{"orpha":247598,"name":"Neonatal intrahepatic cholestasis due to citrin deficiency","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["NICCD","Neonatal intrahepatic cholestasis caused by citrin deficiency"],"definition":"A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-247598/","orphanet_url":"https://www.orpha.net/en/disease/detail/247598","names":{"fr":{"name":"Cholestase intrahépatique néonatale par déficit en citrine","synonyms":["NICCD"],"definition":"La cholestase intrahépatique néonatale par déficit en citrine est un sous-type modéré du déficit en citrine caractérisé par un faible poids à la naissance, un retard de croissance staturo-pondérale, une cholestase intrahépatique transitoire, une amino-acidémie multiple, une galactosémie, une hypoprotéinemie, une hépatomégalie, une diminution des facteurs de la coagulation, une anémie hémolytique, une dysfonction hépatique variable mais le plus souvent modérée et une hypoglycémie."},"de":{"name":"Neonatale intrahepatische Cholestase durch Citrin-Mangel","synonyms":["NICCD"],"definition":"Die neonatale intrahepatische Cholestase durch Citrin-Mangel ist ein milder Subtyp des Citrin-mangels (s. dort) und klinisch gekennzeichnet durch niedriges Geburtsgewicht, Gedeihsstörung, verzögertes Wachstum, transiente intrahepatische Cholestase, multiple Aminoazidämie, Galaktosämie, Hypoproteinämie, Hepatomegalie, verminderte Gerinnungsfaktoren, hämolytische Anämie, unterschiedlich schwere aber meist leichte Leberfunktionsstörung und Hypoglykämie."},"es":{"name":"Colestasis intrahepática neonatal por deficiencia de citrina","synonyms":["NICCD"],"definition":"Es un subtipo leve del déficit de citrina que se caracteriza clínicamente por bajo peso al nacer, fallo de medro, retraso del crecimiento, colestasis intrahepática transitoria, aminoacidemia múltiple, galactosemia, hipoproteinemia, hepatomegalia, disminución de los factores de coagulación, anemia hemolítica, disfunción hepática variable aunque mayoritariamente leve, e hipoglucemia."},"it":{"name":"Colestasi intraepatica neonatale da deficit di citrina","synonyms":["Colestasi intraepatica neonatale dovuta a deficit di citrina","NICCD"],"definition":"La colestasi intraepatica neonatale da deficit di citrina è una forma lieve di deficit di citrina (si veda questo termine) caratterizzata da basso peso alla nascita, ritardo della crescita, colestasi intraepatica transitoria, aminoacidemia multipla, galattosemia, ipoproteinemia, epatomegalia, riduzione dei fattori della coagulazione, anemia emolitica, disfunzione epatica variabile, per lo più lieve, e ipoglicemia."},"nl":{"name":"Neonatale intrahepatische cholestase door deficiëntie van citrine","synonyms":["NICCD","Neonatale intrahepatische cholestase veroorzaakt door citrinedeficiëntie"],"definition":"Een mild subtype van citrinedeficiëntie, klinisch gekarakteriseerd door laag geboortegewicht, groeifalen, transiënte intrahepatische cholestase, multipele aminoacidemie, galactosemie, hypoproteïnemie, hepatomegalie, verminderde hoeveelheid coagulatiefactoren, hemolytische anemie, variabele maar meestal milde leverdisfunctie, en hypoglycemie."},"pt":{"name":"Colestase intra-hepática neonatal por défice de citrina"},"pl":{"name":"Cholestaza wewnątrzwątrobowa noworodków z powodu niedoboru cytrynianu","synonyms":["Cholestaza wewnątrzwątrobowa noworodków wywołana przez Niedobór cytrynianu","NICCD"]},"cs":{"name":"Neonatální intrahepatální cholestáza způsobená deficitem citrinu","synonyms":["NICCD","Neonatální intrahepatální cholestáza zpusobená deficitem citrinu","Neonatální intrahepatální cholestáza způsobená deficitem citrinu"]},"uk":{"name":"Неонатальний внутрішньопечінковий холестаз внаслідок дефіциту цитрину","synonyms":["Неонатальний внутрішньопечінковий холестаз, спричинений дефіцитом цитрину","NICCD"],"definition":"A mild subtype of citrin deficiency characterized clinically by low birth weight, failure to thrive, transient intrahepatic cholestasis, multiple aminoacidemia, galactosemia, hypoproteinemia, hepatomegaly, decreased coagulation factors, hemolytic anemia, variable but mostly mild liver dysfunction, and hypoglycemia."},"zh":{"name":"柠檬酸缺乏所致新生儿肝内胆汁淤积症","synonyms":["柠檬素缺乏所致新生儿肝内胆汁淤积症"],"definition":"希特林缺乏症的一种轻度亚型，临床表现为低出生体重、体重增长不良、一过性肝内胆汁淤积、多种氨基酸血症、半乳糖血症、低蛋白血症、肝肿大、凝血因子减少、溶血性贫血、可变但多为轻度的肝功能障碍、低血糖。"},"tr":{"name":"Sitrin eksikliğine bağlı Yenidoğan intrahepatik kolestaz","synonyms":["NICCD","Sitrin eksikliğinden kaynaklanan yenidoğan intrahepatik kolestaz"]}},"xrefs":[{"source":"OMIM","code":"605814","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.A3","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"987981591"},{"source":"MONDO","code":"0011601","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1853942","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10214","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":247582,"name":"Citrin deficiency","classifications":[150,156]}],"children":[],"genes":[{"symbol":"SLC25A13","name":"solute carrier family 25 member 13","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301360[PMID]","hgnc":"10983","ensembl":"ENSG00000004864","omim":"603859","loci":["7q21.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"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":"2019-10-10","source":"16311094[PMID]_19185551[PMID]_23430852[PMID]_21424115[PMID]_12424587[PMID]","terms":[{"hpo":"HP:0003119","label":"Abnormal circulating lipid concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001396","label":"Cholestasis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0004313","label":"Decreased circulating antibody level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006254","label":"Elevated alpha-fetoprotein","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003155","label":"Elevated circulating alkaline phosphatase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0030948","label":"Elevated gamma-glutamyltransferase level","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011966","label":"Elevated plasma citrulline","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002904","label":"Hyperbilirubinemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0012024","label":"Hypergalactosemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002155","label":"Hypertriglyceridemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003073","label":"Hypoalbuminemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0025435","label":"Increased circulating lactate dehydrogenase concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000952","label":"Jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003128","label":"Lactic acidosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008151","label":"Prolonged prothrombin time","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010916","label":"Abnormal circulating alanine concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010909","label":"Abnormality of arginine metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010903","label":"Abnormality of glutamine metabolism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001531","label":"Failure to thrive in infancy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001397","label":"Hepatic steatosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001433","label":"Hepatosplenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001987","label":"Hyperammonemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002161","label":"Hyperlysinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003231","label":"Hypertyrosinemia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012278","label":"Abnormality of serine metabolism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001903","label":"Anemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003233","label":"Decreased HDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002239","label":"Gastrointestinal hemorrhage","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003235","label":"Hypermethioninemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003354","label":"Hyperthreoninemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003141","label":"Increased LDL cholesterol concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040301","label":"Increased urinary glycerol","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001511","label":"Intrauterine growth retardation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002919","label":"Ketonuria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004396","label":"Poor appetite","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001892","label":"Abnormal bleeding","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Very rare (<4-1%)","criteria":null}]}}