neonatal intrahepatic cholestasis due to citrin deficiency
Findings
No curated finding names neonatal intrahepatic cholestasis due to citrin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Neonatal intrahepatic cholestasis due to citrin deficiency is 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.
Definition from the Mondo Disease Ontology (MONDO:0011601), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Neonatal onset
HPO, annotations 2026-09-02
Features
49 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 3 of 3 reported patients
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 3 of 3 reported patients
- Elevated circulating alkaline phosphatase concentrationHPOHP:0003155
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 3 of 3 reported patients
- Elevated circulating citrulline concentrationHPOHP:0011966
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SLC25A13HGNC:10983
- Definitive · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: neonatal intrahepatic cholestasis due to citrin deficiency
- Also called
- neonatal intrahepatic cholestasis caused by citrin deficiencyNICCD