Orphanet: Neonatal intrahepatic cholestasis due to citrin deficiency
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Neonatal intrahepatic cholestasis due to citrin deficiency

Disease definition

A mild subtype of citrin deficiency 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

Classification level: Disorder
  • 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: -

  A summary on this disease is available in Deutsch (2012) Español (2012) Français (2012) Italiano (2012) Nederlands (2012)

Detailed information

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Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

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