← 返回搜尋

Neonatal intrahepatic cholestasis due to citrin deficiency

ORPHA:247598 · Disease · Disorder

HPO 表現型（共 41 項）

Very frequent (99-80%)(15)

  • Abnormal circulating lipid concentrationHP:0003119
  • CholestasisHP:0001396
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Elevated circulating alkaline phosphatase concentrationHP:0003155
  • Elevated circulating alpha-fetoprotein concentrationHP:0006254
  • Elevated gamma-glutamyltransferase levelHP:0030948
  • Elevated plasma citrullineHP:0011966
  • HyperbilirubinemiaHP:0002904
  • HypergalactosemiaHP:0012024
  • HypertriglyceridemiaHP:0002155
  • HypoalbuminemiaHP:0003073
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • JaundiceHP:0000952
  • Lactic acidosisHP:0003128
  • Prolonged prothrombin timeHP:0008151

Frequent (79-30%)(12)

  • Abnormal circulating alanine concentrationHP:0010916
  • Abnormal circulating arginine concentrationHP:0010909
  • Abnormal circulating glutamine concentrationHP:0010903
  • DiarrheaHP:0002014
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Failure to thrive in infancyHP:0001531
  • Hepatic steatosisHP:0001397
  • HepatomegalyHP:0002240
  • HepatosplenomegalyHP:0001433
  • HyperammonemiaHP:0001987
  • HyperlysinemiaHP:0002161
  • HypertyrosinemiaHP:0003231

Occasional (29-5%)(12)

  • Abnormal circulating serine concentrationHP:0012278
  • AnemiaHP:0001903
  • Decreased circulating HDL-C concentrationHP:0003233
  • Elevated circulating LDL-C concentrationHP:0003141
  • Gastrointestinal hemorrhageHP:0002239
  • HypercholesterolemiaHP:0003124
  • HypermethioninemiaHP:0003235
  • HyperthreoninemiaHP:0003354
  • Increased urinary glycerolHP:0040301
  • Intrauterine growth retardationHP:0001511
  • KetonuriaHP:0002919
  • Poor appetiteHP:0004396

Very rare (<4-1%)(2)

  • Abnormal bleedingHP:0001892
  • CataractHP:0000518