hypoketotic hypoglycemia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A decreased concentration of glucose in the blood associated with a reduced concentration of ketone bodies. (Human Phenotype Ontology, HP_0001985)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001985
Similar Terms
Downloads & Tools

Genes

6 genes associated with the hypoketotic hypoglycemia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
DOLK dolichol kinase
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit