{"orpha":66633,"name":"Sensorineural hearing loss-early graying-essential tremor syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Sensorineural deafness-early graying-essential tremor syndrome"],"definition":"A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-66633/","orphanet_url":"https://www.orpha.net/en/disease/detail/66633","names":{"fr":{"name":"Syndrome de surdité neurosensorielle-grisonnement précoce-tremblement essentiel","definition":"Maladie génétique rare caractérisée par l'association d'une surdité neurosensorielle bilatérale, d'un grisonnement précoce des cheveux et d'un tremblement essentiel débutant à l'âge adulte se manifestant par des mouvements involontaires de la tête. Aucune autre anomalie de pigmentation n'a été rapportée dans le cadre de ce syndrome."},"de":{"name":"Sensorineurale Schwerhörigkeit-frühes Ergrauen-essentieller Tremor-Syndrom","synonyms":["Syndrom der Schallempfindungsschwerhörigkeit mit frühem Ergrauen und essentiellen Tremor"],"definition":"Eine seltene genetische Störung, die charakterisiert ist durch eine Trias aus mittelschwerer bis schwerer beidseitiger Schallempfindungsschwerhörigkeit, frühem Ergrauen der Kopfhaare und im Erwachsenenalter beginnendem essentiellen Tremor, der sich durch unwillkürliches Kopfschütteln äußert. Zusätzliche Pigmentierungsanomalien wurden bei diesem Syndrom nicht festgestellt."},"es":{"name":"Síndrome de hipoacusia neurosensorial-aparición temprana de canas-temblor esencial","synonyms":["Síndrome de sordera neurosensorial-canicie precoz-temblor esencial"],"definition":"Es una enfermedad de base genética poco frecuente caracterizada por la tríada de inicio en el adulto formada por pérdida auditiva neurosensorial bilateral de moderada a grave, encanecimiento prematuro del cabello y temblor esencial que se manifiesta como sacudidas involuntarias de la cabeza. No se han descrito anomalías de pigmentación adicionales en este síndrome."},"it":{"name":"Sordità neurosensoriale - incanutimento precoce - tremore essenziale","definition":"Si tratta di una malattia genetica rara caratterizzata dalla triade sordità neurosensoriale bilaterale moderata-grave ad esordio nell'età adulta, incanutimento precoce e tremore essenziale, che si manifesta con movimenti involontari della testa. I pazienti non presentano altre anomalie della pigmentazione."},"nl":{"name":"Sensorineuraal gehoorverlies - vroege vergrijzing - essentiële tremor-syndroom","definition":"Een zeldzame, genetische aandoening, gekarakteriseerd door de triade van in de volwassenheid aanvangend matig tot ernstig bilateraal sensorineuraal gehoorverlies, premature vergrijzing van haar van scalp, en essentiële tremor die zich manifesteert als onvrijwillig beven van hoofd. Bijkomende afwijkingen van pigmentatie werden niet gerapporteerd bij dit syndroom."},"pt":{"name":"Síndrome de perda auditiva neurossensorial-embranquecimento do cabelo precoce-tremor idiopático","synonyms":["Síndrome de surdez neurossensorial-embranquecimento do cabelo precoce-tremor idiopático"]},"pl":{"name":"Czuciowo-nerwowa utrata słuchu - przedwczesne siwienie - drżenie samoistne","synonyms":["Sensorineural deafness-early graying-essential tremor syndrome"]},"cs":{"name":"Syndrom zahrnující senzorineurální ztrátu sluchu, časné šedivění a esenciální tremor","synonyms":["Sensorineural deafness-early graying-essential tremor syndrome"]},"uk":{"name":"Синдром сенсоневральної втрати слуху-ранньої сивини-есенціального тремору","synonyms":["Синдром сенсоневральної глухоти - ранньої сивиниа - есенціального тремору"],"definition":"A rare genetic disease characterized by the triad of adult-onset moderate to severe bilateral sensorineural hearing loss, premature graying of scalp hair, and essential tremor manifesting as involuntary shaking of the head. Additional pigmentation abnormalities have not been reported in this syndrome."},"zh":{"name":"感音神经性听觉丧失-早期老龄化-特发性震颤综合征","synonyms":["感音神经性耳聋-昌年白发-特发性震颤综合征"]},"tr":{"name":"Sensörinöral işitme kaybı - erken yaşta grileşme esansiyel tremor sendromu","synonyms":["Sensörinöral sağırlık-erken grileşme-esansiyel tremor sendromu"]}},"xrefs":[{"source":"ICD-10","code":"H90.3","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"746190981"},{"source":"MONDO","code":"0019022","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510044","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98036,"name":"Rare otorhinolaryngologic disease"},"parents":[{"orpha":519296,"name":"Rare disorder with pigmented sclera","classifications":[156,189]},{"orpha":307061,"name":"Rare genetic tremor disorder","classifications":[156]},{"orpha":90642,"name":"Rare syndromic genetic deafness","classifications":[147,156,200]},{"orpha":306712,"name":"Rare tremor disorder","classifications":[181]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":3.0,"area":"Worldwide","status":"Validated","source":"16025060[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_16025060[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0000592","label":"Blue sclerae","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002216","label":"Premature graying of hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001100","label":"Heterochromia iridis","frequency":"Occasional (29-5%)","criteria":null}]}}