Adult-onset citrullinemia type 2 Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Citrullinemia type 2 is a severe subtype of citrin deficiency (see this term) characterized clinically by adult onset (20 and 50 years of age), recurrent episodes of hyperammonemia and associated neuropsychiatric symptoms such as nocturnal delirium, confusion, restlessness, disorientation, drowsiness, memory loss, abnormal behavior (aggression, irritability, and hyperactivity), seizures, and coma. (Orphanet Rare Disease Ontology, Orphanet_247585)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C538053
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Genes

1 genes/proteins associated with the disease Adult-onset citrullinemia type 2 from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
SLC25A13 solute carrier family 25 (aspartate/glutamate carrier), member 13 2.88009