{"orpha":2410,"name":"Hypergonadotropic hypogonadism-cataract syndrome","type":"Malformation syndrome","group":"Disorder","status":"active","flags":[],"synonyms":["Lubinsky syndrome"],"definition":"A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2410/","orphanet_url":"https://www.orpha.net/en/disease/detail/2410","names":{"fr":{"name":"Syndrome d'hypogonadisme hypergonadotrope-cataracte","synonyms":["Syndrome de Lubinsky"],"definition":"Ce syndrome est caractérisé par l'association d'un hypogonadisme hypergonadotrope et une cataracte débutant à l'adolescence."},"de":{"name":"Hypergonadotroper Hypogonadismus-Katarakt-Syndrom","synonyms":["Hypogonadismus - Katarakt"],"definition":"Eine seltene syndromale endokrine Erkrankung, die gekennzeichnet ist durch hypergonadotropen Hypogonadismus und in der Adoleszenz auftretender Katarakt."},"es":{"name":"Síndrome de hipogonadismo hipergonadotrópico-cataratas","synonyms":["Síndrome de Lubinsky"],"definition":"Es una enfermedad endocrina sindrómica poco frecuente caracterizada por la asociación de hipogonadismo hipergonadotrópico y cataratas, de inicio en la adolescencia."},"it":{"name":"Sindrome ipogonadismo ipergonadotropo-cataratta","synonyms":["Sindrome di Lubinsky"]},"nl":{"name":"Hypergonadotroop hypogonadisme - cataract-syndroom","synonyms":["Syndroom van Lubinsky"],"definition":"Een zeldzame syndromale endocriene aandoening, gekenmerkt door de associatie van hypergonadotroop hypogonadisme en cataract met aanvang in de adolescentie."},"pt":{"name":"Síndrome de hipogonadismo hipergonadotrópico-catarata","synonyms":["Síndrome Lubinsky"],"definition":"Doença endócrina sindromática rara caracterizada pela associação de hipogonadismo hipergonadotrópico e cataratas com início na adolescência."},"pl":{"name":"Zespół hipogonadyzmu hipergonadotropowego i zaćmy","synonyms":["Zespół Lubinsky'ego"]},"cs":{"name":"Syndrom zahrnující hypergonadotropní hypogonadismus a katarakta","synonyms":["Lubinského syndrom"]},"uk":{"name":"Синдром гіпергонадотропного гіпогонадизму - катаракти","synonyms":["Синдром Любінського"],"definition":"A rare syndromic endocrine disease characterized by the association of hypergonadotropic hypogonadism and cataracts with onset during adolescence."},"zh":{"name":"促性腺激素分泌过多性腺机能减退-白内障综合征","synonyms":["Lubinsky综合征"]},"tr":{"name":"Hipergonadotropik hipogonadizm-katarakt sendromu","synonyms":["Lubinsky sendromu"]}},"xrefs":[{"source":"OMIM","code":"240950","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E29.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009417","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C543092","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1855859","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"298","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":98641,"name":"Syndromic cataract","classifications":[189]},{"orpha":522548,"name":"Syndromic genetic cataract","classifications":[156]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"6418006[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_6418006[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2017-05-01","source":"6418006[PMID]","terms":[{"hpo":"HP:0000518","label":"Cataract","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0008187","label":"Absence of secondary sex characteristics","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000823","label":"Delayed puberty","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000837","label":"Increased circulating gonadotropin level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000939","label":"Osteoporosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000786","label":"Primary amenorrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008240","label":"Secondary growth hormone deficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002757","label":"Recurrent fractures","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null}]}}