{"orpha":95713,"name":"Athyreosis","type":"Morphological anomaly","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95713/","orphanet_url":"https://www.orpha.net/en/disease/detail/95713","names":{"fr":{"name":"Athyréose","definition":"L'athyréose est une forme de dysgénésie thyroïdienne caractérisée par l'absence totale du tissu thyroïdien, entraînant une hypothyroïdie congénitale primitive , c'est-à-dire une insuffisance permanente en hormones thyroïdiennes présente à la naissance."},"de":{"name":"Athyreose","definition":"Die Athyreose ist eine Form von Schilddrüsen-Dysgenesie (s. dort) und gekennzeichnet durch vollständiges Fehlen von Schilddrüsengewebe. Folge ist die primäre kongenitale Hypothyreose (s. dort), ein permanenter Mangel des Schilddrüsenhormons, der von Geburt an besteht."},"es":{"name":"Atireosis","definition":"Es una forma de disgenesia trioidea caracterizada por una ausencia completa de tejido tiroideo que provoca un hipotiroidismo primario congénito, un déficit permanente de hormonas tiroideas presente desde el nacimiento."},"it":{"name":"Atireosi"},"nl":{"name":"Athyreose","definition":"Een zeldzame vorm van dysgenesie van schildklier, gekenmerkt door volledige afwezigheid van schildklierweefsel, wat leidt tot primaire congenitale hypothyreoïdie, een permanente schildklierdeficiëntie die aanwezig is vanaf de geboorte."},"pt":{"name":"Atireose","definition":"A atireose é uma forma de disgenesia da tiroide (ver este termo) caracterizada pela ausência completa do tecido tiroideu, o que resulta em hipotiroidismo congénito primário (ver este termo), uma deficiência permanente da tiroide que está presente desde a nascença."},"pl":{"name":"Atyreoza"},"cs":{"name":"Atyreóza"},"uk":{"name":"Атиреоз","definition":"A rare form of thyroid dysgenesis characterized by complete absence of thyroid tissue that results in primary congenital hypothyroidism, a permanent thyroid deficiency that is present from birth."},"zh":{"name":"无甲状腺症","definition":"一种罕见的甲状腺发育不全，其特征是甲状腺组织完全缺失，导致原发性先天性甲状腺功能减退，是一种出生时就存在的永久性甲状腺功能缺陷。"},"tr":{"name":"Atireozis"}},"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":"508421438"},{"source":"MONDO","code":"0019855","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4305275","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":"FOXE1","name":"forkhead box E1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"28455095[PMID]","hgnc":"3806","ensembl":"ENSG00000178919","omim":"602617","loci":["9q22.33"]},{"symbol":"NKX2-1","name":"NK2 homeobox 1","gene_type":"gene with protein product","association":"Candidate gene tested in","status":"Not yet assessed","source":"28455095[PMID]","hgnc":"11825","ensembl":"ENSG00000136352","omim":"600635","loci":["14q13.3"]},{"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":"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":"14725684[PMID]","hgnc":"12373","ensembl":"ENSG00000165409","omim":"603372","loci":["14q24-q31"]},{"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":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.5,"area":"Europe","status":"Validated","source":"[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-10-09","source":"25905261[PMID]","terms":[{"hpo":"HP:0003270","label":"Abdominal distention","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025483","label":"Abnormal circulating thyroglobulin concentration","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:0011968","label":"Feeding difficulties","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: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:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008191","label":"Thyroid agenesis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0033850","label":"Coldness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","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:0001615","label":"Hoarse cry","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008282","label":"Unconjugated hyperbilirubinemia","frequency":"Frequent (79-30%)","criteria":null}]}}