{"orpha":90646,"name":"Deafness-hypogonadism syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Hearing loss-hypogonadism syndrome"],"definition":"A rare syndromic genetic deafness characterized by progressive X-linked mixed deafness with with perilymphatic gusher, hypogonadism and abnormal behavior (including antisocial and immature behaviors). Partial heterochromia iridis may also be present in some patients. There have been no further descriptions in the literature since 1992.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90646/","orphanet_url":"https://www.orpha.net/en/disease/detail/90646","names":{"fr":{"name":"Syndrome de surdité-hypogonadisme","definition":"Surdité génétique syndromique rare caractérisée par une surdité mixte progressive liée à l'X, accompagnée d'une fistule périlymphatique, d'un hypogonadisme et des troubles du comportement (y compris des comportements antisociaux et immatures). Une hétérochromie partielle de l'iris peut également être présente chez certains patients. Aucun nouveau cas n'a été décrit dans la littérature depuis 1992."},"de":{"name":"Schwerhörigkeit-Hypogonadismus-Syndrom","definition":"Ein seltene X-chromosomale Form der Schwerhörigkeit, die durch fortschreitende gemischte Schwerhörigkeit mit perilymphatischem Gusher, Hypogonadismus und abnormalem Verhalten (einschließlich antisozialem und unreifem Verhalten) gekennzeichnet ist. Bei einigen Patienten kann auch eine partielle Heterochromie iridis vorliegen. Seit 1992 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de sordera-hipogonadismo","synonyms":["Síndrome de hipoacusia-hipogonadismo"],"definition":"Es una sordera sindrómica de origen genetico y poco frecuente caracterizada por sordera mixta progresiva ligada al cromosoma X con gusher perilinfático, hipogonadismo y conducta anómala (incluyendo comportamientos antisociales e inmaduros). Algunos pacientes pueden presentar heterocromía iridiscente parcial. No se han descrito más casos en la literatura desde 1992."},"it":{"name":"Sordità - ipogonadismo"},"nl":{"name":"Doofheid - hypogonadisme-syndroom","synonyms":["Gehoorverlies - hypogonadisme-syndroom"],"definition":"Een zeldzame syndromale genetische doofheid, gekenmerkt door progressieve X-gebonden gemengde doofheid met perilymfatische gusher, hypogonadisme en abnormaal gedrag (waaronder antisociaal en onvolwassen gedrag). Partiële heterochromie van iris kan ook aanwezig zijn bij sommige patiënten. Sinds 1992 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Surdez - hipogonadismo","definition":"Esta síndrome caracteriza-se pela associação de surdez mista congénita com gusher perilinfático (síndrome de Gusher ou DFN3; ver este termo), hipogonadismo e comportamento anormal."},"pl":{"name":"Głuchota - hipogonadyzm","synonyms":["Hearing loss-hypogonadism syndrome"]},"cs":{"name":"Syndrom zahrnující hluchotu a hypogonadismus","synonyms":["Hearing loss-hypogonadism syndrome"]},"uk":{"name":"Синдром глухоти-гіпогонадизму","synonyms":["Синдром втрати слуху-гіпогонадизму"],"definition":"A rare form of syndromic genetic deafness characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3), hypogonadism and abnormal behavior."},"zh":{"name":"耳聋-性腺功能减退综合征","synonyms":["听觉丧失-性腺功能减退综合征"]},"tr":{"name":"Sağırlık-hipogonadizm sendromu","synonyms":["İşitme kaybı-hipogonadizm sendromu"]}},"xrefs":[{"source":"OMIM","code":"304350","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"H90.6","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"2005411098"},{"source":"MONDO","code":"0010575","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C564435","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1844680","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"1691","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":181441,"name":"Rare disorder with hypergonadotropic hypogonadism","classifications":[156,193,201]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":5.0,"area":"Worldwide","status":"Validated","source":"6819099[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"6819099[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-02-22","source":"19438930[PMID]_20412083[PMID]_7839145[PMID]_1922747[PMID]_5442491[PMID]_6819099[PMID]_1683204[PMID]_1609803[PMID]","terms":[{"hpo":"HP:0008669","label":"Abnormal spermatogenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011384","label":"Abnormality of the internal auditory canal","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","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:0011388","label":"Enlarged cochlear aqueduct","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000408","label":"Progressive sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012717","label":"Severe conductive hearing impairment","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000381","label":"Stapes ankylosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007642","label":"Congenital stationary night blindness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000286","label":"Epicanthus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000316","label":"Hypertelorism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100503","label":"Low levels of vitamin B1","frequency":"Occasional (29-5%)","criteria":null}]}}