citrin deficiency Gene Set

Dataset GAD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Citrin deficiency is a rare autosomal recessive urea cycle defect characterized clinically by recurring episodes of hyperammonemia and associated neuropsychiatric symptoms in the adult-onset form (citrullinemia type 2, see this term), and by transient cholestasis and variable hepatic dysfunction in the neonatal form (neonatal intrahepatic cholestasis due to citrin deficiency, see this term). (Orphanet Rare Disease Ontology, Orphanet_247582)
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Genes

1 genes associated with the disease citrin deficiency in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

Symbol Name
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13