{"orpha":226316,"name":"Genetic transient congenital hypothyroidism","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-226316/","orphanet_url":"https://www.orpha.net/en/disease/detail/226316","names":{"fr":{"name":"Hypothyroïdie congénitale transitoire génétique","definition":"Maladie rare de la thyroïde caractérisée par un déficit temporaire en hormones thyroïdiennes à la naissance, induit par une mutation génétique, qui revient à la normale au cours des premiers mois ou des premières années de vie, avec ou sans traitement de substitution."},"de":{"name":"Hypothyreose, kongenitale, durch heterozygote THOX2-Genmutationen"},"es":{"name":"Hipotiroidismo congénito genético transitorio","definition":"El hipotiroidismo congénito genético transitorio, es una enfermedad tiroidea poco frecuente caracterizada por una deficiencia temporal de hormonas hipofisiarias al nacer, inducida por una mutación genética, que revierte con o sin terapia sustitutiva en los primeros meses o años de vida."},"it":{"name":"Ipotiroidismo congenito genetico transitorio","definition":"L'ipotiroidismo congenito genetico transitorio è una tireopatia rara, caratterizzata da un difetto congenito temporaneo degli ormoni tiroidei, causato da una mutazione genetica, che successivamente scompare con o senza terapia sostitutiva, nei primi mesi o anni di vita."},"nl":{"name":"Genetische transiënte congenitale hypothyreoïdie","definition":"Genetische transiënte congenitale hypothyreoïdie is een zeldzame schildklierziekte die wordt gekarakteriseerd door een tijdelijke deficiëntie van schildklierhormonen bij de geboorte. Deze deficiëntie is het gevolg van een genmutatie en normaliseert zich later, tijdens de eerste levensmaanden of -jaren, al dan niet met behulp van vervangingstherapie."},"pt":{"name":"Hipotiroidismo congénito por mutações em heterozigotia no gene THOX2"},"pl":{"name":"Przejściowa wrodzona niedoczynność tarczycy","definition":"*Przejściowa wrodzona niedoczynność tarczycy jest rzadką chorobą tarczycy, która charakteryzuje się indukowanym mutacją genową czasowym niedoborem hormonów tarczycy po urodzeniu, który w pierwszych miesiącach lub latach życia wraca do normy, niezależnie od zastosowania terapii zastępczej."},"cs":{"name":"Genetická tranzientní vrozená hypotyreóza"},"uk":{"name":"Генетично обумовлений транзиторний вроджений гіпотиреоз","definition":"Genetic transient congenital hypothyroidism is a rare, thyroid disease characterized by a gene mutation induced, temporary deficiency of thyroid hormones at birth, which later reverts to normal with or without replacement therapy in the first few months or years of life."},"zh":{"name":"遗传性短暂性先天性甲状腺功能减退症","definition":"遗传性短暂性先天性甲状腺功能减退症是一种罕见的甲状腺疾病，其特征是由基因突变所致，出生时甲状腺激素暂时缺乏，在出生后的几个月或几年内，无论是否接受替代治疗，甲状腺激素都会恢复正常水平。"},"tr":{"name":"Genetik geçici doğumsal hipotiroidi"}},"xrefs":[{"source":"OMIM","code":"607200","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.03","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1830092908"},{"source":"MONDO","code":"0044331","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4749351","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":442,"name":"Congenital hypothyroidism","classifications":[156]},{"orpha":238699,"name":"Transient congenital hypothyroidism due to neonatal factor","classifications":[193]}],"children":[],"genes":[{"symbol":"DUOX2","name":"dual oxidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25248169[PMID]","hgnc":"13273","ensembl":"ENSG00000140279","omim":"606759","loci":["15q21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-05-31","source":"20537182[PMID]_31172499[PMID]_21543982[PMID]_33490161[PMID]_28504502[PMID]_32565793[PMID]","terms":[{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025484","label":"Increased circulating thyroglobulin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008263","label":"Thyroid defect in oxidation and organification of iodide","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031221","label":"Abnormal radioactive iodine uptake test result","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011968","label":"Feeding difficulties","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001615","label":"Hoarse cry","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001070","label":"Mottled pigmentation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031169","label":"Postterm pregnancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000969","label":"Edema","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Very rare (<4-1%)","criteria":null}]}}