{"orpha":446,"name":"Neonatal hemochromatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-446/","orphanet_url":"https://www.orpha.net/en/disease/detail/446","names":{"fr":{"name":"Hémochromatose néonatale","definition":"Maladie rare de stockage du fer présente à la naissance et caractérisée par l'association d'une insuffisance hépatocellulaire sévère associée à une hyperbilirubinémie, à des signes d'hémorragie, un oedème, une ascite, une hypoglycémie et une acidose lactique et à une élévation des transaminases faible, voire nulle. Il s'agit d'une entité distincte qui diffère des autres formes d'hémochromatose sur le plan de la pathogenèse et de l'origine moléculaire."},"de":{"name":"Hämochromatose, neonatale","definition":"Eine seltene Eisenspeicherkrankheit, die von Geburt an auftritt und durch eine schwere Leberzellinsuffizienz mit Hyperbilirubinämie, Blutungszeichen, Ödemen, Aszites, Hypoglykämie und Laktatazidose bei geringer oder fehlender Erhöhung der Transaminasen gekennzeichnet ist. Es handelt sich um eine eigenständige Entität, die sich von anderen Formen der Hämochromatose hinsichtlich Pathogenese und molekularem Ursprung unterscheidet."},"es":{"name":"Hemocromatosis neonatal","definition":"Es un trastorno poco frecuente de almacenamiento de hierro, presente al nacimiento, caracterizado por la asociación de insuficiencia hepatocelular grave con hiperbilirrubinemia, signos de hemorragia, edema, ascitis, hipoglucemia y acidosis láctica con poca o ninguna elevación de las transaminasas. Es una entidad distinta que se diferencia de las otras formas de hemocromatosis en base a su patogenia y origen molecular."},"it":{"name":"Emocromatosi neonatale"},"nl":{"name":"Neonatale hemochromatose","synonyms":["Neonatale ijzerstapelingsziekte"],"definition":"Een zeldzame ijzerstapelingsziekte aanwezig bij de geboorte, gekenmerkt door de associatie van ernstig hepatocellulair falen met hyperbilirubinemie, verschijnselen van hemorragie, oedeem, ascites, hypoglycemie, en lactaatacidose met weinig tot geen toename van transaminasen. Het gaat om een aparte entiteit die verschilt van andere vormen van hemochromatose wat betreft pathogenese en moleculaire oorsprong."},"pt":{"name":"Hemocromatose neonatal","definition":"Doença rara de armazenamento de ferro presente ao nascimento, caracterizada pela associação de insuficiência hepatocelular grave com hiperbilirrubinemia, sinais de hemorragia, edema, ascite, hipoglicemia e acidose láctica, com pouca ou nenhuma elevação das transaminases. É uma entidade distinta que difere de outras formas de hemocromatose em relação à sua patogénese e origem molecular."},"pl":{"name":"Hemochromatoza noworodkowa","definition":"Rzadkie zaburzenie gromadzenia żelaza występujące od urodzenia, charakteryzujące się współistnieniem ciężkiej niewydolności hepatocytów z hiperbilirubinemią, krwotokami, obrzękiem, wodobrzuszem, hipoglikemią i kwasicą mleczanową, przy prawidłowej lub nieco zwiększonej aktywności aminotransferaz. Jest to odrębna jednostka chorobowa, różniąca się od innych postaci hemochromatozy patogenezą i podłożem molekularnym."},"cs":{"name":"Neonatální hemochromatóza","synonyms":["NH"]},"uk":{"name":"Неонатальний гемохроматоз","definition":"A rare iron storage disorder present at birth characterized by the association of severe hepatocellular failure with hyperbilirubinemia, signs of hemorrhage, edema, ascites, hypoglycemia, and lactic acidosis with little to no elevation of transaminases. It is a distinct entity that differs from other forms of hemochromatosis with respect to its pathogenesis and molecular origin."},"zh":{"name":"新生儿血色病"},"tr":{"name":"Yenidoğan hemokromatozu"}},"xrefs":[{"source":"OMIM","code":"231100","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E83.1","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"5C64.10","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1476368232"},{"source":"MONDO","code":"0009275","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C536394","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0268059","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"7172","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10078355","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":309842,"name":"Disorder of iron metabolism and transport","classifications":[150,156]},{"orpha":506210,"name":"Rare disorder potentially indicated for liver transplant","classifications":[233]},{"orpha":101940,"name":"Rare metabolic liver disease","classifications":[156,183]}],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":35.0,"area":"Worldwide","status":"Validated","source":"21247995[PMID]_16237701[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2016-06-01","source":null,"terms":[{"hpo":"HP:0100542","label":"Abnormal localization of kidney","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000463","label":"Anteverted nares","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006709","label":"Aplasia/Hypoplasia of the nipples","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000581","label":"Blepharophimosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002612","label":"Congenital hepatic fibrosis","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001943","label":"Hypoglycemia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003281","label":"Increased circulating ferritin concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003452","label":"Increased circulating iron concentration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000347","label":"Micrognathia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006579","label":"Prolonged neonatal jaundice","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000448","label":"Prominent nose","frequency":"Very frequent (99-80%)","criteria":null}]}}