{"orpha":424,"name":"Familial hyperthyroidism due to mutations in TSH receptor","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Familial non-immune hyperthyroidism","Resistance to thyroid stimulating hormone"],"definition":"A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-424/","orphanet_url":"https://www.orpha.net/en/disease/detail/424","names":{"fr":{"name":"Hyperthyroïdie familiale par mutation du récepteur de la TSH","synonyms":["Hyperthyroïdie non-immune familiale","Résistance à la TSH"],"definition":"L'hyperthyroïdie familiale par mutation du récepteur de la TSH est une hyperthyroïdie rare modérée à sévère, caractérisée par un goître, l'absence de caractéristiques d'autoimmunité, des rechutes fréquentes sous traitement et une histoire familiale positive."},"de":{"name":"Hyperthyreose durch TSH-Rezeptor-Genmutationen, familiäre Form","synonyms":["Hyperthyreose, nicht-immune, familiäre Form","Syndrom der Resistenz gegen TSH"]},"es":{"name":"Hipertiroidismo familiar por mutaciones en el receptor de la TSH","synonyms":["Resistencia a la hormona estimulante de tiroides"],"definition":"Es una forma de hipertiroidismo poco frecuente caracterizada por formas clínicas que van de leves a graves, presencia de bocio, ausencia de condiciones autoinmunes, frecuentes recaídas durante el tratamiento y antecedentes familiares."},"it":{"name":"Ipertiroidismo familiare da mutazioni del recettore TSH","synonyms":["Ipertiroidismo non immune familiare"]},"nl":{"name":"Familiale hyperthyreoïdie door mutaties in TSH-receptor","synonyms":["Familiale niet-immune hyperthyreoïdie","Resistentie tegen schildklierstimulerend hormoon"],"definition":"Een zeldzame hyperthyreoïdie gekarakteriseerd door milde tot ernstige hyperthyreoïdie, aanwezigheid van struma, afwezigheid van kenmerken van auto-immuniteit, frequente terugvallen tijdens de behandeling en een positieve familiegeschiedenis."},"pt":{"name":"Hipertiroidismo familiar por mutação no recetor da TSH","synonyms":["Resistência à TSH"]},"pl":{"name":"Rodzinna niedoczynność tarczycy spowodowana mutacją receptora TSH","synonyms":["Rodzinna nieimmunologiczna nadczynność tarczycy"]},"cs":{"name":"Familiární hypertyreoidismus způsobený mutacemi v TSH receptoru","synonyms":["Familiární neimunitní hypertyreoidismus","Rezistence vůči tyreotropnímu hormonu"]},"uk":{"name":"Сімейний гіпертиреоз внаслідок мутацій в рецепторі ТТГ","synonyms":["Сімейний неімунний гіпертиреоз","Резистентність до тиреотропного гормону"],"definition":"A rare hyperthyroidism characterized by mild to severe hyperthyroidism, presence of goiter, absence of features of autoimmunity, frequent relapses while on treatment and a positive family history."},"zh":{"name":"TSH受体突变所致家族性甲亢","synonyms":["促甲状腺激素抵抗"]},"tr":{"name":"TSH reseptöründeki mutasyonlara bağlı ailesel hipertiroidi","synonyms":["Ailesel immün olmayan hipertiroidi","Tiroid uyarıcı hormona direnç"]}},"xrefs":[{"source":"OMIM","code":"609152","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E05.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A02.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"727171381"},{"source":"MONDO","code":"0012203","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4274306","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2858","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":506213,"name":"Rare disorder potentially indicated for kidney transplant","classifications":[233]},{"orpha":181399,"name":"Rare hyperthyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"TSHR","name":"thyroid stimulating hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24947036[PMID]_23295291[PMID]","hgnc":"12373","ensembl":"ENSG00000165409","omim":"603372","loci":["14q24-q31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Cases/families","qualification":"Family(ies)","class":null,"value":28.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-10-03","source":"26580241[PMID]_9267761[PMID]_9854118[PMID]_7800007[PMID]_8964822[PMID]_24947036[PMID]_7124278[PMID]","terms":[{"hpo":"HP:0011790","label":"Activating thyroid-stimulating hormone receptor (TSHR) defect","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0000836","label":"Hyperthyroidism","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002378","label":"Hand tremor","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001518","label":"Small for gestational age","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008249","label":"Thyroid hyperplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011784","label":"Thyrotoxicosis with diffuse goiter","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001824","label":"Weight loss","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000713","label":"Agitation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012372","label":"Abnormal eye morphology","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}