{"orpha":397685,"name":"Familial hyperprolactinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial isolated prolactin receptor deficiency"],"definition":"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-397685/","orphanet_url":"https://www.orpha.net/en/disease/detail/397685","names":{"fr":{"name":"Hyperprolactinémie familiale","synonyms":["Déficit familial isolé en récepteur de la prolactine"],"definition":"L'hyperprolactinémie familiale est une maladie génétique endocrinienne rare caractérisée par la persistance de taux sériques élevés en prolactine (non associée à la gestation, la puerpéralité, la prise de médicaments ou la présence d'une tumeur pituitaire) chez plusieurs membres d'une même famille. Sur le plan clinique, elle se manifeste par des signes observés habituellement dans l'hyperprolactinémie, ce qui inclut une aménorrhée secondaire, négative à l'acétate de médroxyprogestérone (AMP) et une galactorrhée chez les femmes, et un hypogonadisme et une anomalie sexuelle causée par une diminution du taux de testostérone chez les patients hommes. Chez certaines patientes, une oligoménorrhée et une infertilité primaire ont aussi été rapportées."},"de":{"name":"Hyperprolaktinämie, familiäre","synonyms":["Prolaktin-Rezeptor-Mangel, familiärer isolierter"],"definition":"Die familiäre Hyperprolaktinämie ist eine seltene, genetisch bedingte endokrine Störung, die durch anhaltend hohe Prolaktin-Serumspiegel (nicht assoziiert mit Schwangerschaft, Wochenbett, Medikamenteneinnahme oder Hypophysentumor) bei mehreren Mitgliedern einer Familie gekennzeichnet ist. Klinisch manifestiert sie sich mit Zeichen, die üblicherweise bei Hyperprolaktinämie beobachtet werden, nämlich: sekundäre Medroxyprogesteronacetat (MPA)-negative Amenorrhoe und Galaktorrhoe bei weiblichen Patienten und Hypogonadismus und sexuelle Dysfunktion durch erniedrigten Testosteronspiegel bei männlichen Patienten. Bei einigen weiblichen Patienten wurde auch über Oligomenorrhoe und primäre Unfruchtbarkeit berichtet."},"es":{"name":"Hiperprolactinemia familiar","synonyms":["Deficiencia aislada del receptor de prolactina familiar"],"definition":"La hiperprolactinemia familiar es un trastorno endocrino, genético y poco frecuente, caracterizado por niveles séricos de prolactina persistentemente elevados (no asociados con la gestación, el puerperio, el consumo de medicamentos o un tumor pituitario) en varios miembros de una familia. Clínicamente se manifiesta con los signos generalmente observados en la hiperprolactinemia, tales como: amenorrea y galactorrea secundaria no-respondedora a acetato de medroxiprogesterona (AMP) en mujeres, e hipogonadismo y disfunción sexual inducida por disminución de los niveles de testosterona en pacientes varones. También se ha descrito la presencia de oligomenorrea e infertilidad primaria en algunas mujeres."},"it":{"name":"Iperprolattinemia familiare","synonyms":["Deficit isolato familiare del recettore della prolattina"],"definition":"L'iperprolattinemia familiare è una malattia endocrina rara di origine genetica, caratterizzata da costante aumento dei livelli di prolattina nel siero (non associato alla gravidanza, al puerperio, all'assunzione di farmaci o a tumori dell'ipofisi) in più membri della stessa famiglia. Dal punto di vista clinico, esordisce con i segni tipici dell'iperprolattinemia, ovvero: amenorrea secondaria negativa al medrossiprogesterone acetato (MPA) e galattorrea nelle femmine e ipogonadismo e disfunzione sessuale secondaria alla diminuzione dei livelli di testosterone nei maschi. Alcune pazienti presentano inoltre oligomenorrea e infertilità primitiva."},"nl":{"name":"Familiale hyperprolactinemie","synonyms":["Familiale geïsoleerde deficiëntie van prolactinereceptor"],"definition":"Familiale hyperprolactinemie is een zeldzame, genetische endocriene stoornis die gekarakteriseerd wordt door aanhoudend hoge gehaltes van prolactine in het serum (niet geassocieerd met gestatie, puerperium (kraamtijd), inname van geneesmiddelen of hypofysetumor) in meerdere leden van een familie. Klinisch manifesteert de ziekte zich met tekenen die meestal worden waargenomen bij hyperprolactinemie, zijnde secundaire medroxyprogesteronacetaat (MPA)-negatieve amenorroe en galactorroe in vrouwelijke patiënten, en hypogonadisme en seksuele disfunctie door een gedaald testosterongehalte in mannelijke patiënten. Oligomenorroe en primaire onvruchtbaarheid werden ook reeds gerapporteerd bij sommige vrouwelijke patiënten."},"pt":{"name":"Hiperprolactinémia familiar"},"pl":{"name":"Hiperprolaktynemia rodzinna","synonyms":["Rodzinny izolowany Niedobór receptora prolaktyny"]},"cs":{"name":"Familiární hyperprolaktinémie","synonyms":["Familiární izolovaný deficit prolaktinového receptoru"]},"uk":{"name":"Сімейна гіперпролактинемія","synonyms":["Сімейний ізольований дефіцит рецепторів пролактину"],"definition":"Familial hyperprolactinemia is a rare, genetic endocrine disorder characterized by persistently high prolactin serum levels (not associated with gestation, puerperium, drug intake or pituitary tumor) in multiple members of a family. Clinically it manifests with signs usually observed in hyperprolactinemia, which are: secondary medroxyprogesterone acetate (MPA)-negative amenorrhea and galactorrhea in female patients, and hypogonadism and decreased testosterone level-driven sexual dysfunction in male patients. Oligomenorrhea and primary infertility have also been reported in some female patients."},"zh":{"name":"家族性高催乳素血症","synonyms":["家族性孤立性催乳素受体缺乏症"],"definition":"家族性高泌乳素血症是一种罕见的遗传性内分泌疾病，其特征是一个家族中多个成员的血清催乳素水平持续升高(与妊娠、产褥期、药物摄入或垂体肿瘤无关)。临床上表现为通常在高泌乳素血症中观察到的体征，即:女性患者继发性醋酸甲羟孕酮阴性闭经和溢乳，男性患者性腺功能减退和睾酮水平下降导致的性功能障碍。在一些女性患者中也有月经过少和原发性不孕的报道。"},"tr":{"name":"ailesel hiperprolaktinemi","synonyms":["Ailesel izole prolaktin reseptör eksikliği"]}},"xrefs":[{"source":"OMIM","code":"615555","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E22.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A60.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0014250","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4706551","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":399831,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]},{"orpha":400011,"name":"Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin","classifications":[156]},{"orpha":183628,"name":"Rare genetic hypothalamic or pituitary disease","classifications":[156]},{"orpha":399572,"name":"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder","classifications":[201]},{"orpha":399983,"name":"Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin","classifications":[156]}],"children":[],"genes":[{"symbol":"PRLR","name":"prolactin receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24195502[PMID]","hgnc":"9446","ensembl":"ENSG00000113494","omim":"176761","loci":["5p13.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-01-11","source":"24597878[PMID]_15218000[PMID]_24597877[PMID]_24597880[PMID]_24597879[PMID]_24195502[PMID]","terms":[{"hpo":"HP:0100829","label":"Galactorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000876","label":"Oligomenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000141","label":"Amenorrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012886","label":"Hemorrhagic ovarian cyst","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000789","label":"Infertility","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000134","label":"Female hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000132","label":"Menorrhagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000938","label":"Osteopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Occasional (29-5%)","criteria":null}]}}