{"orpha":99819,"name":"Familial gestational hyperthyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-99819/","orphanet_url":"https://www.orpha.net/en/disease/detail/99819","names":{"fr":{"name":"Hyperthyroïdie gestationnelle","definition":"Hyperthyroïdie rare d'origine génétique caractérisée par un hyperemesis gravidarum associé à une hyperthyroïdie due à une hypersensibilité du récepteur de la thyréostimuline à la gonadotrophine chorionique humaine (HCG), en l'absence de concentrations sériques en HCG anormalement élevées. Les manifestations cliniques comprennent nausées et vomissements sévères, perte de poids, tachycardie, hypersudation et tremblements de mains, sans signe d'ophtalmopathie thyroïdienne."},"de":{"name":"Hyperthyreose, familiäre schwangerschaftsbedingte","definition":"Eine seltene genetische Form der Hyperthyreose, die durch Hyperemesis gravidarum in Verbindung mit einer Hyperthyreose aufgrund einer Hypersensitivität des Thyreotropinrezeptors gegenüber Choriongonadotropin ohne abnorm hohe Serumkonzentrationen von Choriongonadotropin gekennzeichnet ist. Zu den klinischen Manifestationen gehören starke Übelkeit, Erbrechen, Gewichtsverlust, Tachykardie, übermäßiges Schwitzen und Zittern der Hände, jedoch keine Anzeichen einer Ophthalmopathie."},"es":{"name":"Hipertiroidismo familiar gestacional","definition":"Es una forma poco frecuente de hipertiroidismo de origen genético caracterizado por hiperémesis gravídica asociada a hipertiroidismo debido a la hipersensibilidad del receptor de tirotropina a la gonadotropina coriónica, en ausencia de niveles anormalmente altos de gonadotropina coriónica en suero. Las manifestaciones clínicas incluyen náusea intensa, vómitos, pérdida de peso, taquicardia, sudoración excesiva y temblor de manos, pero sin signos de oftalmopatía."},"it":{"name":"Ipertiroidismo gestazionale familiare","definition":"Si tratta di un ipertiroidismo genetico raro, caratterizzato da iperemesi gravidica associata ad ipertiroidismo causato dall'ipersensibilità del recettore della tireotropina alla gonadotropina corionica, in assenza di livelli particolarmente elevati di gonadotropina corionica nel siero. I segni clinici comprendono la forte nausea, il vomito, la perdita di peso, la tachicardia, l'iperidrosi e il tremore delle mani, in assenza di oftalmopatia."},"nl":{"name":"Familiale gestationele hyperthyreoïdie","definition":"Een zeldzame, genetische hyperthyreoïdie, gekenmerkt door hyperemesis gravidarum (overmatig braken tijdens zwangerschap) geassocieerd met hyperthyreoïdie door hypersensitiviteit van thyrotropinereceptor voor choriongonadotrofine, in afwezigheid van abnormaal hoge gehaltes van choriongonadotrofine in serum. Klinische manifestaties zijn onder meer ernstige misselijkheid, braken, gewichtsverlies, tachycardie, overmatige transpiratie, en handtremor, maar verschijnselen van oftalmopathie worden niet waargenomen."},"pt":{"name":"Hipertiroidismo gestacional familiar"},"pl":{"name":"Rodzinna ciążowa nadczynność tarczycy"},"cs":{"name":"Familiární gestační tyreotoxikóza"},"uk":{"name":"Сімейний гестаційний гіпертиреоз","definition":"A rare genetic hyperthyroidism characterized by hyperemesis gravidarum associated with hyperthyroidism due to hypersensitivity of the thyrotropin receptor to chorionic gonadotropin, in the absence of abnormally high serum chorionic gonadotropin levels. Clinical manifestations include severe nausea, vomiting, weight loss, tachycardia, excessive sweating, and hand tremor, but no signs of ophthalmopathy."},"zh":{"name":"家族性妊娠性甲状腺功能亢进症"},"tr":{"name":"Ailesel gebelik hipertiroidi"}},"xrefs":[{"source":"OMIM","code":"603373","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E05.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"O99.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A02.Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"811229304"},{"source":"MONDO","code":"0011309","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C566384","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1863959","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":163637,"name":"Rare disorder related with pregnancy, childbirth and puerperium","classifications":[205]},{"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":"9854118[PMID]","hgnc":"12373","ensembl":"ENSG00000165409","omim":"603372","loci":["14q24-q31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult"],"prevalence":[],"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:0012188","label":"Hyperemesis gravidarum","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: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:0000713","label":"Agitation","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:0000520","label":"Proptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030057","label":"Autoimmune antibody positivity","frequency":"Excluded (0%)","criteria":null}]}}