{"orpha":566231,"name":"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["RTHa","Resistance to thyroid hormone alpha","Resistance to thyroid hormone due to a mutation in TRa"],"definition":"A rare thyroid hormone signaling disorder characterized by a reduced T4/T3 ratio and normal levels of thyroid-stimulating hormone. The clinical phenotype variably includes neurodevelopmental delay (motor and cognitive), chronic constipation, anemia, disproportionate short stature and delayed bone age, skin tags, decreased metabolic rate, mild bradycardia, delayed teeth eruption and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, coarse facies, flattened nasal bridge, macroglossia, and thick lips can be present. Disease manifestations may vary from very mild to severe.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-566231/","orphanet_url":"https://www.orpha.net/en/disease/detail/566231","names":{"fr":{"name":"Résistance aux hormones thyroïdiennes par mutations du récepteur aux hormones thyroïdiennes alpha","synonyms":["RTHa","Résistance aux hormones thyroïdiennes alpha","Résistance aux hormones thyroïdiennes par mutations de TRa"],"definition":"Hypothyroïdie congénitale primaire rare caractérisée par un ratio T4/T3 nettement réduit, des taux normaux de thyréostimuline et un phénotype clinique très variable comprenant, le plus souvent, une réduction du métabolisme, une bradycardie, une constipation chronique, un retard de développement neurologique, un retard de l'âge osseux et des anomalies squelettiques. Une dysmorphie craniofaciale a également été rapportée (macrocéphalie, visage large, nez plat, langue large et lèvres épaisses). Certains patients ne présentent que de légers signes et symptômes."},"de":{"name":"Resistenz gegen Schilddrüsenhormone durch Mutation im Thyroidhormonrezeptor alpha","synonyms":["RTHa","Resistenz gegen Schilddrüsenhormone durch Mutation im TRa","Resistenz gegen Thyroidhormon alpha"],"definition":"Eine seltene primäre kongenitale Hypothyreose, die durch ein deutlich reduziertes T4/T3-Verhältnis, normale Werte des schilddrüsenstimulierenden Hormons und einen sehr variablen klinischen Phänotyp gekennzeichnet ist, der am häufigsten eine verringerte Stoffwechselrate, Bradykardie, chronische Verstopfung, neurologische Entwicklungsverzögerung sowie ein verzögertes Knochenalter und Skelettanomalien umfasst. Dysmorphe kraniofaziale Merkmale wie Makrozephalie, breites Gesicht, flache Nase, große Zunge und dicke Lippen wurden ebenfalls berichtet. Einige Patienten zeigen nur minimale Anzeichen und Symptome."},"es":{"name":"Resistencia a la hormona tiroidea por una mutación en el receptor alfa de hormona tiroidea","synonyms":["RTHa","Resistencia a la hormona tiroidea por una mutación en TRa"],"definition":"Es una forma poco frecuente de hipotiroidismo congénito primario que se caracteriza por una relación T4/T3 notablemente reducida, niveles normales de hormona estimulante de la tiroides y un fenotipo clínico altamente variable, que suele incluir disminución de la tasa metabólica, bradicardia, estreñimiento crónico, retraso del neurodesarrollo, retraso en la edad ósea y anomalías esqueléticas. También se ha descrito rasgos craneofaciales dismórficos, como macrocefalia, cara ancha, nariz plana, lengua agrandada y labios gruesos. Algunos pacientes pueden mostrar sólo signos y síntomas mínimos."},"it":{"name":"Resistenza all'ormone tiroideo da mutazione nel recettore dell'ormone tiroideo alfa","synonyms":["RTHa","Resistenza all'ormone tiroideo alfa","Resistenza all'ormone tiroideo da mutazione di TRa"],"definition":"Si tratta di un ipotiroidismo congenito primitivo raro, caratterizzato da un rapporto T4/T3 molto ridotto, livelli normali dell'ormone tireostimolante e un fenotipo clinico molto variabile, che di solito comprende un metabolismo ridotto, bradicardia, costipazione cronica, ritardo dello sviluppo neurologico, ritardo dell'età ossea e anomalie scheletriche. I pazienti possono presentare anche dismorfismi craniofacciali (macrocefalia, viso largo, naso piatto, lingua grande e labbra spesse). Alcuni pazienti presentano segni clinici minimi."},"nl":{"name":"Resistentie tegen thyroïdhormoon door een mutatie in thyroïdhormoonreceptor-alfa","synonyms":["RTHa","Resistentie tegen thyroïdhormoon door een mutatie in TRa","Resistentie tegen thyroïdhormoon-alfa"],"definition":"Een zeldzame primaire congenitale hypothyreoïdie, gekarakteriseerd door een aanzienlijk gereduceerde T4/T3-verhouding, normale gehaltes van thyroïdstimulerend hormoon, en een zeer variabel klinisch fenotype, dat meestal bestaat uit traag metabolisme, bradycardie, chronische constipatie, neurologische ontwikkelingsachterstand, en vertraagde botmaturatie en skeletanomalieën. Dysmorfe craniofaciale kenmerken, zoals macrocefalie, breed aangezicht, platte neus, grote tong, en dikke lippen, werden ook reeds gerapporteerd. Sommige patiënten vertonen mogelijk slechts minimale verschijnselen en symptomen."},"pt":{"name":"Resistência a levotiroxina por mutação no recetor alfa da hormona tiroideia"},"pl":{"name":"Oporność na hormon tarczycy spowodowana mutacją receptora alfa hormonu tarczycy","synonyms":["Oporność na hormon tarczycy alpha","Oporność na hormon tarczycy z powodu mutacji w TRa"]},"cs":{"name":"Rezistence na hormony štítné žlázy způsobené mutací v receptoru alfa pro hormony štítné žlázy","synonyms":["RTHa","Resistance to thyroid hormone alpha","Resistance to thyroid hormone due to a mutation in TRa"]},"uk":{"name":"Резистентність до гормонів щитовидної залози, зумовлена мутацією в рецепторі альфа-гормону щитовидної залози","synonyms":["Резистентність до альфа-гормону щитовидної залози","Резистентність до гормонів щитовидної залози через мутацію в TRa","RTHa"],"definition":"A rare primary congenital hypothyroidism characterized by a markedly reduced T4/T3 ratio, normal levels of thyroid-stimulating hormone, and a highly variable clinical phenotype, which most commonly includes decreased metabolic rate, bradycardia, chronic constipation, neurodevelopmental delay, and delayed bone age and skeletal abnormalities. Dysmorphic craniofacial features, such as macrocephaly, broad face, flat nose, large tongue, and thick lips, have also been reported. Some patients may show only minimal signs and symptoms."},"zh":{"name":"甲状腺激素受体α突变所致甲状腺激素的抵抗","synonyms":["甲状腺激素α抵抗"]},"tr":{"name":"Tiroid hormonu reseptör alfa mutasyona bağlı olarak tiroid hormonuna direnç","synonyms":["TRa'daki mutasyona bağlı tiroid hormonuna direnç","RTHa","Tiroid hormonu alfa direnci"]}},"xrefs":[{"source":"OMIM","code":"614450","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.00","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0034216","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680127","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":97927,"name":"OBSOLETE: Peripheral resistance to thyroid hormones","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":"THRA","name":"thyroid hormone receptor alpha","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"25670821[PMID]","hgnc":"11796","ensembl":"ENSG00000126351","omim":"190120","loci":["17q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"30842990[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_30842990[PMID]"}],"phenotypes":null}