{"orpha":2965,"name":"Prolactinoma","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lactotroph adenoma","PRL-secreting pituitary adenoma","PRLoma","Pituitary lactotrophic adenoma","Prolactin-secreting pituitary adenoma"],"definition":"A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2965/","orphanet_url":"https://www.orpha.net/en/disease/detail/2965","names":{"fr":{"name":"Prolactinome","synonyms":["Adénome hypophysaire à PRL","Adénome hypophysaire à prolactine","Adénome lactotrope","Adénome lactotrope hypophysaire","PRLome"],"definition":"Tumeur rare, généralement bénigne, du lobe antérieur de l'hypophyse, à l'origine d'une hyperprolactinémie. Les manifestations cliniques les plus fréquentes sont une aménorrhée et une infertilité chez les femmes, ainsi qu'une impuissance, une baisse de la libido et une infertilité chez les hommes."},"de":{"name":"Prolaktinom","synonyms":["LTH-produzierendes Hypophysen-Adenom","Laktotropes Adenom der Hypophyse","PRLom","Prolaktin-produzierendes Hypophysen-Adenom"],"definition":"Das Prolaktinom ist eine meist benigne Neoplasie der Hypophyse und verursacht Hyperprolaktinämie. Die häufigsten klinischen Symptome sind Amenorrhoe und Unfruchtbarkeit bei Frauen sowie Impotenz, verminderte Libido und Unfruchtbarkeit bei Männern."},"es":{"name":"Prolactinoma","synonyms":["Adenoma hipofisario secretor de PRL","Adenoma hipofisario secretor de prolactina","Adenoma lactotrofo","Adenoma lactotrófico hipofisario","PRLoma"],"definition":"Es una neoplasia de la glándula pituitaria anterior poco frecuente, generalmente benigna, que ocasiona hiperprolactinemia. Las manifestaciones clínicas más comunes son amenorrea e infertilidad en mujeres; e impotencia, disminución de la libido e infertilidad en varones."},"it":{"name":"Prolattinoma","synonyms":["Adenoma ipofisario PRL-secernente","Adenoma ipofisario secernente prolattina","Adenoma lattotropo","Adenoma lattotropo ipofisario","PRLoma"],"definition":"Il prolattinoma è una neoplasia rara dell'ipofisi anteriore, in genere benigna, che esita nell'iperprolattinemia. I segni clinici più comuni sono l'amenorrea e l'infertilità nelle femmine, e l'impotenza, la diminuzione della libido e l'infertilità nei maschi."},"nl":{"name":"Prolactinoom","synonyms":["Lactotroof hypofyseadenoom","Lactotroop adenoom","PRL-secreterend hypofyseadenoom","PRLoom","Prolactinesecreterend hypofyseadenoom"],"definition":"Een zeldzaam, meestal goedaardig, neoplasma van adenohypofyse dat resulteert in hyperprolactinemie. De meest gangbare klinische manifestaties bij vrouwen zijn amenorroe en infertiliteit, en bij mannen impotentie, verminderd libido en infertiliteit."},"pt":{"name":"Prolactinoma","synonyms":["Adenoma hipofisário lactotrófico","Adenoma hipofisário secretor de PRL","Adenoma lactotrófico","Adenoma secretor de prolactina","PRLoma"]},"pl":{"name":"Prolaktinoma","synonyms":["Gruczolak laktotropowy","Gruczolak laktotropowy przysadki","Gruczolak przysadki wydzielając prolaktynę","Gruczolak przysadki wydzielający PRL","PRLoma"],"definition":"Prolaktynoma (guz prolaktynowy) to zwykle łagodny nowotwór przysadki, którego rezultatem jest hiperprolaktynemia. Do najczęstszych objawów klinicznych należą brak miesiączki i niepłodność u kobiet oraz impotencja, obniżenie libido i niepłodność u mężczyzn."},"cs":{"name":"Prolaktinom","synonyms":["Laktotropní adenom","Adenom hypofýzy produkující PRL","PRLom","Laktotropní adenom hypofýzy","Adenom hypofýzy produkující prolaktin"]},"uk":{"name":"Пролактинома","synonyms":["Лактотрофна аденома","Лактотрофна аденома гіпофіза","PRLoma","PRL-секретуюча аденома гіпофіза","Пролактин-секретуюча аденома гіпофіза"],"definition":"A rare, usually benign, neoplasm of the anterior pituitary gland that results in hyperprolactinemia. The most common clinical manifestations are amenorrhea and infertility in women; and impotence, decreased libido and infertility in men."},"zh":{"name":"催乳素瘤","synonyms":["分泌催乳素的垂体腺瘤"]},"tr":{"name":"Prolaktinom","synonyms":["PRLoma","Laktotrof adenom","Hipofiz laktotrofik adenom","PRL-salgılayıcı hipofiz adenomu","Prolaktin-salgılayıcı hipofiz adenomu"]}},"xrefs":[{"source":"ICD-10","code":"D35.2","qualifier":"ND","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"2F37.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1489672789"},{"source":"ICD-11","code":"XH1QS0","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1779103980"},{"source":"MONDO","code":"0010911","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D015175","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0033375","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"4508","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10036832","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":98311,"name":"OBSOLETE: Male infertility with impaired virilization due to a hypothalamic and pituitary disorder associated with hyperprolactinemia","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":314753,"name":"Functioning pituitary adenoma","classifications":[193,202]},{"orpha":715120,"name":"Hyperpituitarism","classifications":[193]},{"orpha":399831,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]},{"orpha":399572,"name":"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]}],"children":[],"genes":[{"symbol":"AIP","name":"AHR interacting HSP90 co-chaperone","gene_type":"gene with protein product","association":"Major susceptibility factor in","status":"Assessed","source":"22319033[PMID]_23321498[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"]},{"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"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Childhood","Elderly"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":44.4,"area":"United Kingdom","status":"Validated","source":"19650784[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":62.0,"area":"Belgium","status":"Validated","source":"16968795[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":45.7,"area":"Switzerland","status":"Validated","source":"19968031[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.05,"area":"Malta","status":"Validated","source":"23239049[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":50.7,"area":"Europe","status":"Validated","source":"16968795[PMID]_ 19650784[PMID]_ 19968031[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-25","source":"21296991[PMID]_25208537[PMID]_26641246[PMID]_24195502[PMID]_22542456[PMID]_25532043[PMID]_23321498[PMID]_22319033[PMID]_21753072[PMID]_17993773[PMID]_19407509[PMID]_22720333[PMID]","terms":[{"hpo":"HP:0000140","label":"Abnormality of the menstrual cycle","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012503","label":"Abnormality of the pituitary gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030018","label":"Decreased female libido","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000868","label":"Decreased fertility in females","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012041","label":"Decreased fertility in males","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100639","label":"Erectile dysfunction","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000134","label":"Female hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100829","label":"Galactorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000135","label":"Hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000858","label":"Irregular menstruation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011362","label":"Abnormal hair quantity","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: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:0030016","label":"Dyspareunia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003388","label":"Easy fatigability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000771","label":"Gynecomastia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002615","label":"Hypotension","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","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:0000830","label":"Anterior hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030521","label":"Bitemporal hemianopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006824","label":"Cranial nerve paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000845","label":"Elevated circulating growth hormone concentration","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:0007942","label":"Internal ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","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}]}}