{"orpha":466682,"name":"Euthyroid Graves orbitopathy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Euthyroid Graves ophthalmopathy"],"definition":"A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (i. e. unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-466682/","orphanet_url":"https://www.orpha.net/en/disease/detail/466682","names":{"fr":{"name":"Orbitopathie euthyroïdienne","synonyms":["Ophtalmopathie euthyroïdienne"],"definition":"Maladie ophtalmique rare caractérisée par des signes cliniques d'orbitopathie dysthyroïdienne (i.e. rétraction palpébrale unilatérale ou bilatérale, exophtalmie, atteinte des tissus mous, myopathie restrictive et/ou neuropathie optique) avec une fonction thyroïdienne normale et sans aucun signe d'hyperthyroïdie. L'examen biologique révèle généralement un faible taux sérique d'auto-anticorps du récepteur de l'hormone thyréostimulante."},"de":{"name":"Euthyreote Graves-Orbitopathie","synonyms":["Euthyreote endokrine Ophthalmopathie Graves"],"definition":"Eine seltene Augenerkrankung, die durch klinische Anzeichen einer Basedowschen Orbitopathie (d. h. ein- oder beidseitige Lidretraktion, Exophthalmus, Weichteilbeteiligung, restriktive Myopathie und/oder Optikusneuropathie) bei normaler Schilddrüsenfunktion und ohne Anzeichen einer Hyperthyreose gekennzeichnet ist. Bei der Laboruntersuchung werden in der Regel niedrige Serumspiegel von Autoantikörpern gegen den Rezeptor des schilddrüsenstimulierenden Hormons festgestellt."},"es":{"name":"Orbitopatía eutiroidea de Graves","synonyms":["Oftalmopatía eutiroidea de Graves"],"definition":"Es un trastorno oftalmológico poco frecuente caracterizado por los signos clínicos de la orbitopatía de Graves (es decir, retracción palpebral uni- o bilateral, exoftalmos, afectación de los tejidos blandos, miopatía restrictiva y/o neuropatía óptica) con una función tiroidea normal y sin signos de hipertiroidismo. Por lo general, las pruebas de laboratorio muestran unos niveles séricos bajos de autoanticuerpos contra el receptor de la hormona estimulante de la tiroides."},"it":{"name":"Orbitopatia eutiroidea di Graves","definition":"Si tratta di una malattia rara dell'occhio, caratterizzata dai segni clinici caratteristici dell'orbitopatia di Graves (retrazione mono- o bilaterale delle palpebre, esoftalmo, coinvolgimento dei tessuti molli, miopatia restrittiva e/o neuropatia ottica) con funzione tiroidea normale e in assenza di ipertiroidismo. Di solito gli esami di laboratorio mostrano livelli bassi degli autoanticorpi diretti contro i recettori dell'ormone tireostimolante nel siero."},"nl":{"name":"Euthyroïde Graves' orbitopathie","synonyms":["Euthyroïde Graves' oftalmopathie"],"definition":"Een zeldzame aandoening van oog, gekarakteriseerd door verschijnselen van oogziekte van Graves (i.e. unilaterale of bilaterale retractie van ooglid, exoftalmie, betrokkenheid van weke delen, restrictieve myopathie, en/of opticusneuropathie) met normale functie van schildklier en zonder enige verschijnselen van hyperthyreoïdie. Laboratoriumonderzoek toont doorgaans lage gehaltes van auto-antilichamen tegen receptor voor thyroïdstimulerend hormoon."},"pt":{"name":"Orbitopatia da doença de Graves eutiroideia"},"pl":{"name":"Orbitopatia Gravesa","synonyms":["Oftalmopatia Gravesa"]},"cs":{"name":"Euthyroidní Gravesova orbitopatie","synonyms":["Euthyroid Graves ophthalmopathy","Euthyroidní Gravesova oftalmopatie"]},"uk":{"name":"Еутиреоїдна орбітопатія Грейвса","synonyms":["Еутиреоїдна офтальмопатія Грейвса"],"definition":"A rare ophthalmic disorder characterized by clinical signs of Graves orbitopathy (i. e. unilateral or bilateral lid retraction, exophthalmos, soft tissue involvement, restrictive myopathy, and/or optic neuropathy) with normal thyroid function and without any signs of hyperthyroidism. Laboratory examination typically reveals low serum levels of thyroid-stimulating hormone receptor autoantibodies."},"zh":{"name":"甲状腺肿相关眼病","synonyms":["甲状腺肿相关眼病"]},"tr":{"name":"Ötiroid Graves orbitopati","synonyms":["Ötiroid-Graves oftalmopatisi"]}},"xrefs":[{"source":"ICD-10","code":"H05.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"9A20.00","qualifier":"NTBT","icd_relation":"attributed","validated":true,"icd11_uri":"null"},{"source":"MONDO","code":"0018756","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680004","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97966,"name":"Rare ophthalmic disorder"},"parents":[{"orpha":519329,"name":"Rare disorder involving multiple structures of the eye","classifications":[189]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":[],"prevalence":[],"phenotypes":null}