{"orpha":226307,"name":"Hypothyroidism due to deficient transcription factors involved in pituitary development or function","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism, a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-226307/","orphanet_url":"https://www.orpha.net/en/disease/detail/226307","names":{"fr":{"name":"Hypothyroïdie par déficit en facteurs de transcription impliqués dans le développement ou la fonction hypophysaire","definition":"L'hypothyroïdie par mutations des facteurs de transcription impliqués dans le développement ou la fonction hypophysaire est une forme d'hypothyroïdie congénitale centrale -déficit permanent en hormones thyroïdiennes présent dès la naissance-dans laquelle l'abaissement des taux d'hormones thyroïdiennes est dû à des anomalies du développement ou de la fonction de l'hypophyse."},"de":{"name":"Hypothyreose durch Mangel von Transkriptionsfaktoren zur Entwicklung oder Funktion der Hypophyse","definition":"Hypothyreose aufgrund von Mutationen in Transkriptionsfaktoren, die an der Entwicklung oder Funktion der Hypophyse beteiligt sind, ist eine Form der zentralen angeborenen Hypothyreose (siehe diesen Begriff), ein permanenter Schilddrüsenmangel, der von Geburt an vorliegt, gekennzeichnet durch niedrige Schilddrüsenhormone, die durch Störungen in der Entwicklung oder Funktion der Hypophyse verursacht werden."},"es":{"name":"Hipotiroidismo por factores de transcripción deficientes implicados en el desarrollo o función de la hipófisis","definition":"Es un tipo de hipotiroidismo congénito central, una deficiencia tiroidea permanente que está presente desde el nacimiento, caracterizada por niveles bajos de hormonas tiroideas causados por trastornos en el desarrollo o función de la hipófisis."},"it":{"name":"Ipotiroidismo da deficit dei fattori di trascrizione implicati nello sviluppo o nella funzione ipofisaria","definition":"L'ipotiroidismo da mutazioni dei fattori di trascrizione implicati nello sviluppo o nella funzione dell'ipofisi è una forma di ipotiroidismo centrale congenito (si veda questo termine), un deficit tiroideo permanente presente alla nascita, caratterizzato da livelli bassi degli ormoni tiroidei, secondario a un disturbo nello sviluppo o nella funzione dell'ipofisi."},"nl":{"name":"Hypothyreoïdie door deficiëntie van transcriptiefactoren betrokken bij ontwikkeling of functie van hypofyse","definition":"Hypothyreoïdie door mutaties in transcriptiefactoren betrokken bij ontwikkeling of functie van hypofyse is een type van centrale congenitale hypothyreoïdie, een permanente deficiëntie van schildklierhormoon die aanwezig is van bij de geboorte, gekenmerkt door lage gehaltes van schildklierhormonen veroorzaakt door aandoeningen van ontwikkeling of functie van hypofyse."},"pt":{"name":"Hipotiroidismo por deficiência nos fatores de transcrição envolvidos no desenvolvimento ou função da adenohipófise","definition":"O hipotiroidismo por mutações nos factores de transcrição envolvidos no desenvolvimento ou função da pituitária (ver este termo), é uma deficiência permanente da tireóide que está presente ao nascimento, caracterizada por baixos níveis das hormonas tireóideas devido a distúrbios do desenvolvimento ou da função da pituitária."},"pl":{"name":"Niedoczynność tarczycy z powodu niedoboru czynników transkrypcyjnych zaangażowanych w rozwój lub funkcjonowanie przysadki"},"cs":{"name":"Hypotyreóza způsobená deficitem transkripčních faktorů zahrnutých ve vývoji nebo funkci hypofýzy"},"uk":{"name":"Гіпотиреоз, спричинений дефіцитом транскрипційних факторів, що беруть участь у розвитку або функції гіпофіза","definition":"Hypothyroidism due to mutations in transcription factors involved in pituitary development or function is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones caused by disorders in the development or function of the pituitary."},"zh":{"name":"垂体发育或功能相关的转录因子缺陷所致甲状腺功能减退症","definition":"由参与垂体发育或功能发挥的转录因子突变所致甲状腺功能减退症是一种中枢性先天性甲状腺功能减退症（见该词条），是一种从出生起就存在的甲状腺功能缺陷，其特征是垂体发育或功能紊乱导致甲状腺激素水平低下。"},"tr":{"name":"Hipofiz gelişimi veya işlevi ile ilgili transkripsiyon faktörlerinin eksikliğine bağlı hipotiroidi"}},"xrefs":[{"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":"510589461"},{"source":"MONDO","code":"0016411","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4273672","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97978,"name":"Rare endocrine disease"},"parents":[{"orpha":226298,"name":"Central congenital hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"HESX1","name":"HESX homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_22851492[PMID]","hgnc":"4877","ensembl":"ENSG00000163666","omim":"601802","loci":["3p14.3"]},{"symbol":"LHX3","name":"LIM homeobox 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_22851492[PMID]","hgnc":"6595","ensembl":"ENSG00000107187","omim":"600577","loci":["9q34.3"]},{"symbol":"LHX4","name":"LIM homeobox 4","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_22851492[PMID]","hgnc":"21734","ensembl":"ENSG00000121454","omim":"602146","loci":["1q25.2"]},{"symbol":"POU1F1","name":"POU class 1 homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_22851492[PMID]","hgnc":"9210","ensembl":"ENSG00000064835","omim":"173110","loci":["3p11.2"]},{"symbol":"PROP1","name":"PROP paired-like homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20537182[PMID]_22851492[PMID]","hgnc":"9455","ensembl":"ENSG00000175325","omim":"601538","loci":["5q35.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2021-06-14","source":"25231446[PMID]_28549061[PMID]_26416826[PMID]_20537182[PMID]_30374425[PMID]","terms":[{"hpo":"HP:0031098","label":"Decreased thyroid-stimulating hormone level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008245","label":"Pituitary hypothyroidism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0031219","label":"Reduced radioactive iodine uptake","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005930","label":"Abnormality of epiphysis morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010627","label":"Anterior pituitary hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001662","label":"Bradycardia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031507","label":"Decreased circulating thyroxine level","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:0000282","label":"Facial edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0040075","label":"Hypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001265","label":"Hyporeflexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004491","label":"Large posterior fontanelle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012758","label":"Neurodevelopmental delay","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000871","label":"Panhypopituitarism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008202","label":"Reduced circulating prolactin concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005990","label":"Thyroid hypoplasia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001317","label":"Abnormal cerebellum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004637","label":"Decreased cervical spine mobility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002920","label":"Decreased circulating ACTH level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030341","label":"Decreased circulating follicle stimulating hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030344","label":"Decreased circulating luteinizing hormone level","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005280","label":"Depressed nasal bridge","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011755","label":"Ectopic posterior pituitary","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001161","label":"Hand polydactyly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000044","label":"Hypogonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031218","label":"Inappropriate antidiuretic hormone secretion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011800","label":"Midface retrusion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000609","label":"Optic nerve hypoplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025502","label":"Overweight","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000839","label":"Pituitary dwarfism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011220","label":"Prominent forehead","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009381","label":"Short finger","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000470","label":"Short neck","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025483","label":"Abnormal circulating thyroglobulin concentration","frequency":"Excluded (0%)","criteria":null},{"hpo":"HP:0011437","label":"Maternal autoimmune disease","frequency":"Excluded (0%)","criteria":null}]}}