{"orpha":90673,"name":"Hypothyroidism due to TSH receptor mutations","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-90673/","orphanet_url":"https://www.orpha.net/en/disease/detail/90673","names":{"fr":{"name":"Hypothyroïdie par mutation du récepteur de la TSH","definition":"L'hypothyroïdie par mutations du récepteur de la TSH (<i>thyroid stimulating hormone</i>) est une forme d'hypothyroïdie congénitale primitive , une insuffisance permanente en hormones thyroïdiennes présente à la naissance, qui est due à une résistance thyroïdienne à la TSH."},"de":{"name":"Hypothyreose durch TSH-Rezeptor-Genmutationen","definition":"Die durch Mutationen des Rezeptors des schilddüsen-stimulierenden Hormons (Thyreotropin, TSH) verursachte Hypothyreose ist ein Typ von primärer kongenitaler Hypothyreose (s. dort), einem von Geburt an bestehendem permanentem Schilddrüsenhormon-Mangel durch Resistenz der Schilddrüse gegen TSH."},"es":{"name":"Hipotiroidismo por mutaciones en el receptor de la TSH","definition":"Es un tipo de hipotiroidismo primario congénito, un déficit permanente de hormonas tiroideas presente desde el nacimiento, debido a una resistencia tiroidea a la TSH."},"it":{"name":"Ipotiroidismo da mutazioni del recettore di TSH"},"nl":{"name":"Hypothyreoïdie door mutaties in TSH-receptor","definition":"Een type van primaire congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is van bij de geboorte als gevolg van resistentie van de schildklier tegen TSH."},"pt":{"name":"Hipotiroidismo por mutações no recetor da TSH","definition":"O hipotireoidismo por mutações no receptor da hormona estimuladora da tireóide (TSH) é um tipo de hipotireoidismo primário congénito (ver este termo), uma deficiência permanente da hormona tireóidea que está presente por ocasião do nascimento devido à resistência da tireóide ao TSH."},"pl":{"name":"Niedoczynność tarczycy spowodowana mutacjami receptora TSH"},"cs":{"name":"Hypotyreóza způsobená mutací TSH receptoru"},"uk":{"name":"Гіпотиреоз внаслідок мутацій рецепторів ТТГ","definition":"A type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth due to thyroid resistance to TSH."},"zh":{"name":"TSH受体突变所致甲状腺功能减退"},"tr":{"name":"TSH reseptör mutasyonlarına bağlı hipotiroidi"}},"xrefs":[{"source":"OMIM","code":"275200","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":"639660415"},{"source":"MONDO","code":"0010142","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C576976","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3493776","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95714,"name":"Primary congenital hypothyroidism without thyroid developmental anomaly","classifications":[156,193]}],"children":[],"genes":[{"symbol":"TSHR","name":"thyroid stimulating hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"19158199[PMID]_20537182[PMID]","hgnc":"12373","ensembl":"ENSG00000165409","omim":"603372","loci":["14q24-q31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-04","source":"28648507[PMID]_20537182[PMID]_25797365[PMID]_21513912[PMID]","terms":[{"hpo":"HP:0011789","label":"Impaired sensitivity to thyroid stimulating hormone","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025484","label":"Increased circulating thyroglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031219","label":"Reduced radioactive iodine uptake","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025429","label":"Abnormal cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008223","label":"Compensated hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031220","label":"Increased radioactive iodine uptake","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004491","label":"Large posterior fontanelle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Excluded (0%)","criteria":null}]}}