{"orpha":209905,"name":"Brain-lung-thyroid syndrome","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome"],"definition":"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-209905/","orphanet_url":"https://www.orpha.net/en/disease/detail/209905","names":{"fr":{"name":"Syndrome cerveau-poumon-thyroïde","synonyms":["Syndrome de choréoathétose-hypothyroïdie-détresse respiratoire néonatale"],"definition":"Le syndrome cerveau-poumon-thyroïde est une maladie rare associant hypothyroïdie congénitale (HC), syndrome de détresse respiratoire (SDR) du nourrisson et chorée familiale bénigne (CFB)."},"de":{"name":"Hirn-Lunge-Schilddrüsen-Syndrom","synonyms":["Choreoathetose-Hypothyreose-neonatale Atemnot-Syndrom"],"definition":"Das Hirn-Lunge-Schilddrüse-Syndrom ist gekennzeichnet durch kongenitale Hypothyreose (CH), Neugeborenen-Atemnotsyndrom (IRDS) und benigne hereditäre Chorea (BHC)."},"es":{"name":"Síndrome cerebro-pulmón-tiroides","synonyms":["Síndrome de coreoatetosis-hipotiroidismo-dificultad respiratoria neonatal"],"definition":"El síndrome cerebro-pulmón-tiroides es una enfermedad rara caracterizado por hipotiroidismo congénito (HC), síndrome de dificultad respiratoria infantil (SDRI) y corea hereditaria benigna (CHB; ver estos términos)."},"it":{"name":"Sindrome cervello-polmone-tiroide","synonyms":["Sindrome coreatetosi-ipotiroidismo-distress respiratorio neonatale"],"definition":"La sindrome cervello-polmone-tiroide è una malattia rara, caratterizzata da ipotiroidismo congenito (CH), sindrome da distress respiratorio neonatale (IRDS) e corea ereditaria benigna (BHC; si vedano questi termini)."},"nl":{"name":"Hersenen - long - schildklier-syndroom","synonyms":["Choreoathetose - hypothyreoïdie - neonatale ademhalingsnood-syndroom"],"definition":"Hersenen - long - schildklier-syndroom is een zeldzame aandoening, gekenmerkt door congenitale hypothyreoïdie (CH), infantiel respiratoire distress-syndroom (IRDS) en goedaardige erfelijke chorea (BHC)."},"pt":{"name":"Síndrome cérebro-pulmão-tiroide","synonyms":["Síndrome de coreoatetose-hipotiroidismo-dificuldade respiratória neonatal"],"definition":"O síndrome cérebro-pulmão-tireóide é uma patologia rara caracterizada por hipotireoidismo congénito (CH), síndrome de dificuldade respiratória infantil (IRDS) e coréia hereditária benigna (BHC; ver esses termos)."},"pl":{"name":"Zespół mózg-płuca-tarczyca","synonyms":["Zespół choreoatetozy, niedoczynności tarczycy i niewydolności oddechowej noworodków"]},"cs":{"name":"Syndrom mozku, plic a štítné žlázy","synonyms":["Syndrom zahrnující choreoatetózu, hypotyreózu a dechovou tíseň novorozence"]},"uk":{"name":"Мозково-легенево-тиреоїдний синдром","synonyms":["Хореоатетоз - гіпотиреоз - респіраторний дистрес-синдром новонароджених"],"definition":"Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms)."},"zh":{"name":"脑-肺-甲状腺综合征","synonyms":["舞蹈手足徐动症-甲状腺机能减退-新生儿呼吸窘迫综合征"],"definition":"脑-肺-甲状腺综合征是一种罕见的以先天性甲状腺功能减退（CH）、婴儿呼吸窘迫综合征（IRDS）和良性遗传性舞蹈病（BHC）为特征的疾病。"},"tr":{"name":"Beyin-akciğer-tiroid sendromu","synonyms":["Koreoatetoz-hipotiroidi-yenidoğan solunum sıkıntısı sendromu"]}},"xrefs":[{"source":"OMIM","code":"610978","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E03.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"CB04.5","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"809856670"},{"source":"MONDO","code":"0012593","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C567034","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1970269","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"12163","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":93890,"name":"Rare developmental defect during embryogenesis"},"parents":[{"orpha":306719,"name":"Neurodegenerative disease with chorea","classifications":[156,181]},{"orpha":100049,"name":"Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies","classifications":[156,184,233]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]},{"orpha":177107,"name":"Syndromic hypothyroidism","classifications":[156,193]}],"children":[],"genes":[{"symbol":"NKX2-1","name":"NK2 homeobox 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24129101[PMID]_24555207[PMID]","hgnc":"11825","ensembl":"ENSG00000136352","omim":"600635","loci":["14q13.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":100.0,"area":"Worldwide","status":"Validated","source":"28286255[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_28286255[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2019-09-27","source":"25412988[PMID]_24714694[PMID]_23430038[PMID]_22832740[PMID]_19336474[PMID]_24555207[PMID]","terms":[{"hpo":"HP:0000820","label":"Abnormality of the thyroid gland","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000707","label":"Abnormality of the nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002086","label":"Abnormality of the respiratory system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001266","label":"Choreoathetosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000851","label":"Congenital hypothyroidism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0008947","label":"Floppy infant","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002643","label":"Neonatal respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002098","label":"Respiratory distress","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001671","label":"Abnormal cardiac septum morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006530","label":"Abnormal pulmonary interstitial morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002186","label":"Apraxia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001631","label":"Atrial septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008223","label":"Compensated hypothyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002925","label":"Elevated circulating thyroid-stimulating hormone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001510","label":"Growth delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002311","label":"Incoordination","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001336","label":"Myoclonus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002092","label":"Pulmonary arterial hypertension","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006532","label":"Recurrent pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002205","label":"Recurrent respiratory infections","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008188","label":"Thyroid dysgenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011780","label":"Thyroid hemiagenesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001629","label":"Ventricular septal defect","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030082","label":"Abnormal drinking behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100738","label":"Abnormal eating behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002679","label":"Abnormality of the sella turcica","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001274","label":"Agenesis of corpus callosum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002099","label":"Asthma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002389","label":"Cavum septum pellucidum","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000722","label":"Compulsive behaviors","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000668","label":"Hypodontia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000829","label":"Hypoparathyroidism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000047","label":"Hypospadias","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000021","label":"Megacystis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000252","label":"Microcephaly","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001655","label":"Patent foramen ovale","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002206","label":"Pulmonary fibrosis","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0100753","label":"Schizophrenia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0004322","label":"Short stature","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001955","label":"Unexplained fevers","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000076","label":"Vesicoureteral reflux","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000465","label":"Webbed neck","frequency":"Very rare (<4-1%)","criteria":null}]}}