{"orpha":91349,"name":"Non-functioning pituitary adenoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NFPA"],"definition":"A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91349/","orphanet_url":"https://www.orpha.net/en/disease/detail/91349","names":{"fr":{"name":"Adénome hypophysaire non fonctionnel","synonyms":["NFPA"],"definition":"Tumeur hypophysaire rare développée à partir des cellules de l'adéno-hypophyse qui produisent normalement des hormones et caractérisée par une masse sellaire ou extra-sellaire se manifestant par des signes cliniques en rapport avec un effet de masse, mais sans sécrétion hormonale. Les manifestations les plus caractéristiques sont des troubles visuels, des céphalées, des dysfonctions des paires de nerfs crâniens et une insuffisance hypophysaire, mais la tumeur peut aussi être découverte de manière fortuite."},"de":{"name":"Hypophysenadenom, nicht-funktionelles","synonyms":["NFPA"],"definition":"Ein seltener Hypophysentumor, der von normalerweise hormonproduzierenden Zellen der Adenohypophyse ausgeht und durch eine sellare oder extrasellare Gewebeverdichtung mit klinischen Symptomen gekennzeichnet ist, die auf einen Masseneffekt zurückzuführen sind, jedoch keinen Hinweis auf eine Hormonhypersekretion liefern. Typische Manifestationen sind Sehstörungen, Kopfschmerzen, Hirnnervenfunktionsstörungen und Hypopituitarismus, aber die Gewebeverdichtung kann auch zufällig entdeckt werden."},"es":{"name":"Adenoma hipofisario no secretor","synonyms":["NFPA"],"definition":"Es un tumor hipofisario poco frecuente que se origina a partir de células secretoras de hormonas de la adenohipófisis y caracterizado por una masa selar o supraselar que se manifiesta con signos clínicos secundarios al efecto masa, aunque sin evidencia de hipersecreción hormonal. Las manifestaciones típicas son trastornos visuales, cefalea, disfunción de los pares craneales e hipopituitarismo, aunque el tumor puede ser detectado de forma casual."},"it":{"name":"Adenoma ipofisario non funzionante","synonyms":["NFPA"],"definition":"L'adenoma ipofisario non funzionante (NFPA) è una neoplasia rara dell'ipofisi, che origina dalle cellule dell'adenoipofisi che normalmente producono ormoni, ed è caratterizzata dalla presenza di una massa all'interno o all'esterno della sella. Si associa a sintomi secondari alla presenza della massa tumorale, ma senza evidenza di ipersecrezione ormonale. I segni clinici caratteristici sono i deficit visivi, la cefalea, la disfunzione dei nervi cranici e l'ipopituitarismo. La massa può essere scoperta anche casualmente."},"nl":{"name":"Niet-functioneel hypofyseadenoom","synonyms":["NFPA"],"definition":"Een zeldzame tumor van hypofyse ontstaan uit normale hormoonproducerende cellen van adenohypofyse, gekarakteriseerd door een sellaire of extrasellaire massa die zich manifesteert met klinische verschijnselen secundair aan massa-effect, maar zonder bewijs van hypersecretie van hormoon. Typische manifestaties zijn visuele stoornissen, hoofdpijn, disfunctie van hersenzenuw, en hypopituïtarisme, maar de massa kan ook toevallig ontdekt worden."},"pt":{"name":"Adenoma hipofisário não-secretor","synonyms":["NFPA"]},"pl":{"name":"Nieczynny gruczolak przysadki","synonyms":["NFPA"]},"cs":{"name":"Hormonálně neaktivní adenom hypofýzy","synonyms":["NFPA"]},"uk":{"name":"Нефункціонуюча аденома гіпофіза","synonyms":["NFPA"],"definition":"A rare pituitary tumor originating from normally hormone-producing cells of the adenohypophysis, characterized by a sellar or extrasellar mass manifesting with clinical signs secondary to mass effect, but without evidence for hormonal hypersecretion. Typical manifestations are visual disturbances, headaches, cranial nerve dysfunction, and hypopituitarism but the mass may also be discovered incidentally."},"zh":{"name":"非功能性垂体腺瘤","synonyms":["NFPA"]},"tr":{"name":"İşlevsiz hipofiz adenomu","synonyms":["NFPA"]}},"xrefs":[{"source":"ICD-10","code":"D35.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F37.0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1197752358"},{"source":"MONDO","code":"0019613","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0338078","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10029556","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":99408,"name":"Pituitary adenoma","classifications":[193,202]}],"children":[{"orpha":314790,"name":"Null pituitary adenoma","type":"Histopathological subtype"},{"orpha":314786,"name":"Silent pituitary adenoma","type":"Histopathological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"AIP","name":"AHR interacting HSP90 co-chaperone","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23321498[PMID]","hgnc":"358","ensembl":"ENSG00000110711","omim":"605555","loci":["11q13.2"],"via":{"orpha":314786,"name":"Silent pituitary adenoma"}},{"symbol":"AIP","name":"AHR interacting HSP90 co-chaperone","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23321498[PMID]","hgnc":"358","ensembl":"ENSG00000110711","omim":"605555","loci":["11q13.2"],"via":{"orpha":314790,"name":"Null pituitary adenoma"}},{"symbol":"MEN1","name":"menin 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23321498[PMID]","hgnc":"7010","ensembl":"ENSG00000133895","omim":"613733","loci":["11q13.1"],"via":{"orpha":314786,"name":"Silent pituitary adenoma"}},{"symbol":"MEN1","name":"menin 1","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"23321498[PMID]","hgnc":"7010","ensembl":"ENSG00000133895","omim":"613733","loci":["11q13.1"],"via":{"orpha":314790,"name":"Null pituitary adenoma"}}],"inheritance":["Not applicable"],"onset":["Adolescent","Adult","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"1-5 / 10 000","value":0.0,"area":"Europe","status":"Validated","source":"ORPHANET_26072284[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Finland","status":"Validated","source":"20534753[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Sweden","status":"Validated","source":"10770176[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":94.0,"area":"Belgium","status":"Validated","source":"16968795[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":80.5,"area":"Switzerland","status":"Validated","source":"19968031[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":77.6,"area":"United Kingdom","status":"Validated","source":"19650784[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":68.0,"area":"Finland","status":"Validated","source":"20534753[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.55,"area":"Europe","status":"Not yet validated","source":"ORPHANET_25946030[PMID]_20534753[PMID]_10770176[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":1.05,"area":"Worldwide","status":"Validated","source":"25946030[PMID]_20534753[PMID]_10770176[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-13","source":"30521182[PMID]_8496297[PMID]_26072284[PMID]_26070464[PMID]_25208537[PMID]_21474687[PMID]_19945027[PMID]","terms":[{"hpo":"HP:0002893","label":"Pituitary adenoma","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011804","label":"Abnormal muscle physiology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012503","label":"Abnormality of the pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000846","label":"Adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011748","label":"Adrenocorticotropic hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011735","label":"Adrenocorticotropin deficient adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010972","label":"Anemia of inadequate production","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030521","label":"Bitemporal hemianopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011734","label":"Central adrenal insufficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000868","label":"Decreased fertility in females","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000134","label":"Female hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008993","label":"Increased intraabdominal fat","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000980","label":"Pallor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000529","label":"Progressive visual loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002013","label":"Vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006897","label":"Abducens palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000863","label":"Central diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030998","label":"Cerebrospinal fluid rhinorrhoea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007011","label":"Fourth cranial nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012377","label":"Hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030517","label":"Heteronymous hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030088","label":"Increased serum testosterone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007942","label":"Internal ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000053","label":"Macroorchidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002050","label":"Macroorchidism, postpubertal","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000871","label":"Panhypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000508","label":"Ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001117","label":"Sudden loss of visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Occasional (29-5%)","criteria":null}]}}