{"orpha":95720,"name":"Thyroid hypoplasia","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Thyroid hypoplasia is a form of thyroid dysgenesis characterized by incomplete development 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-95720/","orphanet_url":"https://www.orpha.net/en/disease/detail/95720","names":{"fr":{"name":"Hypoplasie de la thyroïde","definition":"L'hypoplasie de la thyroïde est une forme de dysgénésie thyroïdienne caractérisée par un développement incomplet de la thyroïde entraînant une hypothyroïdie congénitale primitive , c'est-à-dire une insuffisance permanente en hormones thyroïdiennes présente à la naissance."},"de":{"name":"Schilddrüsenhypoplasie","synonyms":["Thyreoidea-Hypoplasie"],"definition":"Die Schilddrüsen-Hypoplasie ist eine Form der Schilddrüsen-Dysgenesie (s.dort) und gekennzeichnet durch unvollständige Entwicklung der Schilddrüse mit der Folge einer primären kongenitalen Hypothyreose (s. dort), einem von Geburt an bestehenden permanentem Mangel an Schilddrüsenhormon."},"es":{"name":"Hipoplasia tiroidea","definition":"La hipoplasia tiroidea es una forma de disgenesia tiroidea (consulte este término) caracterizada por un desarrollo incompleto de la glándula tiroides que conlleva un hipotiroidismo congénito primario (consulte este término), una deficiencia permanente de hormonas tiroideas presente desde el nacimiento."},"it":{"name":"Ipoplasia tiroidea"},"nl":{"name":"Hypoplasie van schildklier","synonyms":["Schildklierhypoplasie"],"definition":"Hypoplasie van schildklier is een vorm van dysgenesie van schildklier, gekenmerkt door onvolledige ontwikkeling van schildklier die resulteert in primaire congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is vanaf de geboorte."},"pt":{"name":"Hipoplasia da tiroide","definition":"A hipoplasia da tiroide é uma forma de disgenesia da tiroide (ver este termo), caracterizada pelo desenvolvimento incompleto da glândula tiroide, que resulta em hipotiroidismo congénito primário (ver este termo), uma deficiência permanente da tiroide que está presente à nascença."},"pl":{"name":"Hipoplazja tarczycy"},"cs":{"name":"Hypoplázie štítné žlázy"},"uk":{"name":"Гіпоплазія щитовидної залози","definition":"Thyroid hypoplasia is a form of thyroid dysgenesis (see this term) characterized by incomplete development of the thyroid gland that results in primary congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth."},"zh":{"name":"甲状腺发育不良","definition":"甲状腺发育不全是甲状腺发育不良(thyroid dysgenesis)（见该词条）的一种形式，其特征是甲状腺发育不全，导致原发性先天性甲状腺功能减退（见该词条），是一种从出生就存在的永久性甲状腺缺陷。"},"tr":{"name":"Tiroid hipoplazisi"}},"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":"936952450"},{"source":"MONDO","code":"0019861","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0151516","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8426","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10065938","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]},{"orpha":95718,"name":"Congenital thyroid malformation without hypothyroidism","classifications":[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":"11232006[PMID]_11502839[PMID]_25146893[PMID]_25905381[PMID]","hgnc":"8622","ensembl":"ENSG00000125618","omim":"167415","loci":["2q14.1"]},{"symbol":"SLC26A4","name":"solute carrier family 26 member 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"24248179[PMID]","hgnc":"8818","ensembl":"ENSG00000091137","omim":"605646","loci":["7q22.3"]},{"symbol":"TSHR","name":"thyroid stimulating hormone receptor","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"25153578[PMID]_25905381[PMID]","hgnc":"12373","ensembl":"ENSG00000165409","omim":"603372","loci":["14q24-q31"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Not applicable"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Worldwide","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"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: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:0012378","label":"Fatigue","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","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:0000158","label":"Macroglossia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","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}]}}