{"orpha":238670,"name":"Isolated thyrotropin-releasing hormone deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Isolated TRF deficiency","Isolated TRH deficiency","Isolated TSH-releasing factor deficiency","Isolated prothyroliberin deficiency","Isolated protirelin deficiency","Isolated thyroliberin deficiency","Isolated thyrotropin-releasing factor deficiency"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-238670/","orphanet_url":"https://www.orpha.net/en/disease/detail/238670","names":{"fr":{"name":"Déficit isolé en hormone de libération de la thyrotropine","synonyms":["Déficit isolé en TRF","Déficit isolé en TRH","Déficit isolé en facteur de libération de la TSH","Déficit isolé en prothyrolibérine","Déficit isolé en protiréline","Déficit isolé en thyrolibérine"]},"de":{"name":"Thyrotropin-Releasing-Hormon (TRH)-Mangel, isolierter","synonyms":["Prothyroliberin-Mangel, isolierter","Protirelin-Mangel, isolierter","TRF-Mangel, isolierter","TRH-Mangel, isolierter","Thyroliberin-Mangel, isolierter"]},"es":{"name":"Deficiencia aislada de hormona liberadora de tirotropina","synonyms":["Deficiencia aislada de TRF","Deficiencia aislada de TRH","Deficiencia aislada de factor liberador de TSH","Deficiencia aislada de factor liberador de tirotropina","Deficiencia aislada de pro-tiroliberina","Deficiencia aislada de protirelina","Deficiencia aislada de tiroliberina"]},"it":{"name":"Deficit isolato dell'ormone di rilascio della tireotropina","synonyms":["Deficit isolato del fattore di rilascio della tireotropina","Deficit isolato del fattore di rilascio di TSH","Deficit isolato di TRF","Deficit isolato di TRH","Deficit isolato di protirelina","Deficit isolato di protireoliberina","Deficit isolato di tireoliberina"]},"nl":{"name":"Geïsoleerde deficiëntie van thyrotropinevrijmakend hormoon","synonyms":["Geïsoleerde deficiëntie van prothyroliberine","Geïsoleerde deficiëntie van protireline","Geïsoleerde deficiëntie van thyroliberine","Geïsoleerde deficiëntie van thyrotropine-'releasing' factor","Geïsoleerde prothyroliberineGeïsoleerde deficiëntie van TSH-vrijmakende factor","Geïsoleerde TRF-deficiëntie","Geïsoleerde TRH-deficiëntie","Geïsoleerde deficiëntie van TSH-'releasing' factor","Geïsoleerde deficiëntie van TSH-vrijmakende factor"]},"pt":{"name":"Deficiência de hormona libertadora de tireotropina isolada"},"pl":{"name":"Izolowany Niedobór czynnika uwalniającego tyreotropinę","synonyms":["Izolowany Niedobór czynnika uwalniającego TSH","Izolowany Niedobór czynnika uwalniającego tyreotropinę","Izolowany Niedobór protyreliny","Izolowany Niedobór protyreoliberyny","Izolowany Niedobór TRF","Izolowany Niedobór TRH","Izolowany Niedobór tyreoliberyny"]},"cs":{"name":"Izolovaný deficit hormonu produkujícího thyrotropin","synonyms":["Izolovaný deficit TRF","Izolovaný deficit TRH","Izolovaný deficit faktoru produkujícího TSH","Izolovaný deficit prothyroliberinu","Izolovaný deficit protirelinu","Izolovaný deficit thyroliberinu","Izolovaný deficit faktoru produkujícího thyrotropin"]},"uk":{"name":"Ізольований дефіцит тиреотропного гормону","synonyms":["Ізольований дефіцит протіроліберину","Ізольований дефіцит протіреліну","Ізольований дефіцит тироліберину","Ізольований дефіцит тиреотропного рилізинг-фактора","Ізольований дефіцит ТРФ","Ізольований дефіцит ТРГ","Ізольований дефіцит ТТГ-рилізинг-фактора"]},"zh":{"name":"孤立性促甲状腺激素释放激素缺乏症","synonyms":["孤立性促甲状腺激素释放激素缺乏症"]},"tr":{"name":"İzole tirotropin-salgılayan hormon eksikliği","synonyms":["İzole TRF eksikliği","İzole TRH eksikliği","İzole protirelin eksikliği","İzole tiroliberin eksikliği","İzole protiroliberin eksikliği","İzole TSH-salgılayan faktör eksikliği","İzole tirotropin-salgılayan faktör eksikliği"]}},"xrefs":[{"source":"OMIM","code":"275120","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1924452481"},{"source":"MONDO","code":"0010140","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0271585","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":226298,"name":"Central congenital hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"TRH","name":"thyrotropin releasing hormone","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"20687402[PMID]","hgnc":"12298","ensembl":"ENSG00000170893","omim":"613879","loci":["3q22.1"]}],"genes_via_subtypes":[],"inheritance":["Unknown"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":null}