{"orpha":300293,"name":"Transient infantile hypertriglyceridemia and hepatosteatosis","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Transient infantile hypertriglyceridemia and fatty liver"],"definition":"Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-300293/","orphanet_url":"https://www.orpha.net/en/disease/detail/300293","names":{"fr":{"name":"Hypertriglycéridémie transitoire et stéatose hépatique du nourrisson","definition":"Maladie hépatique rare d'origine génétique caractérisée par une hépatomégalie massive, une hypertriglycéridémie transitoire modérée à sévère et une stéatose hépatique (suivie d'une fibrose), se manifestant pendant la petite enfance par un retard de croissance staturo-pondérale, des vomissements, une hypertrophie de l'abdomen et une maladie du foie gras. La réduction ou la normalisation des taux sériques de triglycérides survient à mesure que le patient vieillit."},"de":{"name":"Transiente infantile Hypertriglyceridämie und Hepatosteatose","synonyms":["Hypertriglyceridämie, infantile regressive - Fettleber"]},"es":{"name":"Hipertrigliceridemia y esteatosis hepática infantil transitoria","synonyms":["Hipertrigliceridemia e hígado graso regresivos infantil"],"definition":"La hipertrigliceridemia y esteatosis hepática infantil transitoria es una enfermedad hepática, genética y poco frecuente, caracterizada por hepatomegalia masiva de moderada a grave, hipertrigliceridemia transitoria y esteatosis hepática (seguida de fibrosis), que se manifiesta en la lactancia con fallo de medro, vómitos, abdomen agrandado e hígado graso. La reducción o normalización de los niveles séricos de triglicéridos ocurre normalmente con el paso de los años."},"it":{"name":"Ipertrigliceridemia neonatale transitoria con steatosi epatica","synonyms":["Ipertrigliceridemia regressiva infantile e fegato grasso","Ipertrigliceridemia transitoria e fegato grasso nel neonato"],"definition":"L'ipertrigliceridemia neonatale transitoria con steatosi epatica è un'epatopatia genetica rara, caratterizzata da epatomegalia marcata, ipertrigliceridemia transitoria moderata-grave e steatosi epatica (seguita dalla fibrosi), che esordiscono nel periodo neonatale con ritardo della crescita, vomito, distensione dell'addome e steatosi epatica. Con la crescita, i livelli dei trigliceridi nel siero si riducono o si normalizzano."},"nl":{"name":"Transiënte infantiele hypertriglyceridemie en hepatosteatose","synonyms":["Voorbijgaande infantiele hypertriglyceridemie en leververvetting"],"definition":"Transiënte infantiele hypertriglyceridemie en hepatosteatose is een zeldzame, genetische leverziekte die gekarakteriseerd wordt door forse hepatomegalie, matige tot ernstige, transiënte hypertriglyceridemie en leversteatose (gevolgd door fibrose), en die zich manifesteert in de zuigelingentijd met groeiachterstand, braken, een uitgezet abdomen en een vette lever. Triglyceridegehaltes in het serum nemen af of normaliseren met het ouder worden."},"pt":{"name":"Hipertrigliceridemia e esteatose hepática da infância transitórias","synonyms":["Hipertrigliceridémia regressiva e fígado gordo da infância transitórios"]},"pl":{"name":"Przejściowa hipertriglicerydemia dziecięca i stłuszczenie wątroby","synonyms":["Transient infantile hypertriglyceridemia and fatty liver"],"definition":"*Przejściowa hipertriglicerydemia dziecięca i stłuszczenie wątroby to rzadka, genetycznie uwarunkowana choroba wątroby, która charakteryzuje się masywnym powiększeniem wątroby, umiarkowaną lub ciężką, przemijającą hipertriglicerydemią i stłuszczeniem wątroby (a następnie zwłóknieniem). Klinicznie objawia się w w okresie niemowlęcym zahamowaniem rozwoju, wymiotami, powiększeniem brzucha i stłuszczeniem wątroby.Z wiekiem dochodzi do obniżenia lub normalizacji stężenia trójglicerydów w surowicy."},"cs":{"name":"Přechodná infantilní hypertriglyceridémie a hepatosteatóza","synonyms":["Přechodná infantilní hypertriglyceridémie a steatóza jater"]},"uk":{"name":"Транзиторна дитяча гіпертригліцеридемія та гепатостеатоз","synonyms":["Транзиторна дитяча гіпертригліцеридемія та жирова дистрофія печінки"],"definition":"Transient infantile hypertriglyceridemia and hepatosteatosis is a rare, genetic, hepatic disease characterized by massive hepatomegaly, moderate to severe, transient hypertriglyceridemia and hepatic steatosis (followed by fibrosis), manifesting in infancy with failure to thrive, vomiting, an enlarged abdomen and a fatty liver. Reduction or normalization of triglyceride serum levels occurs with advancing age."},"zh":{"name":"一过性婴儿型高甘油三酯血症","synonyms":["短暂性婴儿型高甘油三酯血症伴脂肪肝"],"definition":"暂时性婴儿高甘油三酯血症与肝脂肪变性是一种罕见的遗传性肝病，其特征是巨大的肝肿大，中重度暂时性高甘油三酯血症和肝脂肪变性（随后是纤维化），表现为婴儿期生长发育不良、呕吐、腹部肿大和脂肪肝。随着年龄的增长，血清甘油三酯水平降低或至正常。"},"tr":{"name":"Geçici infantil hipertrigliseridemi ve hepatosteatoz","synonyms":["Geçici infantil hipertrigliseridemi ve yağlı karaciğer"]}},"xrefs":[{"source":"OMIM","code":"614480","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"619324","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K76.0","qualifier":"NTBT","icd_relation":"attributed","validated":false},{"source":"ICD-11","code":"DB99.Y","qualifier":"NTBT","icd_relation":"attributed","validated":true},{"source":"MONDO","code":"0013771","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4751115","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":57146,"name":"Rare hepatic disease"},"parents":[{"orpha":156604,"name":"Genetic parenchymatous liver disease","classifications":[156]},{"orpha":101939,"name":"Rare parenchymal liver disease","classifications":[183]}],"children":[],"genes":[{"symbol":"CREB3L3","name":"cAMP responsive element binding protein 3 like 3","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"26427795[PMID]","hgnc":"18855","ensembl":"ENSG00000060566","omim":"611998","loci":["19p13.3"]},{"symbol":"GPD1","name":"glycerol-3-phosphate dehydrogenase 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"22226083[PMID]","hgnc":"4455","ensembl":"ENSG00000167588","omim":"138420","loci":["12q13.12"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy","Neonatal"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":11.0,"area":"Worldwide","status":"Validated","source":"22226083[PMID]_24549054[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET_22226083[PMID]_24549054[PMID]"}],"phenotypes":null}