Disease

Congenital Adrenal Hyperplasia

About the Disease
Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete, also known as p450scc deficiency, is related to premature ovarian failure 7 and acute adrenal insufficiency. An important gene associated with Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete is CYP11A1 (Cytochrome P450 Family 11 Subfamily A Member 1), and among its related pathways/superpathways are Metabolism and Disease. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, uterus and bone, and related phenotypes are agenesis of corpus callosum and failure to thrive

Common Targets
CYP17A1 | POR | CYP21A2 | CYB5A | POMC | CRH | STAR | MC2R | CYP21A1P | CYP11A1 | NR5A1 | CEP290 | CYP11B1 | CYP3A7 | AKR1C3 | LINC02210-CRHR1 | CRHR1 | NR0B1 | SOX9 | Sterol O-acyltransferase (ACAT) (nonspecified subtype) | TNXB | PORCN | HSD17B3 | HSD3B2 | FBN1 | NR3C1

疾病靶点研报
Congenital Adrenal Hyperplasia

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