{"orpha":95712,"name":"Thyroid ectopia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Thyroid ectopia is a form of thyroid dysgenesis characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95712/","orphanet_url":"https://www.orpha.net/en/disease/detail/95712","names":{"fr":{"name":"Ectopie thyroïdienne","definition":"L'ectopie thyroïdienne est une forme de dysgénésie thyroïdienne caractérisée par une localisation ectopique de la thyroïde entraînant une hypothyroïdie congénitale primitive , c'est-à-dire une insuffisance permanente en hormones thyroïdiennes présente à la naissance."},"de":{"name":"Schilddrüsenektopie","definition":"Die Schildrüsen-Ektopie ist eine Form der Schilddrüsen-Dysgenesie (s. dort) und ist gekennzeichnet durch ektopische Lage der Schilddrüse, die zu primärer kongenitaler Hypothyreose (s. dort) führt, einem permanenten Mangel, der von Geburt an besteht."},"es":{"name":"Ectopia tiroidea","definition":"La ectopia tiroidea es una forma de disgenesia tiroidea (consulte este término) caracterizada por una localización ectópica de la glándula tiroides que conlleva un hipotiroidismo primario congénito (consulte este término) y un déficit permanente de hormonas tiroideas, presente desde el nacimiento."},"it":{"name":"Ectopia tiroidea"},"nl":{"name":"Ectopie van schildklier","synonyms":["Ectopie van thyroïd"],"definition":"Ectopie van schildklier is een vorm van dysgenesie van schildklier, gekenmerkt door een ectopische locatie van schildklier die resulteert in primaire congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is vanaf de geboorte."},"pt":{"name":"Ectopia da tiroide","definition":"A ectopia da tiroide é uma forma de disgenesia da tiroide (ver este termo), caracterizada por uma localização ectópica da glândula tiroide, que resulta em hipotiroidismo congénito primário (ver este termo), uma deficiência permanente da tiroide que está presente à nascença."},"pl":{"name":"Ektopia tarczycy"},"cs":{"name":"Ektopie štítné žlázy"},"uk":{"name":"Ектопія щитовидної залози","definition":"Thyroid ectopia is a form of thyroid dysgenesis (see this term) characterized by an ectopic location of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth."},"zh":{"name":"甲状腺异位","definition":"甲状腺异位症是甲状腺发育不全（见该词条）的一种类型，其特征是甲状腺异位导致原发性先天性甲状腺功能减退（见该词条），这是一种从出生就存在的永久性甲状腺缺陷。"},"tr":{"name":"Tiroid ektopisi"}},"xrefs":[{"source":"OMIM","code":"218700","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"225250","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.01","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"458251984"},{"source":"MONDO","code":"0019854","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0345447","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95711,"name":"Congenital hypothyroidism due to developmental anomaly","classifications":[156,193]}],"children":[],"genes":[{"symbol":"PAX8","name":"paired box 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25214233[PMID]_25905381[PMID]","hgnc":"8622","ensembl":"ENSG00000125618","omim":"167415","loci":["2q14.1"]},{"symbol":"NKX2-5","name":"NK2 homeobox 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"16418214[PMID]_25905381[PMID]","hgnc":"2488","ensembl":"ENSG00000183072","omim":"600584","loci":["5q35.1"]}],"genes_via_subtypes":[],"inheritance":["Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.3,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2023-08-16","source":"30969714[PMID]_35841171[PMID]","terms":[{"hpo":"HP:0100028","label":"Ectopic thyroid","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000271","label":"Abnormality of the face","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000821","label":"Hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000239","label":"Large fontanelles","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100029","label":"Lingual thyroid","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:6000855","label":"Cold intolerance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000958","label":"Dry skin","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001609","label":"Hoarse voice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null}]}}