{"orpha":95716,"name":"Familial thyroid dyshormonogenesis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Thyroid dyshormonogenesis"],"definition":"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism, a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95716/","orphanet_url":"https://www.orpha.net/en/disease/detail/95716","names":{"fr":{"name":"Hypothyroïdie familiale par anomalie de l'hormonosynthèse thyroïdienne","synonyms":["Dyshormonosynthèse thyroïdienne"],"definition":"La dyshormonosynthèse thyroïdienne familiale est une forme d'hypothyroïdie congénitale primitive , une insuffisance permanente en hormones thyroïdiennes présente à la naissance, due à des erreurs innées de la synthèse des hormones thyroïdiennes."},"de":{"name":"Schilddrüsen-Dyshormonogenese, familiäre","definition":"Die familiäre Schilddrüsen-Dysfunktion (sog. Dyshormonogenese) ist ein Typ der primären kongenitalen Hypothyreose (s. dort), einem seit Geburt bestehendem permanentem Mangel an Schilddrüsenhormon, verursacht durch angeborene Defekte der Synthese des Schilddrüsenhormons."},"es":{"name":"Dishormonogénesis tiroidea familiar","definition":"La dishormonogénesis tiroidea familiar es un tipo de hipotiroidismo primario congénito (consulte este término), un déficit permanente de hormonas tiroideas presente desde el nacimiento, consecuencia de errores congénitos en la síntesis de hormona tiroidea."},"it":{"name":"Disormonogenesi tiroidea familiare","synonyms":["Disormonogenesi tiroidea"]},"nl":{"name":"Familiale dyshormonogenese van schildklier","synonyms":["Dyshormonogenese van schildklier","Familiale dyshormonogenese van thyroïd"],"definition":"Een type van primaire congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is van bij de geboorte, als gevolg van aangeboren defecten van synthese van schildklierhormoon."},"pt":{"name":"Dishormonogenese da tiroide familiar","synonyms":["Dishormonogenese da tiroide"],"definition":"A dishormonogénese familiar da tiroide é um tipo de hipotiroidismo congénito primário (ver este termo), uma deficiência permanente da hormona tiroidea que está presente à nascença e que resulta de erros inatos da síntese da hormona da tiroide."},"pl":{"name":"Rodzinna dyshormonogeneza tarczycy","synonyms":["Rodzinna dyshormonogeneza tarczycy"]},"cs":{"name":"Familiární tyreoidální dyshormonogeneze","synonyms":["Tyreoidální dyshormonogeneze"]},"uk":{"name":"Сімейний дисгормоногенез щитоподібної залози","synonyms":["Тиреоїдний дисгормоногенез"],"definition":"Familial thyroid dyshormonogenesis is a type of primary congenital hypothyroidism (see this term), a permanent thyroid hormone deficiency that is present from birth, which results from inborn errors of thyroid hormone synthesis."},"zh":{"name":"家族性甲状腺激素合成障碍","synonyms":["甲状腺激素合成障碍"],"definition":"家族性甲状腺激素生成障碍是一种原发性先天性甲状腺功能减退症（见该词条），是一种由先天性甲状腺激素合成错误引起的，出生时即存在的永久性甲状腺激素缺乏症。"},"tr":{"name":"ailesel tiroid disormonogenezi","synonyms":["Tiroid dishormonojenezi"]}},"xrefs":[{"source":"OMIM","code":"274400","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"274500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"274700","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"274800","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"274900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607200","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.0","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5A00.00","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1380668940"},{"source":"MONDO","code":"0010132","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273748","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":95714,"name":"Primary congenital hypothyroidism without thyroid developmental anomaly","classifications":[156,193]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"DUOX2","name":"dual oxidase 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_21543982[PMID]","hgnc":"13273","ensembl":"ENSG00000140279","omim":"606759","loci":["15q21.1"]},{"symbol":"DUOXA2","name":"dual oxidase maturation factor 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_21543982[PMID]","hgnc":"32698","ensembl":"ENSG00000140274","omim":"612772","loci":["15q21.1"]},{"symbol":"IYD","name":"iodotyrosine deiodinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_21543982[PMID]","hgnc":"21071","ensembl":"ENSG00000009765","omim":"612025","loci":["6q25.1"]},{"symbol":"SLC5A5","name":"solute carrier family 5 member 5","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_21543982[PMID]","hgnc":"11040","ensembl":"ENSG00000105641","omim":"601843","loci":["19p13.11"]},{"symbol":"TG","name":"thyroglobulin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_21543982[PMID]","hgnc":"11764","ensembl":"ENSG00000042832","omim":"188450","loci":["8q24.22"]},{"symbol":"TPO","name":"thyroid peroxidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_21543982[PMID]","hgnc":"12015","ensembl":"ENSG00000115705","omim":"606765","loci":["2p25.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":2.67,"area":"Worldwide","status":"Validated","source":"[EXPERT]_emedicine[OTHER]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 100 000","value":4.0,"area":"Finland","status":"Validated","source":"2919526[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-04","source":"20537182[PMID]_28476227[PMID]_33310921[PMID]_30324792[PMID]","terms":[{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","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:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000270","label":"Delayed cranial suture closure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008828","label":"Delayed proximal femoral epiphyseal ossification","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000853","label":"Goiter","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004491","label":"Large posterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","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:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0025483","label":"Abnormal circulating thyroglobulin concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000282","label":"Facial edema","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031220","label":"Increased radioactive iodine uptake","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","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:0003265","label":"Neonatal hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025482","label":"Positive perchlorate discharge test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031219","label":"Reduced radioactive iodine uptake","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Excluded (0%)","criteria":null}]}}