Carnitine acylcarnitine translocase deficiency Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy. (Orphanet Rare Disease Ontology, Orphanet_159)
External Link
Similar Terms
Downloads & Tools


1 genes associated with the Carnitine acylcarnitine translocase deficiency phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20