Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete (AICSR)

Alias:

Congenital Adrenal Insufficiency

P450scc Deficiency

Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal

Congenital Adrenal Insuffiency with 46, Xy Sex Reversal or 46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency

46,xy Difference of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency

46,xy Disorder of Sex Development-Adrenal Insufficiency Due to Cyp11a1 Deficiency

Adrenal Insufficiency, Congenital, with 46xy Sex Reversal, Partial or Complete

Adrenal Insufficiency Congenital with 46,xy Sex Reversal Partial or Complete

Adrenal Insufficiency, Congenital

Xy Sex Reversal-Adrenal Failure

Congenital Adrenal Hyperplasia

Adrenogenital Syndrome

Aicsr

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Adrenal Insufficiency, Congenital, with 46,xy Sex Reversal, Partial or Complete, also known as congenital adrenal insufficiency, 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 Infectious disease and Metabolism. The drugs Prednisone and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland and uterus, and related phenotypes are agenesis of corpus callosum and failure to thrive

Related ID：

MALACARDS：ADR056

OMIM：613743

MESH：D047808