{"orpha":137631,"name":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-137631/","orphanet_url":"https://www.orpha.net/en/disease/detail/137631","names":{"fr":{"name":"Syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX","definition":"Le syndrome de fibrose pulmonaire-déficit immunitaire-dysgénésie gonadique 46,XX se caractérise par un déficit immunitaire, une dysgénésie gonadique et une fibrose pulmonaire létale. Il a été décrit chez deux soeurs, nées de parents consanguins.Elles ont toutes deux un caryotype normal (46, XX). Aucune anomalie génétique n'a pu être identifiée par hybridation comparative de leurs génomes ou par l'analyse de séquences de gènes déjà associés à ce type d'anomalies."},"de":{"name":"Lungenfibrose-Immundefekt-46,XX-Gonadendysgenesie-Syndrom","definition":"Dieses Syndrom ist gekennzeichnet durch Immundefizienz, Gonadendysgenesie und letale Lungenfibrose."},"es":{"name":"Síndrome de fibrosis pulmonar-inmunodeficiencia-disgenesia gonadal 46,XX","definition":"Este síndrome se caracteriza por deficiencia inmunitaria, disgenesia gonadal y fibrosis pulmonar fatal. Hasta el momento, ha sido descrito en dos hermanas nacidas de padres consanguíneos. Los cariotipos de ambas fueron normales (46,XX). No se detectó ninguna anomalía genética por hibridación comparativa de sus genomas o por análisis de los genes conocidos asociados a ese tipo a anomalías."},"it":{"name":"Fibrosi polmonare - immunodeficienza - disgenesia gonadica"},"nl":{"name":"Longfibrose - immuundeficiëntie - 46,XX gonadale dysgenesie-syndroom","definition":"Een syndroom, gekenmerkt door immuundeficiëntie, gonadale dysgenesie, en fatale longfibrose. Tot op heden werd longfibrose - immuundeficiëntie - 46,XX gonadale dysgenesie-syndroom beschreven bij twee zussen van bloedverwante ouders. Beide karyotypes waren normaal vrouwelijk (46,XX). Er werden geen genetische anomalieën geïdentificeerd bij analyse van hun genoom met behulp van vergelijkende genoomhybridisatie of door analyse van genen waarvan geweten is dat ze geassocieerd zijn met deze types van anomalieën."},"pt":{"name":"Síndrome de fibrose pulmonar-imunodeficiência-disgenesia gonadal 46,XX","definition":"Esta síndrome é caracterizada por deficiência imune, disgenesia gonadal, e fibrose pulmonar fatal."},"pl":{"name":"Włóknienie płuc - Niedobór odporności - dysgenezja gonad z kariotypem 46,XX"},"cs":{"name":"Syndrom zahrnující plicní fibrózu, imunodeficienci a 46,XX gonadální dysgenezi"},"uk":{"name":"Синдром фіброзу легень-імунодефіциту-46,XX дисгенезії гонад","definition":"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome is characterised by immune deficiency, gonadal dysgenesis and fatal lung fibrosis. So far, it has been described in two sisters born to consanguineous parents. Both karyotypes were normal female (46,XX). No genetic anomalies could be identified by comparative genome hybridization analysis of their genomes or by analysis of genes known to be associated with these types of anomalies."},"zh":{"name":"肺纤维化-免疫缺陷-46，XX性腺发育不全综合征","definition":"肺纤维化-免疫缺陷-46,XX性腺发育不良综合征的特征是免疫缺陷，性腺发育不良和致命的肺纤维化。到目前为止，它已经被描述在两个姐妹出生的血亲父母。两组核型均为正常女性(46,XX)。通过对其基因组的比较基因组杂交分析或已知与这些类型的异常有关的基因分析，无法识别遗传异常。"},"tr":{"name":"Akciğer fibrozu-immün yetmezlik-46, XX gonadal disgenezi sendromu"}},"xrefs":[{"source":"OMIM","code":"611926","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"D82.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"4A00.2","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"620905911"},{"source":"MONDO","code":"0012757","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4302919","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97955,"name":"Rare respiratory disease"},"parents":[{"orpha":264992,"name":"Genetic interstitial lung disease","classifications":[156]},{"orpha":264665,"name":"Primary interstitial lung disease specific to childhood","classifications":[184,233]},{"orpha":325109,"name":"Syndrome with 46,XX difference of sex development","classifications":[147,156,185,193]},{"orpha":325638,"name":"Syndrome with difference of sex development of gynecological interest","classifications":[156,205]},{"orpha":317416,"name":"T-B+ severe combined immunodeficiency","classifications":[156,195,233]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"17937424[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_17937424[PMID]"}],"phenotypes":null}