{"orpha":597939,"name":"Euthyroid dysprealbuminemic hyperthyroxinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Euthyroid dystransthyretinemic hyperthyroxinemia"],"definition":"A rare genetic endocrine disease characterized by increased affinity of a mutated transthyretin for T4. Total and free T4 may be normal or elevated, but affected individuals are clinically euthyroid.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-597939/","orphanet_url":"https://www.orpha.net/en/disease/detail/597939","names":{"fr":{"name":"Hyperthyroxinémie euthyroidienne par dyspré-albuminémie","synonyms":["Euthyroidie avec hyperthyroxinémie et défaut de la préalbumine"],"definition":"Maladie endocrinienne génétique rare caractérisée par une affinité accrue de la transthyrétine mutée pour la T4. Les taux de T4 totale et de T4 libre peuvent être normaux ou élevés, mais les personnes atteintes sont euthyroïdiennes sur le plan clinique."},"de":{"name":"Hyperthyroxinämie, dystransthyretinämische euthyreote","definition":"Eine seltene endokrine Erkrankung, die durch eine erhöhte Affinität eines mutierten Transthyretins für T4 gekennzeichnet ist. Gesamt-T4 und freies T4 können normal oder erhöht sein, aber die betroffenen Personen sind klinisch euthyreot."},"es":{"name":"Hipertiroxinemia disprealbuminémica eutiroidea","definition":"Es una enfermedad endocrina genética poco frecuente caracterizada por una mayor afinidad de una transtiretina mutada por la T4. La T4 total y libre puede ser normal o estar elevada, pero los pacientes son clínicamente eutiroideos."},"it":{"name":"Ipertirossinemia disprealbuminemica eutiroidea"},"nl":{"name":"Euthyrotische hyperthyroxinemie met afwijkende serumwaarden voor transthyretine","definition":"Een zeldzame, genetische endocriene aandoening, gekenmerkt door verhoogde affiniteit van een gemuteerd transthyretine voor T4. Totaal en vrij T4 kan normaal of verhoogd zijn, maar getroffen individuen zijn klinisch euthyroïd."},"pt":{"name":"Hipertiroxinémia eutiroide disprealbuminémica","definition":"Doença endócrina genética rara caracterizada por afinidade aumentada de uma transtirretina mutada para T4. T4 total e livre pode ser normal ou elevado, mas os indivíduos afetados são clinicamente eutiroides."},"pl":{"name":"Eutyreoza z dysprealbuinemiczną hipertyroksynemią","synonyms":["Euthyroid dystransthyretinemic hyperthyroxinemia"],"definition":"Rzadka, genetycznie uwarunkowana choroba endokrynologiczna charakteryzująca się zwiększonym powinowactwem zmutowanej transtyretyny do T4. Całkowita i wolna T4 może być prawidłowa lub podwyższona, ale osoby dotknięte chorobą klinicznie są w eutyreozie."},"cs":{"name":"Eutyroidní dysprealbuminemická hypertyroxinemie","synonyms":["Euthyroid dystransthyretinemic hyperthyroxinemia"]},"uk":{"name":"Еутиреоїдна диспреальбумінемічна гіпертироксинемія","synonyms":["Еутиреоїдна дистранстиретинемічна гіпертироксинемія"],"definition":"A rare genetic endocrine disease characterized by increased affinity of a mutated transthyretin for T4. Total and free T4 may be normal or elevated, but affected individuals are clinically euthyroid."},"zh":{"name":"Euthyroid dysprealbuminemic hyperthyroxinemia","synonyms":["Euthyroid dystransthyretinemic hyperthyroxinemia"]},"tr":{"name":"Euthyroid dysprealbuminemic hyperthyroxinemia","synonyms":["Euthyroid dystransthyretinemic hyperthyroxinemia"]}},"xrefs":[{"source":"OMIM","code":"145680","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E07.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A0Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0036045","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680265","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"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":"TTR","name":"transthyretin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"1979335[PMID]","hgnc":"12405","ensembl":"ENSG00000118271","omim":"176300","loci":["18q12.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Adult"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":23.0,"area":"Worldwide","status":"Validated","source":"8784093[PMID]_15833783[PMID]_1979335[PMID]_31590893[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"8784093[PMID]_15833783[PMID]_1979335[PMID]_31590893[PMID]_ORPHANET"}],"phenotypes":null}