{"orpha":642691,"name":"Fragile X-associated primary ovarian insufficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FXPOI","Fragile X-associated POF","Fragile X-associated POI","Fragile X-associated premature ovarian failure","POF associated with fragile X premutation","POI associated with fragile X premutation","Premature ovarian failure associated with fragile X premutation","Primary ovarian insufficiency associated with fragile X premutation"],"definition":"A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in <i>FMR1</i> gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-642691/","orphanet_url":"https://www.orpha.net/en/disease/detail/642691","names":{"fr":{"name":"Insuffisance ovarienne précoce liée à la prémutation de l'X fragile","synonyms":["FXPOI","IOP liée à prémutation du X fragile","Insuffisance ovarienne primitive liée à prémutation du X fragile","Insuffisance ovarienne précoce liée à prémutation du X fragile"],"definition":"Insuffisance ovarienne précoce génétique rare, caractérisée par une diminution, une anomalie ou une perte de la fonction ovarienne avant l'âge de 40&nbsp;ans chez les femmes porteuses d'une prémutation du gène <i>FMR1</i>, définie comme une expansion de 55 à&nbsp;200 répétitions CGG dans la région&nbsp;5' non traduite du gène <i>FMR1</i>. Les signes cliniques comprennent des cycles menstruels irréguliers ou absents (aménorrhée), une ovulation irrégulière et un profil hormonal altéré (hypoestrogénie et taux élevés de gonadotrophine sérique) associés à la prémutation de l'X fragile. La plupart des patientes connaissent des problèmes de fertilité (subfertilité ou infertilité) et une ménopause précoce."},"de":{"name":"Fragiles X-assoziierte prämature Ovarialinsuffizienz","synonyms":["FXPOI","Fragiles X-assoziierte vorzeitige Ovarialinsuffizienz","Fragiles X-assoziiertes POF"],"definition":"Eine seltene Form der vorzeitigen Ovarialinsuffizienz, die durch eine verminderte, abnorme oder fehlende Ovarialfunktion bei Frauen vor dem 40. Lebensjahr gekennzeichnet, die eine Prämutation im <i>FMR1</i>-Gen tragen. Typisch ist eine Expansion von 55-200 CGG-Wiederholungen in der 5'-untranslatierten Region des <i>FMR1</i>-Gens. Zu den klinischen Merkmalen gehören unregelmäßige oder ausbleibende Menstruationszyklen (Amenorrhoe), ein unregelmäßiger Eisprung und ein verändertes Hormonprofil (Hypoöstrogenismus und erhöhte Gonadotropinspiegel im Serum). Die meisten Patientinnen haben Fruchtbarkeitsprobleme (Subfertilität oder Unfruchtbarkeit) und erleben eine frühe Menopause."},"es":{"name":"Insuficiencia ovárica primaria asociada al cromosoma X frágil","synonyms":["FOP asociado a una premutación del cromosoma X frágil","FOP asociado al cromosoma X frágil","Fallo ovárico precoz asociado a una premutación del cromosoma X frágil","Fallo ovárico precoz asociado al cromosoma X frágil","IOP asociada a una premutación del cromosoma X frágil","IOP asociada al cromosoma X frágil","Insuficiencia ovárica primaria asociada a una premutación del cromosoma X frágil"],"definition":"Es una insuficiencia ovárica precoz, de base genética y poco frecuente, caracterizada por una disminución, alteración o pérdida de la función ovárica antes de los 40 años de edad en mujeres que portan una premutación en el gen <i>FMR1</i>, definida como una expansión de 55 a 200 repeticiones CGG en la región no traducida 5' del gen <i>FMR1</i>. Las características clínicas incluyen ciclos menstruales irregulares o ausentes (amenorrea), ovulación irregular y perfil hormonal alterado (hipoestrogenismo y elevación de los niveles séricos de gonadotropinas) asociados a la premutación X frágil. La mayoría de las pacientes presenta problemas de fertilidad (subfertilidad o infertilidad) y experimenta una menopausia precoz."},"it":{"name":"Insufficienza ovarica primitiva correlata all'X fragile","synonyms":["FXPOI","Insufficienza ovarica precoce correlata all'X fragile","Insufficienza ovarica precoce correlata alla premutazione dell'X fragile","Insufficienza ovarica primaria correlata alla premutazione dell'X fragile","POF correlata all'X fragile","POF correlata alla premutazione dell'X fragile","POI correlata all'X fragile","POI correlata alla premutazione dell'X fragile"]},"nl":{"name":"Fragiele-X-geassocieerde primaire insufficiëntie van ovarium","synonyms":["FXPOI","Fragiele-X-geassocieerd POF","Fragiele-X-geassocieerd prematuur ovariumfalen","Fragiele-X-geassocieerde POI","POF geassocieerd met fragiele-X-premutatie","POI geassocieerd met fragiele-X-premutatie","Prematuur ovariumfalen geassocieerd met fragiele-X-premutatie","Primaire ovariële insufficiëntie geassocieerd met fragiele-X-premutatie"],"definition":"Een zeldzaam, genetisch prematuur ovariumfalen, gekenmerkt door verminderd, abnormaal of niet functioneren van ovaria voor de leeftijd van 40 jaar bij vrouwen met een premutatie in het gen <i>FMR1</i>, gedefinieerd als een expansie van 55-200 CGG-herhalingen in de 5' ongetransleerde regio van het gen <i>FMR1</i>. Klinische kenmerken zijn onder meer onregelmatige of afwezige menstruatiecyclus (amenorroe), onregelmatige ovulatie en gewijzigd hormoonprofiel (hypo-oestrogenisme, en verhoogde gonadotropinegehaltes in serum) geassocieerd met fragiele X-premutatie. De meeste patiënten hebben vruchtbaarheidsproblemen (verminderde fertiliteit of onvruchtbaarheid) en ondergaan vroege menopauze."},"pt":{"name":"Insuficiência ovárica primária associada ao X frágil","synonyms":["Falência ovárica prematura associada à pré-mutação de X frágil","Insuficiência ovárica primária associada à pré-mutação de X frágil","POF associada ao X frágil","POF associada à pré-mutação do X frágil","POI associada ao X frágil","POI associada à pré-mutação do X frágil","X frágil associado à falência ovárica prematura","X frágil associado à insuficiência ovárica primária"],"definition":"Falência prematura dos ovários de origem genética caracterizada pela diminuição, anomalia ou perda da função ovariana antes dos 40 anos em mulheres portadoras de uma pré-mutação no gene FMR1, definida como uma expansão de 55-200 repetições CGG na região 5' não traduzida do gene FMR1. As características clínicas incluem ciclos menstruais irregulares ou ausentes (amenorreia), ovulação irregular e perfil hormonal alterado (hipoestrogenismo e níveis elevados de gonadotrofina sérica) associados à pré-mutação do X frágil. A maioria das doentes tem problemas de fertilidade (subfertilidade ou infertilidade) e passa pela menopausa precoce."},"pl":{"name":"Pierwotna niewydolność jajników związana z zespołem łamliwego chromosomu X","synonyms":["FXPOI","Fragile X-associated POF","Fragile X-associated POI","Fragile X-associated premature ovarian failure","POF associated with fragile X premutation","POI associated with fragile X premutation","Premature ovarian failure associated with fragile X premutation","Primary ovarian insufficiency associated with fragile X premutation"],"definition":"Rzadka, genetycznie uwarunkowana przedwczesna niewydolność jajników, która charakteryzuje się osłabioną lub nieprawidłową funkcją jajników lub całkowitą utratą ich funkcji przed ukończeniem 40 roku życia u kobiet z premutacją w genie FMR1, definiowaną jako ekspansja 55-200 powtórzeń CGG w niekodującym regionie 5' genu FMR1. Objawy kliniczne obejmują nieregularne cykle menstruacyjne lub brak miesiączek, nieregularną owulację i zmieniony profil hormonalny (hipoestrogenizm i podwyższone poziomy gonadotropin w surowicy), co jest związane z premutacją w zespole łamliwego chromosomu X. U większości pacjentek występują problemy z płodnością (zmniejszona płodność lub bezpłodność) i wczesna menopauza."},"cs":{"name":"Primární ovariální insuficience spojená se syndromem fragilního X","synonyms":["FXPOI","Fragile X-associated POF","Fragile X-associated POI","Fragile X-associated premature ovarian failure","POF associated with fragile X premutation","POI associated with fragile X premutation","Premature ovarian failure associated with fragile X premutation","Primary ovarian insufficiency associated with fragile X premutation"]},"uk":{"name":"Первинна яєчникова недостатність, асоційована з ламкою Х-хромосомою","synonyms":["Ламка Х-асоційована POF","Ламка Х-асоційовані POI","Ламка Х-асоційована передчасна недостатність яєчників","FXPOI","POF, асоційована з ламкою Х-хромосомою","POI, асоційовані з ламкою Х-хромосомою","Передчасна оваріальна недостатність, повязана з ламкою Х-хромосомою","Первинна яєчникова недостатність, повязана з ламкою Х-хромосомою"],"definition":"A rare, genetic premature ovarian failure characterized by decreased, abnormal or loss of ovarian function prior to age 40 in women bearing a premutation in <i>FMR1</i> gene, defined as an expansion of 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Clinical features include irregular or absent menstrual cycles (amenorrhea), irregular ovulation and altered hormone profile (hypoestrogenism, and elevated serum gonadotropin levels) associated to fragile X premutation. Most of the patients have fertility problems (subfertility or infertility) and undergo early menopause."}},"xrefs":[{"source":"OMIM","code":"311360","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E28.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0010706","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4552079","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":485382,"name":"Rare genetic premature ovarian failure","classifications":[156]},{"orpha":95710,"name":"Rare non-acquired premature ovarian failure","classifications":[193,205]}],"children":[],"genes":[{"symbol":"FMR1","name":"fragile X messenger ribonucleoprotein 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"36447079[PMID]","hgnc":"3775","ensembl":"ENSG00000102081","omim":"309550","loci":["Xq27.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}