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Neonatal intrahepatic cholestasis due to citrin deficiency

Disease definition

Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subtype of citrin deficiency (see this term) 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.

ORPHA:247598

  • Synonym(s):
    • NICCD
    • Neonatal intrahepatic cholestasis caused by citrin deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: E72.2
  • OMIM: 605814
  • UMLS: C1853942
  • MeSH: -
  • GARD: 10214
  • MedDRA: -

Additional information

Further information on this disease

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