromocitoma (una o ambas glándulas suprarrenales pueden verse afectadas) y/o hiperparatiroidismo primario (causado por un adenoma paratiroideo). Su inicio suele ser más tardío que en la MEN2B, pero antes de los 35 años. La diarrea es el síntoma sistémico más frecuente. Los pacientes pueden desarrollar la enfermedad de Hirschsprung y, con menor frecuencia, amiloidosis cutánea liquenoide o producción excesiva de hormona adrenocorticotrópica."},"it":{"name":"Neoplasia endocrina multipla, tipo 2A","synonyms":["MEN2A","Sindrome PTC","Sindrome di Sipple"],"definition":"Si tratta di una forma di neoplasia endocrina multipla tipo 2 (MEN2), caratterizzata da un carcinoma midollare della tiroide associato a un feocromocitoma (che interessa una o entrambe le ghiandole surrenali) e/o iperparatiroidismo primitivo (causato da un adenoma paratiroideo). Di solito esordisce più tardivamente rispetto alla MEN2B, prima dei 35 anni. La diarrea è il sintomo sistemico più comune. I pazienti possono sviluppare la malattia di Hirschsprung e, più di rado, il lichen cutaneo amiloidosico o un eccesso dell'ormone adrenocorticotropo."},"nl":{"name":"Multipele endocriene neoplasie type 2A","synonyms":["MEN2A","PTC-syndroom","Syndroom van Sipple"],"definition":"Een vorm van multipele endocriene neoplasie type 2 (MEN2)-syndroom, gekenmerkt door medullair carcinoom van schildklier, in associatie met feochromocytoom (één of beide bijnieren kunnen aangetast zijn) en/of primaire hyperparathyreoïdie (veroorzaakt door adenoom van bijschildklier). De aandoening treedt doorgaans later op dan MEN2B, voor de leeftijd van 35 jaar. Diarree is het meest voorkomende systemische symptoom. Patiënten kunnen ziekte van Hirschsprung ontwikkelen, alsook, zij het minder frequent, cutane lichen amyloidosus of excessieve productie van adrenocorticotroop hormoon."},"pt":{"name":"Neoplasia endócrina múltipla, tipo 2A","definition":"Forma da síndrome de neoplasia endócrina múltipla tipo 2 (MEN2) caracterizada por carcinoma medular da tiróide em associação com feocromocitoma (uma ou ambas as glândulas suprarrenais podem ser afetadas) e / ou hiperparatiroidismo primário (causado por adenoma da paratiróide). O início ocorre habitualmente mais tarde que no MEN2B, antes dos 35 anos de idade. A diarreia é o sintoma sistémico mais frequente. Os doentes podem desenvolver doença de Hirschsprung e, com menos frequência, líquen amiloidose cutânea ou produção excessiva de hormona adrenocorticotrópica."},"pl":{"name":"Zespół gruczolakowatości wewnątrzwydzielniczej typu 2A","synonyms":["MEN2A","Zespół PTC","Zespół Sipple'a"]},"cs":{"name":"Mnohočetná endokrinní neoplázie, typ 2A","synonyms":["MEN-2A","PTC syndrom","Sippleův syndrom"]},"uk":{"name":"Множинна ендокринна неоплазія, тип 2А","synonyms":["MEN2A","Синдром PTC","Симптом Сіппла"],"definition":"A form of multiple endocrine neoplasia type 2 (MEN2) syndrome characterized by medullary thyroid carcinoma in association with pheochromocytoma (one or both adrenal glands can be affected) and/or primary hyperparathyroidism (caused by parathyroid adenoma). Onset is typically later than in MEN2B, before 35 years of age. Diarrhea is the most frequent systemic symptom. Patients can develop Hirschsprung disease and, less frequently, cutaneous lichen amyloidosis or excessive production of adrenocorticotropic hormone."},"zh":{"name":"多发性内分泌肿瘤2A型","synonyms":["Sipple综合征"],"definition":"多发性内分泌肿瘤2A型（MEN2A）综合征是MEN2（见该词条）的一种类型，其特征是甲状腺髓样癌（MTC；见该词条）合并嗜铬细胞瘤（见该词条）和由甲状旁腺细胞增生或腺瘤引起的原发性轻度甲状旁腺功能亢进。"},"tr":{"name":"Çoklu endokrin neoplazi tip 2A","synonyms":["MEN2A","PTC sendromu","Sipple sendromu"]}},"xrefs":[{"source":"OMIM","code":"171400","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":"1689268035"},{"source":"MONDO","code":"0008234","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D018813","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0025268","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4881","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10073148","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":653,"name":"Multiple endocrine neoplasia type 2","classifications":[152,156,193,202]}],"children":[],"genes":[{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[],"phenotypes":null}