{"orpha":525731,"name":"Pediatric-onset Graves disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Pediatric-onset Basedow disease"],"definition":"A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-525731/","orphanet_url":"https://www.orpha.net/en/disease/detail/525731","names":{"fr":{"name":"Maladie de Basedow à début pédiatrique","synonyms":["Maladie de Graves à début pédiatrique"],"definition":"Maladie endocrinienne rare caractérisée par la présence d'auto-anticorps sériques dirigés contre les récepteurs de l'hormone thyréostimulante, entraînant une augmentation de la production et de la sécrétion d'hormones thyroïdiennes, à l'origine d'un goitre toxique diffus. Les patients se présentent dans l'enfance avec des signes cliniques de thyrotoxicose (tels que tachycardie, perte de poids, tremblement des mains et transpiration), une hypertrophie diffuse de la glande thyroïde et une orbitopathie. Parmi les autres signes et symptômes, on observe entre autres une diminution des performances scolaires et sportives, une accélération de la croissance, une agitation, la fatigue, la sensibilité à la chaleur et l'aménorrhée."},"de":{"name":"Graves-Krankheit mit Beginn im Kindesalter","synonyms":["Morbus Basedow mit Beginn im Kindesalter"],"definition":"Eine seltene endokrine Erkrankung, die durch das Vorhandensein von Serum-Autoantikörpern gegen schilddrüsenstimulierende Hormonrezeptoren gekennzeichnet ist und zu einer erhöhten Produktion und Sekretion von Schilddrüsenhormonen führt, was eine diffuse toxische Struma verursacht. Die Patienten präsentieren sich im Kindesalter mit Anzeichen einer Thyreotoxikose (wie Tachykardie, Gewichtsverlust, Handtremor und Schwitzen), einer diffusen Vergrößerung der Schilddrüse und Orbitopathie. Weitere Anzeichen und Symptome sind u. a. verminderte schulische und sportliche Leistungen, beschleunigtes Wachstum, Unruhe, Müdigkeit, Hitzeempfindlichkeit und Amenorrhoe."},"es":{"name":"Enfermedad de Graves de inicio pediátrico","synonyms":["Enfermedad de Basedow de inicio pediátrico"],"definition":"Es una enfermedad endocrina poco frecuente caracterizada por la presencia de autoanticuerpos séricos contra el receptor de la hormona estimulante de la tiroides, que resulta en un aumento de la producción y secreción de la hormona tiroidea, provocando bocio difuso tóxico. Los pacientes se presentan en la infancia con signos de tirotoxicosis (tales como taquicardia, pérdida de peso, temblor de manos y sudoración), agrandamiento difuso de la glándula tiroides y orbitopatía. Otros signos y síntomas adicionales incluyen disminución del rendimiento académico y atlético, crecimiento acelerado, inquietud, cansancio, sensibilidad al calor y amenorrea, entre otros."},"it":{"name":"Malattia di Graves a esordio pediatrico","synonyms":["Malattia di Basedow a esordio pediatrico"],"definition":"Si tratta di un'endocrinopatia rara, caratterizzata dalla presenza di autoanticorpi diretti contro i recettori dell'ormone tireostimolante nel siero, con un conseguente aumento della produzione e della secrezione di ormoni tiroidei, che causano il gozzo tossico diffuso. La malattia esordisce durante l'infanzia con i sintomi della tireotossicosi (tachicardia, perdita di peso, tremore delle mani e sudorazione), ingrossamento diffuso della tiroide e orbitopatia. I pazienti possono presentare anche un peggioramento dei risultati scolastici e sportivi, crescita accelerata, irrequietezza, affaticamento, sensibilità al caldo e amenorrea."},"nl":{"name":"Pediatrische ziekte van Graves","synonyms":["Pediatrische ziekte van Basedow","Ziekte van Basedow met aanvang in de kindertijd","Ziekte van Graves met aanvang in de kindertijd"],"definition":"Een zeldzame endocriene aandoening, gekarakteriseerd door de aanwezigheid van auto-antilichamen tegen receptoren van thyroïdstimulerend hormoon, wat leidt tot verhoogde productie en secretie van thyroïdhormoon, met diffuse toxische struma tot gevolg. Patiënten presenteren zich in de kindertijd met verschijnselen van thyreotoxicose (zoals tachycardie, gewichtsverlies, tremor van hand, en zweten), diffuse vergroting van schildklier, en orbitopathie. Bijkomende verschijnselen en symptomen zijn onder meer verminderde academische en atletische prestaties, versnelde groei, rusteloosheid, vermoeidheid, gevoeligheid voor hitte, en amenorroe."},"pt":{"name":"Doença Graves com início na idade pediátrica"},"pl":{"name":"Choroba Gravesa ujawniająca się w okresie dziecięcym","synonyms":["Choroba Basedowa ujawniająca się w okresie dziecięcym"]},"cs":{"name":"Gravesova nemoc s nástupem v dětském věku","synonyms":["Basedowova nemoc s nástupem v dětském věku"]},"uk":{"name":"Хвороба Грейвса в дитячому віці","synonyms":["Хвороба Базедова, що починається в дитячому віці"],"definition":"A rare endocrine disease characterized by the presence of serum autoantibodies against thyroid-stimulating hormone receptors, leading to increased thyroid hormone production and secretion, causing diffuse toxic goiter. Patients present in childhood with signs of thyrotoxicosis (such as tachycardia, weight loss, hand tremor, and sweating), diffuse enlargement of the thyroid gland, and orbitopathy. Additional signs and symptoms include decreased academic and athletic performance, accelerated growth, restlessness, fatigue, sensitivity to heat, and amenorrhea, among others."},"zh":{"name":"小儿格雷夫斯病","synonyms":["小儿Basedow病"]},"tr":{"name":"Pediatrik başlangıçlı Graves hastalığı","synonyms":["Pediatrik Basedow hastalığı"]}},"xrefs":[{"source":"ICD-10","code":"E05.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A02.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0033925","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680179","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":181399,"name":"Rare hyperthyroidism","classifications":[193]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Adolescent","Childhood","Infancy"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-02-25","source":"10447021[PMID]_9814445[PMID]_27978517[PMID]_10447021[PMID]_28381452[PMID]_22031519[PMID]_18628515[PMID]_26980880[PMID]_15069405[PMID]","terms":[{"hpo":"HP:0002960","label":"Autoimmunity","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100647","label":"Graves disease","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0031506","label":"Increased circulating thyroxine level","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0011703","label":"Sinus tachycardia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011784","label":"Thyrotoxicosis with diffuse goiter","frequency":"Very frequent (99-80%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0000492","label":"Abnormal eyelid morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005616","label":"Accelerated skeletal maturation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025379","label":"Anti-thyroid peroxidase antibody positivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031284","label":"Flushing","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000975","label":"Hyperhidrosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002487","label":"Hyperkinetic movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011788","label":"Increased circulating free T3","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100785","label":"Insomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000737","label":"Irritability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001962","label":"Palpitations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001959","label":"Polydipsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002591","label":"Polyphagia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000520","label":"Proptosis","frequency":"Frequent (79-30%)","criteria":"Diagnostic criterion"},{"hpo":"HP:0008373","label":"Puberty and gonadal disorders","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000237","label":"Small anterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001337","label":"Tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001363","label":"Craniosynostosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100534","label":"Episcleritis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000822","label":"Hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010519","label":"Increased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002017","label":"Nausea and vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001562","label":"Oligohydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001622","label":"Premature birth","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001873","label":"Thrombocytopenia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001635","label":"Congestive heart failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000491","label":"Keratitis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012768","label":"Neonatal asphyxia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001904","label":"Neutropenia in presence of anti-neutropil antibodies","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0200028","label":"Pretibial myxedema","frequency":"Very rare (<4-1%)","criteria":null}]}}