Cytochrome P450 Oxidoreductase Deficiency (PORD)

Cytochrome P450 Oxidoreductase Deficiency(来自ICD-11)

别称:

Por Deficiency

Antley-Bixler Syndrome with Disordered Steroidogenesis

Pord

Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency

Antley-Bixler Syndrome-Like Phenotype with Disordered Steroidogenesis

Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase

Antley-Bixler Syndrome, Autosomal Dominant

Antley-Bixler Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Cytochrome P450 Oxidoreductase Deficiency, also known as por deficiency, is related to disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. An important gene associated with Cytochrome P450 Oxidoreductase Deficiency is POR (Cytochrome P450 Oxidoreductase), and among its related pathways/superpathways are Metabolism and Metapathway biotransformation Phase I and II. Affiliated tissues include bone and temporal lobe, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance

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