{"orpha":2312,"name":"Transient familial neonatal hyperbilirubinemia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Lucey-Driscoll syndrome"],"definition":"A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-2312/","orphanet_url":"https://www.orpha.net/en/disease/detail/2312","names":{"fr":{"name":"Ictère néonatal transitoire","synonyms":["Hyperbilirubinémie néonatale transitoire","Syndrome de Lucey-Driscoll"],"definition":"Maladie hépatique génétique rare caractérisée par des taux de bilirubine sérique très élevés chez le nouveau-né, les patients présentant des signes cliniques d'un ictère au cours des premiers jours de vie. La maladie se résorbe généralement de manière spontanée, mais dans certains cas, peut évoluer vers un ictère nucléaire avec les symptômes correspondants (notamment léthargie, cris aigus, hypotonie, absence de réflexes, vomissements ou crises convulsives), pouvant entraîner un handicap chronique, voire le décès."},"de":{"name":"Transiente neonatale Hyperbilirubinämie, familiäre Form","synonyms":["Lucey-Driscoll-Syndrom"],"definition":"Eine seltene genetisch bedingte Lebererkrankung, die durch sehr hohe Serumbilirubinwerte bei Neugeborenen gekennzeichnet ist und sich klinisch als Gelbsucht in den ersten Lebenstagen äußert. Die Erkrankung bildet sich in der Regel von selbst zurück, kann aber in einigen Fällen zu einem Kernikterus mit entsprechenden Symptomen führen (u. a. Lethargie, lautes Schreien, Hypotonie, fehlende Reflexe, Erbrechen oder Krampfanfälle), die zu chronischer Behinderung und sogar zum Tod führen können."},"es":{"name":"Hiperbilirrubinemia transitoria neonatal familiar","synonyms":["Síndrome de Lucey-Driscoll"],"definition":"Es una enfermedad hepática, de origen genético y poco frecuente, caracterizada por unos niveles muy elevados de bilirrubina sérica en el neonato, que, clínicamente, se presenta con ictericia durante los primeros días de vida. Por lo general, el trastorno remite espontáneamente, aunque en algunos casos puede provocar kernícterus con sus síntomas correspondientes (incluyendo letargia, llanto agudo, hipotonía, ausencia de reflejos, vómitos o crisis epilépticas, entre otros), pudiendo resultar en discapacidad crónica e incluso fallecimiento."},"it":{"name":"Iperbilirubinemia neonatale transitoria familiare","synonyms":["Sindrome di Lucey-Driscoll"],"definition":"Si tratta di un'epatopatia genetica rara, caratterizzata da livelli molto elevati di bilirubina nel siero dei neonati, che presentano ittero nei primi giorni di vita. In genere la malattia si risolve spontaneamente, ma in alcuni casi può esitare nel kernittero (i cui sintomi comprendono la letargia, il pianto acuto, l'ipotonia, l'areflessia, il vomito e le crisi epilettiche), che può causare la disabilità cronica e persino la morte."},"nl":{"name":"Voorbijgaande familiale neonatale hyperbilirubinemie","synonyms":["Lucey-Driscollsyndroom"],"definition":"Een zeldzame, genetische leverziekte, gekarakteriseerd door zeer hoge bilirubinegehaltes in serum van een neonaat, en met geelzucht tijdens de eerste levensdagen als klinische presentatie. De aandoening gaat meestal vanzelf voorbij, maar kan in sommige gevallen echter leiden tot kernicterus met bijhorende symptomen (waaronder lethargie, hoogfrequent geween, hypotonie, afwezige reflexen, braken, of insulten), wat kan resulteren in chronische invaliditeit en zelfs overlijden."},"pt":{"name":"Hiperbilirrubinemia transitória neonatal familiar","synonyms":["Síndrome Lucey-Driscoll"]},"pl":{"name":"Przejściowa rodzinna hiperbilirubinemia noworodków","synonyms":["Zespół Lucey i Driscoll"]},"cs":{"name":"Tranzientní familiární neonatální hyperbilirubinémie","synonyms":["Luceyho-Driscollův syndrom","Lucey-Driscollův syndrom"]},"uk":{"name":"Транзиторна сімейна неонатальна гіпербілірубінемія","synonyms":["Синдром Люсі-Дрісколла"],"definition":"A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death."},"zh":{"name":"短暂性家族性新生儿高胆红素血症","synonyms":["Lucey-Driscoll综合征"]},"tr":{"name":"Geçici ailesel yenidoğan hiperbilirubinemisi","synonyms":["Lucey-Driscoll sendromu"]}},"xrefs":[{"source":"OMIM","code":"237900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"P59.8","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"ICD-11","code":"KA87.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0009383","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C562692","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270210","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"2791","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156601,"name":"Rare genetic hepatic disease","classifications":[156]},{"orpha":57146,"name":"Rare hepatic disease","classifications":[183]}],"children":[],"genes":[{"symbol":"UGT1A1","name":"UDP glucuronosyltransferase family 1 member A1","gene_type":"Disorder-associated locus","association":"Candidate gene tested in","status":"Not yet assessed","source":"23014115[PMID]","hgnc":"12530","ensembl":"ENSG00000241635","omim":"191740","loci":["2q37.1"]}],"genes_via_subtypes":[],"inheritance":[],"onset":["Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Class only","class":"Not yet documented","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}