{"orpha":566243,"name":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RTHb","Resistance to thyroid hormone beta","Resistance to thyroid hormone due to a mutation in TRb"],"definition":"A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566243/","orphanet_url":"https://www.orpha.net/en/disease/detail/566243","names":{"fr":{"name":"Résistance aux hormones thyroïdiennes par mutation du récepteur aux hormones thyroïdiennes bêta","synonyms":["RTHb","Résistance aux hormones thyroïdiennes bêta","Résistance aux hormones thyroïdiennes par mutations de TRb"],"definition":"Hyperthyroïdie génétique rare caractérisée par des taux élevés d'hormones thyroïdiennes libres circulantes, des taux normaux ou élevés de thyréostimuline, une diminution de la réponse des tissus périphériques à l'action de l'iodothyronine et un phénotype clinique très variable comprenant, le plus souvent, un goitre, une tachycardie de repos, une ostéoporose, une petite taille et un trouble du déficit de l'attention. Certains patients peuvent être asymptomatiques."},"de":{"name":"Resistenz gegen Schilddrüsenhormone durch Mutation im Thyroidhormonrezeptor beta","synonyms":["RTHb","Resistenz gegen Schilddrüsenhormone durch Mutation im TRb","Resistenz gegen Thyroidhormon beta"],"definition":"Eine seltene genetisch bedingte Hyperthyreose, die sich durch erhöhte Konzentrationen zirkulierender freier Schilddrüsenhormone, normales oder erhöhtes schilddrüsenstimulierendes Hormon, verringerte Reaktionen des peripheren Gewebes auf die Jodthyroninwirkung und einen sehr variablen klinischen Phänotyp auszeichnet, der am häufigsten Struma, Ruhetachykardie, Osteoporose, Kleinwuchs und Aufmerksamkeitsstörungen umfasst. Einige Patienten können völlig asymptomatisch sein."},"es":{"name":"Resistencia a la hormona tiroidea por una mutación en el receptor beta de hormona tiroidea","synonyms":["RTHb","Resistencia a la hormona tiroidea por una mutación en TRb"],"definition":"Es una forma poco frecuente de hipertiroidismo de base genética que se caracteriza por niveles elevados de hormonas tiroideas circulantes libres, hormona estimulante de la tiroides normal o elevada, disminución de la respuesta de los tejidos periféricos a la acción de la yodotironina y un fenotipo clínico muy variable que suele incluir bocio, taquicardia en reposo, osteoporosis, talla baja y déficit de atención. Algunos pacientes pueden permanecer completamente asintomáticos."},"it":{"name":"Resistenza all'ormone tiroideo da mutazione nel recettore dell'ormone tiroideo beta","synonyms":["RTHb","Resistenza all'ormone tiroideo beta","Resistenza all'ormone tiroideo da mutazione in TRb"],"definition":"Si tratta di un ipertiroidismo genetico raro, caratterizzato da livelli elevati degli ormoni tiroidei liberi circolanti, livelli normali o elevati dell'ormone tireostimolante, una riduzione della risposta dei tessuti periferici all'azione della iodotironina, e un quadro clinico molto variabile che di solito comprende il gozzo, la tachicardia a riposo, l'osteoporosi, la bassa statura e il deficit di attenzione. Alcuni pazienti sono del tutto asintomatici."},"nl":{"name":"Resistentie tegen thyroïdhormoon door een mutatie in thyroïdhormoonreceptor-bèta","synonyms":["RTHb","Resistentie tegen thyroïdhormoon door een mutatie in TRb","Resistentie tegen thyroïdhormoon-bèta"],"definition":"Een zeldzame, genetische hyperthyreoïdie, gekarakteriseerd door verhoogde gehaltes van circulerende vrije schildklierhormonen, normaal of verhoogd gehalte van thyroïdstimulerend hormoon, verminderde respons van perifeer weefsel op de actie van jodothyronine, en een zeer variabel klinisch fenotype dat meestal struma, tachycardie in rust, osteoporose, kleine gestalte, en aandachtsdeficiëntiestoornis omvat. Sommige patiënten kunnen volledig asymptomatisch zijn."},"pt":{"name":"Resistência a levotiroxina por mutação no recetor beta da hormona tiroideia"},"pl":{"name":"Oporność na hormon tarczycy spowodowana mutacją receptora beta tarczycy","synonyms":["Oporność na hormon tarczycy beta","Oporność na hormon tarczycy z powodu mutacji w TRb"]},"cs":{"name":"Rezistence na hormony štítné žlázy způsobené mutací v receptoru beta pro hormony štítné žlázy","synonyms":["RTHb","Resistance to thyroid hormone beta","Resistance to thyroid hormone due to a mutation in TRb"]},"uk":{"name":"Резистентність до гормонів щитовидної залози, зумовлена мутацією бета-рецепторів гормонів щитовидної залози","synonyms":["Резистентність до гормону щитовидної залози бета","Резистентність до гормонів щитовидної залози через мутацію в TRb","RTHb"],"definition":"A rare genetic hyperthyroidism characterized by elevated levels of circulating free thyroid hormones, normal or elevated thyroid-stimulating hormone, decreased peripheral tissue responses to iodothyronine action, and a highly variable clinical phenotype which most commonly includes goiter, resting tachycardia, osteoporosis, short stature, and attention deficit disorder. Some patients may be entirely asymptomatic."},"zh":{"name":"甲状腺激素受体β突变所致甲状腺激素的抵抗","synonyms":["甲状腺激素β抵抗"]},"tr":{"name":"Tiroid hormonu reseptörü betadaki mutasyona bağlı tiroid hormonuna direnç","synonyms":["TRb'deki mutasyona bağlı tiroid hormonuna direnç","RTHb","Tiroid hormonu beta'ya direnç"]}},"xrefs":[{"source":"OMIM","code":"145650","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"188570","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"274300","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1297297708"},{"source":"MONDO","code":"0034217","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1840364","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Moved to","orpha":3221,"name":"Generalized resistance to thyroid hormone","status":"inactive"},{"type":"Moved to","orpha":165994,"name":"Pituitary resistance to thyroid hormone","status":"inactive"}],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":596426,"name":"Syndrome of reduced sensitivity to thyroid hormone","classifications":[156,193]}],"children":[],"genes":[{"symbol":"THRB","name":"thyroid hormone receptor beta","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"30976996[PMID]","hgnc":"11799","ensembl":"ENSG00000151090","omim":"190160","loci":["3p24.2"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"United States","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Japan","status":"Validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.47,"area":"United States","status":"Validated","source":"14517508[PMID]_31149222[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Japan","status":"Validated","source":"ORPHANET_19542904[PMID]_31149222[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-09-30","source":"25905160[PMID]_29892828[PMID]","terms":[{"hpo":"HP:0000853","label":"Goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033075","label":"Inappropriately normal thyroid-stimulating hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033077","label":"Increased circulating free T4 concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001649","label":"Tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0032069","label":"Anti-thyroglobulin antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002750","label":"Delayed skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0034288","label":"Elevated circulating reverse T3 concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011788","label":"Increased circulating free T3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000403","label":"Recurrent otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025484","label":"Increased circulating thyroglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001530","label":"Mild postnatal growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031098","label":"Decreased thyroid-stimulating hormone level","frequency":"Excluded (0%)","criteria":null}]}}