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: -

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Clinical practice guidelines
Deutsch (2012)

Clinical genetics review
English (2017)

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