{"orpha":147,"name":"Carbamoyl-phosphate synthetase 1 deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["CPS1 deficiency","CPS1D","Carbamoyl-phosphate synthetase I deficiency","Carbamoyl-phosphate synthetase deficiency"],"definition":"A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-147/","orphanet_url":"https://www.orpha.net/en/disease/detail/147","names":{"fr":{"name":"Déficit en carbamoyl-phosphate synthétase 1","synonyms":["CPS1D","Déficit en CPS1","Déficit en carbamoyl-phosphate synthétase","Déficit en carbamoyl-phosphate synthétase I"],"definition":"Trouble rare et sévère du métabolisme du cycle de l'urée caractérisé soit par une hyperammoniémie sévère à début néonatal survenant quelques jours après la naissance et se manifestant par une léthargie, des vomissements, une hypothermie, des convulsions, un coma et le décès, soit par des symptômes (quelquefois) plus légers d'hyperammoniémie, survenant à tout âge, en dehors de la période néonatale."},"de":{"name":"Carbamoyl-Phosphat-Synthetase 1-Mangel","synonyms":["CPS1-Mangel","CPS1D"],"definition":"Eine seltene, schwere Störung des Harnstoffzyklus-Stoffwechsels, die typischerweise entweder bei Neugeborenen wenige Tage nach der Geburt auftritt und sich durch Lethargie, Erbrechen, Unterkühlung, Krampfanfälle, Koma und Tod äußert oder außerhalb der Neugeborenenperiode in jedem Alter mit (manchmal) milderen Symptomen einer Hyperammonämie auftritt."},"es":{"name":"Deficiencia de carbamoil-fosfato sintetasa 1","synonyms":["CPS1D","Deficiencia de CPS1","Deficiencia de carbamoil-fosfato sintetasa","Deficiencia de carbamoil-fosfato sintetasa I"],"definition":"Es un trastorno grave y poco frecuente del metabolismo del ciclo de la urea caracterizado típicamente por hiperamonemia grave de inicio neonatal que debuta pocos días después del nacimiento, manifestándose con letargia, vómitos, hipotermia, crisis epilépticas, coma y fallecimiento. También puede debutar a cualquier edad una vez transcurrido el periodo neonatal, ocasionalmente con síntomas más moderados de hiperamonemia."},"it":{"name":"Deficit di carbamil-fosfato sintetasi 1","synonyms":["CPS1D","Deficit di CPS1","Deficit di carbamil-fosfato sintetasi I","Deficit di carbamoil-fosfato sintasi 1","Deficit di carbamoil-fosfato sintetasi","Deficit di carbamoil-fosfato sintetasi 1"],"definition":"Il deficit di carbamil-fosfato sintetasi 1 (CPS1D) è un difetto raro e grave del metabolismo del ciclo dell'urea. La malattia può esordire nel periodo neonatale con grave iperammoniemia che si manifesta pochi giorni dopo la nascita, associata a letargia, vomito, ipotermia, crisi epilettiche, coma e morte; oppure può insorgere più tardivamente, a tutte le età, occasionalmente con forme più lievi di iperammoniemia."},"nl":{"name":"Deficiëntie van carbamoylfosfaatsynthetase 1","synonyms":["CPS-deficiëntie","CPS1-deficiëntie","CPS1D","Deficiëntie van carbamoylfosfaatsynthase","Deficiëntie van carbamoylfosfaatsynthetase","Deficiëntie van carbamoylfosfaatsynthetase I","Hyperammoniëmie door CPS-deficiëntie"],"definition":"Een zeldzame, ernstige stoornis van ureumcyclus, doorgaans gekarakteriseerd door ofwel neonatale aanvang van ernstige hyperammoniëmie die enkele dagen na de geboorte optreedt en zich manifesteert met lethargie, braken, hypothermie, insulten, coma en overlijden, ofwel aanvang op eender welke leeftijd buiten de neonatale periode van (soms) mildere symptomen van hyperammoniëmie."},"pt":{"name":"Deficiência de carbamoil-fosfato sintetase 1","synonyms":["CPS1D","Deficiência de CPS1","Deficiência de carbamoil-fosfato sintetase","Deficiência de carbamoil-fosfato sintetase I"]},"pl":{"name":"Niedobór syntetazy karbamoilofosforanowej I","synonyms":["CPS1D","Niedobór CPS1","Niedobór syntetazy karbamoilofosforanowej","Niedobór syntetazy karbamoilofosforanowej 1"]},"cs":{"name":"Deficit karbamoylfosfátsyntetázy 1","synonyms":["Deficit CPS1","CPS1D","Deficit karbamoylfosfátsyntetázy I","Deficit karbamoylfosfátsyntetázy"]},"uk":{"name":"Дефіцит карбамоїл-фосфатсинтетази 1","synonyms":["Дефіцит карбамоїл-фосфатсинтетази","Дефіцит карбамоїл-фосфатсинтетази I","Дефіцит CPS1","CPS1D"],"definition":"A rare, severe disorder of urea cycle metabolism typically characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia."},"zh":{"name":"氨甲酰磷酸合成酶Ⅰ缺乏","synonyms":["氨甲酰磷酸合成酶缺乏"]},"tr":{"name":"Karbamoil-fosfat sentetaz 1 eksikliği","synonyms":["CPS1D","CPS1 eksikliği","Karbamoil-fosfat sentetaz eksikliği","Karbamoil-fosfat sentetaz I eksikliği"]}},"xrefs":[{"source":"OMIM","code":"237300","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E72.2","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C50.A1","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"327894003"},{"source":"MONDO","code":"0009376","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D020165","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0751753","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7269","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10058297","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]}],"children":[],"genes":[{"symbol":"CPS1","name":"carbamoyl-phosphate synthase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"20800523[PMID]","hgnc":"2323","ensembl":"ENSG00000021826","omim":"608307","loci":["2q34"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["All ages"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Unknown","value":0.0,"area":"Worldwide","status":"Validated","source":"[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.19,"area":"Finland","status":"Validated","source":"18616627[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"20142522[PMID]_[EXPERT]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"<1 / 1 000 000","value":0.077,"area":"United States","status":"Validated","source":"23972786[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.125,"area":"Japan","status":"Validated","source":"2063931[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0003355","label":"Aminoaciduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001951","label":"Episodic ammonia intoxication","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0005961","label":"Hypoargininemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001252","label":"Hypotonia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Very frequent (99-80%)","criteria":null}]}}