{"orpha":91350,"name":"Pituitary deficiency due to Rathke cleft cysts","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-91350/","orphanet_url":"https://www.orpha.net/en/disease/detail/91350","names":{"fr":{"name":"Déficit hypophysaire associé à un kyste de la poche de Rathke","definition":"Insuffisance hypophysaire acquise rare caractérisée par une combinaison de maux de tête, de troubles du champ visuel corrélés à la taille du kyste et d'un déficit hypophysaire. Les manifestations hormonales les plus fréquentes sont un hypogonadisme avec aménorrhée/impuissance sexuelle ou libido faible et une galactorrhée."},"de":{"name":"Hypophysenfunktionsstörung durch Zyste der Rathke-Tasche","definition":"Ein seltener erworbener Hypophysenhormonmangel, der durch eine Kombination aus Kopfschmerzen, Gesichtsfeldausfällen, die mit der Zystengröße korrelieren, und Hypophysenfunktionsstörungen gekennzeichnet ist. Die häufigsten hormonellen Manifestationen sind Hypogonadismus mit Amenorrhoe/Impotenz oder geringer Libido und Galaktorrhoe."},"es":{"name":"Deficiencia hipofisaria por quistes de la bolsa de Rathke","definition":"Es una deficiencia de hormona hipofisaria adquirida y poco frecuente que se caracteriza por una combinación de cefalea y defectos del campo visual que se correlacionan con el tamaño del quiste, y disfunción hipofisaria. Las manifestaciones hormonales más frecuentes son hipogonadismo con amenorrea / impotencia o disminución de la libido y galactorrea."},"it":{"name":"Deficit ipofisario da cisti della tasca di Rathke","definition":"Il deficit ipofisario da cisti della tasca di Rathke è un difetto raro acquisito degli ormoni dell'ipofisi, caratterizzato da cefalea, difetti del campo visivo correlati alle dimensioni della cisti, e disfunzione ormonale. I sintomi ormonali più frequenti sono l'ipogonadismo con amenorrea/impotenza o la diminuzione della libido e la galattorrea."},"nl":{"name":"Hypofysedeficiëntie door gespleten cysten van Rathke","definition":"Een zeldzame verworven deficiëntie van hypofysehormoon, gekenmerkt door een combinatie van hoofdpijn, defecten van gezichtsveld die correleren met de omvang van de cysten, en disfunctie van hypofyse. De meest frequente hormonale manifestaties zijn hypogonadisme met amenorroe/impotentie of laag libido en galactorroe."},"pt":{"name":"Deficiência pituitária por quistos da bolsa de Rathke"},"pl":{"name":"Niedoczynność przysadki spowodowana torbielą kieszonki Rathkego","definition":"Rzadki, nabyty niedobór hormonów przysadki mózgowej, charakteryzujący się jednoczesnym występowaniem bólu głowy, ubytków pola widzenia korelujących z rozmiarem torbieli oraz dysfunkcji przysadki. Najczęstsze objawy związane z zaburzeniami hormonalnymi to hipogonadyzm z brakiem miesiączki/impotencją lub obniżonym libido i mlekotok."},"cs":{"name":"Deficit hormonů hypofýzy způsobený cystami Rathkeho výchlipky"},"uk":{"name":"Гіпофізарний дефіцит внаслідок щілинних кіст Ратке","definition":"A rare, acquired pituitary hormone deficiency characterized by combination of headache, visual field defects that correlate with cyst size, and pituitary dysfunction. Most frequent hormonal manifestations are hypogonadism with amenorrhea/impotence or low libido and galactorrhea."},"zh":{"name":"Rathke囊肿所致腺垂体功能减退"},"tr":{"name":"Rathke yarık kistlerine bağlı hipofiz yetmezliği"}},"xrefs":[{"source":"ICD-10","code":"E23.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A61.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1350377567"},{"source":"MONDO","code":"0019614","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5190782","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95503,"name":"Pituitary hormone deficiency of tumoral origin","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_21951110[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-04-03","source":"15739543[PMID]_26305621[PMID]_20509729[PMID]_28272259[PMID]_22969141[PMID]_22336224[PMID]_22099688[PMID]_22336224[PMID]_14264977[PMID]","terms":[{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0030591","label":"Abnormal kinetic perimetry test","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030521","label":"Bitemporal hemianopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012505","label":"Enlarged pituitary gland","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000870","label":"Increased circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007924","label":"Slow decrease in visual acuity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000505","label":"Visual impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011735","label":"Adrenocorticotropin deficient adrenal insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000830","label":"Anterior hypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002315","label":"Headache","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002516","label":"Increased intracranial pressure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012246","label":"Oculomotor nerve palsy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007807","label":"Optic nerve compression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000871","label":"Panhypopituitarism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0430022","label":"Abnormality of the sphenoid sinus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000873","label":"Diabetes insipidus","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002170","label":"Intracranial hemorrhage","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004372","label":"Reduced consciousness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030907","label":"Thunderclap headache","frequency":"Very rare (<4-1%)","criteria":null}]}}