{"orpha":664,"name":"Ornithine transcarbamylase deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["OCT deficiency","OTC deficiency","Ornithine carbamoyltransferase deficiency"],"definition":"A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-664/","orphanet_url":"https://www.orpha.net/en/disease/detail/664","names":{"fr":{"name":"Déficit en ornithine transcarbamylase","synonyms":["Déficit en OCT","Déficit en OTC","Déficit en ornithine carbamoyltransférase"],"definition":"Trouble rare du métabolisme du cycle de l'urée et de la détoxification de l'ammoniac, d'origine génétique, caractérisé soit par une maladie néonatale sévère touchant principalement les garçons, soit par des formes plus tardives (partielles) de la maladie. Ces deux formes se manifestent par des épisodes d'hyperammoniémie, qui peuvent être létaux ou entraîner des séquelles neurologiques."},"de":{"name":"Ornithin-Transcarbamylase-Mangel","synonyms":["OTC-Mangel","Ornithin-Carbamoyltransferase-Mangel"],"definition":"Eine genetisch bedingte Störung des Harnstoffzyklus-Stoffwechsels und der Ammoniak-Entgiftung. Diese manifestiert sich entweder durch eine schwere, bei Neugeborenen auftretende Störung, die hauptsächlich Knaben betrifft, oder durch eine später auftretende (partielle) Formen der Krankheit. In beiden Fällen kommt es zu Episoden von Hyperammonämie, die tödlich verlaufen und zu neurologischen Folgeerscheinungen führen können."},"es":{"name":"Deficiencia de ornitina transcarbamilasa","synonyms":["Deficiencia de OCT","Deficiencia de OTC","Deficiencia de ornitina carbamil transferasa"],"definition":"Es un trastorno del metabolismo del ciclo de la urea y de la detoxificación de amonio, de origen genético y poco frecuente, caracterizado por una enfermedad grave de inicio neonatal descrita principalmente en varones, o por formas de la enfermedad de inicio tardío (parciales). Ambas formas se presentan con episodios de hiperamonemia que pueden ser letales o derivar en secuelas neurológicas."},"it":{"name":"Deficit di ornitina transcarbamilasi","synonyms":["Deficit di OCT","Deficit di OTC","Deficit di ornitina carbamoiltransferasi"],"definition":"Il deficit di ornitina transcarbamilasi (OTCD) è un difetto genetico raro del metabolismo del ciclo dell'urea e della detossificazione da ammoniaca, che comprende una forma grave ad esordio neonatale, osservata per lo più nei maschi, e forme parziali ad esordio più tardivo. In entrambi i casi la malattia esordisce con episodi di iperammoniemia, potenzialmente letali, che possono causare sequele neurologiche."},"nl":{"name":"Ornithinetranscarbamylasedeficiëntie","synonyms":["OCT-deficiëntie","OTC-deficiëntie","Ornithine-carbamoyltransferasedeficiëntie"],"definition":"Een zeldzame, genetische stoornis van ureumcyclus en van detoxificatie van ammonium, gekarakteriseerd door ofwel een ernstige, neonataal aanvangende ziekte die vooral bij mannen wordt aangetroffen, ofwel later aanvangende (partiële) vormen van de ziekte. Beide presenteren zich met episodes van hyperammoniëmie die fataal kunnen zijn en die kunnen leiden tot neurologische restverschijnselen."},"pt":{"name":"Deficiência de ornitina carbamoiltransferase","synonyms":["Deficiência de OCT"],"definition":"Uma doença genética rara do metabolismo do ciclo da ureia e da desintoxicação da amónia, caracterizada por uma doença grave de início neonatal, encontrada principalmente nos homens, ou por formas de início tardio (parciais) da doença. Ambas se manifestam com episódios de hiperamonémia que podem ser fatais e levar a sequelas neurológicas."},"pl":{"name":"Niedobór transkarbamylazy ornityny","synonyms":["Niedobór karbamylotransferazy ornityny","Niedobór OCT","Niedobór OTC"],"definition":"Rzadkie, genetycznie uwarunkowane zaburzenie cyklu mocznikowego i detoksykacji amoniaku, charakteryzujące się albo ciężką chorobą rozpoczynającą się w okresie noworodkowym, występującą głównie u mężczyzn, albo chorobą o łagodniejszym przebiegu i późniejszym początku. W obu postaciach występują epizody hiperamonemii, które mogą prowadzić do następstw neurologicznych i mieć przebieg śmiertelny."},"cs":{"name":"Deficit ornitintranskarbamylázy","synonyms":["OTC deficit","Deficit OTC","Deficit ornitin karbamoyltransferázy"]},"uk":{"name":"Дефіцит орнітинтранскарбамілази","synonyms":["Дефіцит OCT","Дефіцит орнітинкарбамоїлтрансферази","Дефіцит OTC"],"definition":"A rare, genetic disorder of urea cycle metabolism and ammonia detoxification characterized by either a severe, neonatal-onset disease found mainly in males, or later-onset (partial) forms of the disease. Both present with episodes of hyperammonemia that can be fatal and which can lead to neurological sequelae."},"zh":{"name":"鸟氨酸氨甲酰转移酶缺乏症","synonyms":["鸟氨酸氨基甲酰转移酶缺乏症"]},"tr":{"name":"Ornitin transkarbamilaz eksikliği","synonyms":["OCT eksikliği","OTC eksikliği","Ornitin karbamoiltransferaz eksikliği"]}},"xrefs":[{"source":"OMIM","code":"311250","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.4","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C50.AY","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1822444026"},{"source":"MONDO","code":"0010703","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020163","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268542","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8391","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10052450","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":79167,"name":"Disorder of urea cycle metabolism and ammonia detoxification","classifications":[150,156]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[],"genes":[{"symbol":"OTC","name":"ornithine transcarbamylase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"24006547[PMID]","hgnc":"8512","ensembl":"ENSG00000036473","omim":"300461","loci":["Xp11.4"]}],"genes_via_subtypes":[],"inheritance":["X-linked recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Europe","status":"Validated","source":"European Medicines Agency 2018[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.4,"area":"Italy","status":"Validated","source":"11953730[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.29,"area":"Australia","status":"Validated","source":"15050980[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.6,"area":"Finland","status":"Validated","source":"18616627[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.88,"area":"Canada","status":"Validated","source":"12788994[PMID]_10617747[PMID]_ORPHANET_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.77,"area":"United States","status":"Validated","source":"23972786[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.77,"area":"Worldwide","status":"Validated","source":"23972786[PMID]_[EXPERT]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-04-03","source":"11124797[PMID]_24006547[PMID]_PNDS 2021[OTHER]","terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001399","label":"Hepatic failure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002039","label":"Anorexia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002329","label":"Drowsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001298","label":"Encephalopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005961","label":"Hypoargininemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002045","label":"Hypothermia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001254","label":"Lethargy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003572","label":"Low plasma citrulline","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003218","label":"Oroticaciduria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002033","label":"Poor suck","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002038","label":"Protein avoidance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001950","label":"Respiratory alkalosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007018","label":"Attention deficit hyperactivity disorder","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002908","label":"Conjugated hyperbilirubinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031258","label":"Delirium","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002572","label":"Episodic vomiting","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001508","label":"Failure to thrive","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003645","label":"Prolonged partial thromboplastin time","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null}]}}