{"orpha":3225,"name":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome","type":"Malformation syndrome","group":"Disorder","status":"historical","flags":[],"synonyms":["Tungland-Bellman syndrome"],"definition":"A rare endocrine disease characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. There have been no further descriptions in the literature since 1990.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-3225/","orphanet_url":"https://www.orpha.net/en/disease/detail/3225","names":{"fr":{"name":"Syndrome de surdité-insensibilité familiale des glandes salivaires à l'aldostérone","synonyms":["Syndrome de Tungland-Bellman"],"definition":"Maladie endocrinienne rare caractérisée par une surdité neuro-sensorielle bilatérale modérée à sévère et par une insensibilité familiale des glandes salivaires à l'aldostérone, entraînant une hyponatrémie. Aucun nouveau cas n'a été décrit dans la littérature depuis 1990."},"de":{"name":"Syndromaler Hörverlust mit familiärer Aldosteron-Insensibilität der Speicheldrüsen","synonyms":["Tungland-Bellman-Syndrom"],"definition":"Eine seltene endokrine Erkrankung, die durch beidseitigen mittelschweren bis schweren sensorineuralen Hörverlust und eine Unempfindlichkeit der Speicheldrüsen gegenüber Aldosteron gekennzeichnet ist, was zu einer Hyponatriämie führt. Seit 1990 gibt es keine weiteren Beschreibungen in der Literatur."},"es":{"name":"Síndrome de hipoacusia-insensibilidad a la aldosterona de la glándula salivar, familiar","synonyms":["Síndrome de Tunglang-Bellman"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por hipoacusia neurosensorial bilateral de moderada a grave e insensibilidad de las glándulas salivales a la aldosterona, lo que resulta en hiponatremia. No se han descrito más casos en la literatura desde 1990."},"it":{"name":"Sordità - insensibilità familiare delle ghiandole salivari all'aldosterone","synonyms":["Sindrome di Tunglang-Bellman"]},"nl":{"name":"Gehoorverlies - familiale insensitiviteit van speekselklier voor aldosteron-syndroom","synonyms":["Gehoorverlies - familiale ongevoeligheid van speekselklier voor aldosteron-syndroom","Syndroom van Tungland-Bellman"],"definition":"Een zeldzame endocriene aandoening, gekenmerkt door bilateraal, matig tot ernstig sensorineuraal gehoorverlies, en ongevoeligheid van speekselklieren voor aldosteron die resulteert in hyponatriëmie. Sinds 1990 zijn er geen bijkomende beschrijvingen in de literatuur."},"pt":{"name":"Síndrome de perda auditiva-insensibilidade da glândula salivar à aldosterona familiar","synonyms":["Síndrome Tungland-Bellman"]},"pl":{"name":"Utrata słuchu - rodzinna niewrażliwość ślinianek na aldosteron","synonyms":["Zespół Tunglanda i Bellmana"]},"cs":{"name":"Syndrom zahrnující ztrátu sluchu a familiární necitlivost slinných žláz k aldosteronu","synonyms":["Tunglandův-Bellmanův syndrom","Tungland-Bellmanův syndrom"]},"uk":{"name":"Синдром втрати слуху-сімейна нечутливості слинних залоз до альдостерону","synonyms":["Синдром Тунгланда-Беллмана"],"definition":"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome is characterised by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. It has been described in two brothers. Transmission appeared to be autosomal recessive."},"zh":{"name":"听觉丧失-家族性唾液腺醛固酮抵抗综合征","synonyms":["Tungland-Bellman综合征"]},"tr":{"name":"İşitme kaybı-ailesel tükürük bezi aldosteron sendromuna duyarsızlık","synonyms":["Tungland-Bellman sendromu"]}},"xrefs":[{"source":"ICD-10","code":"E34.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"LD2H.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1480894796"},{"source":"MONDO","code":"0017921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274756","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"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":2.0,"area":"Worldwide","status":"Validated","source":"2280149[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"2280149[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0010286","label":"Abnormal salivary gland morphology","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002902","label":"Hyponatremia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very frequent (99-80%)","criteria":null}]}}