Adrenogenital Syndrome Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Adrenogenital syndrome is also known as congenital adrenal hyperplasia, which results from disorders of steroid hormone production in the adrenal glands leading to a deficiency of cortisol. The pituitary gland reacts by increased secretion of corticotropin, which in turn causes the adrenal glands to overproduce certain intermediary hormones which have testosterone-like effects. (Human Phenotype Ontology, HP_0000840)
External Link https://www.disgenet.org/browser/0/1/0/C0302280
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Genes

16 genes associated with the disease Adrenogenital Syndrome in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACADVL acyl-CoA dehydrogenase, very long chain
ATP7B ATPase, Cu++ transporting, beta polypeptide
CYP11B1 cytochrome P450, family 11, subfamily B, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP21A2 cytochrome P450, family 21, subfamily A, polypeptide 2
EYS eyes shut homolog (Drosophila)
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
OTOA otoancorin
POR P450 (cytochrome) oxidoreductase
PROP1 PROP paired-like homeobox 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
STAR steroidogenic acute regulatory protein
TGM5 transglutaminase 5
VWF von Willebrand factor