{"orpha":314777,"name":"Familial isolated pituitary adenoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FIPA"],"definition":"A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-314777/","orphanet_url":"https://www.orpha.net/en/disease/detail/314777","names":{"fr":{"name":"Adénome pituitaire isolé familial","synonyms":["FIPA"],"definition":"Tumeur endocrinienne héréditaire rare caractérisée par un adénome hypophysaire bénin sécrétant (par exemple, de la prolactine, de l'hormone de croissance et de l'hormone thyréostimulante) ou non secrétant. Les symptômes peuvent être dus à l'hypersécrétion hormonale et/ou à l'effet de masse de la lésion sur les structures adjacentes du cerveau."},"de":{"name":"Hypophysenadenom, isoliertes familiäres","synonyms":["FIPA"],"definition":"Ein seltener, erblich bedingter endokriner Tumor, der durch ein gutartiges Hypophysenadenom gekennzeichnet ist, das entweder sezerniert (z. B. Prolaktin, Wachstumshormon, Schilddrüsen-stimulierendes Hormon) oder nicht sezerniert. Symptome können entweder aufgrund der hormonellen Hypersekretion und/oder der Massenwirkung der Läsion auf lokale Strukturen im Gehirn auftreten."},"es":{"name":"Adenoma hipofisario aislado familiar","synonyms":["FIPA"],"definition":"Es un tumor endocrino hereditario poco frecuente caracterizado por un adenoma pituitario benigno secretor (prolactina, hormona del crecimiento, hormona estimulante de la tiroides) o no secretor. Los síntomas acompañantes pueden ser debidos a la hipersecreción hormonal y/o al efecto de masa de la lesión en las estructuras locales del cerebro."},"it":{"name":"Adenoma ipofisario isolato familiare","synonyms":["FIPA"],"definition":"L'adenoma ipofisario isolato familiare (FIPA) è una neoplasia endocrina ereditaria rara, caratterizzata da adenoma ipofisario benigno che può essere secernente (ad es. prolattina, ormone della crescita, ormone tireostimolante) o non secernente. I sintomi sono causati dall'ipersecrezione ormonale e/o dall'effetto della massa tumorale sulle strutture cerebrali adiacenti."},"nl":{"name":"Familiaal geïsoleerd hypofyseadenoom","synonyms":["FIPA"],"definition":"Een zeldzame, erfelijke, endocriene tumor gekarakteriseerd door een goedaardig hypofyseadenoom dat secreterend (e.g. prolactine, groeihormoon, thyreoïdstimulerend hormoon) of niet-secreterend is. Symptomen kunnen te wijten zijn aan de hormonale hypersecretie en/of het effect van het gezwel of het letsel op lokale structuren in de hersenen."},"pt":{"name":"Adenoma hipofisário isolado familiar","synonyms":["FIPA"]},"pl":{"name":"Rodzinny izolowany gruczolak przysadki","synonyms":["FIPA"]},"cs":{"name":"Familiární izolovaný adenom hypofýzy","synonyms":["FIPA"]},"uk":{"name":"Сімейна ізольована аденома гіпофіза","synonyms":["FIPA"],"definition":"A rare, hereditary endocrine tumor characterized by a benign pituitary adenoma that is either secreting (e.g. prolactin, growth hormone, thyroid stimulating hormone) or non-secreting. Symptoms may occur due to either the hormonal hypersecretion and/or the mass effect of the lesion on local structures in the brain."},"zh":{"name":"家族性孤立性垂体腺瘤","synonyms":["FIPA病"],"definition":"一种罕见的遗传性内分泌肿瘤，其特征为良性垂体腺瘤，病变部位可分泌激素（如催乳素、生长激素、促甲状腺激素）或不分泌。症状可能是由于激素分泌过多和/或病变对大脑局部结构的较大影响引起的。"},"tr":{"name":"Ailesel izole hipofiz adenomu","synonyms":["FIPA"]}},"xrefs":[{"source":"OMIM","code":"102200","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"617540","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D35.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F37.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0017824","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566321","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C2676191","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10959","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]},{"orpha":99408,"name":"Pituitary adenoma","classifications":[193,202]}],"children":[],"genes":[{"symbol":"AIP","name":"AHR interacting HSP90 co-chaperone","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22720333[PMID]","hgnc":"358","ensembl":"ENSG00000110711","omim":"605555","loci":["11q13.2"]},{"symbol":"CDH23","name":"cadherin related 23","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"28413019[PMID]","hgnc":"13733","ensembl":"ENSG00000107736","omim":"605516","loci":["10q22.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly","Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":150.0,"area":"Worldwide","status":"Validated","source":"22720333[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_[EXPERT]"}],"phenotypes":null}