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: -

Detailed information

Article for general public

Professionals

Clinical practice guidelines
Deutsch (2012)

Guidance for genetic testing
Français (2015, pdf)

Clinical genetics review
English (2017)

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Eurordis directory

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.