Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency (DISPORD)

Alias:
Congenital Adrenal Hyperplasia Due to Cytochrome P450 Oxidoreductase Deficiency
Por Deficiency
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase
Congenital Adrenal Hyperplasia Due to Cytochrome Por Deficiency
Disordered Steroidogenesis Due to Por Deficiency
Pord
Congenital Adrenal Hyperplasia Due to Apparent Combined P450c17 and P450c21 Deficiency
Adrenal Hyperplasia, Congenital, Due to Cytochrome P450 Oxidoreductase Deficiency
Adrenal Hyperplasia Congenital Due to Cytochrome P450 Oxidoreductase Deficiency
Steroidogenesis, Disordered, Due to Cytochrome P450 Oxidoreductase Deficiency
Antley-Bixler Syndrome with Disordered Steroidogenesis
Cytochrome P450 Oxidoreductase Deficiency
Dispord
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency, also known as congenital adrenal hyperplasia due to cytochrome p450 oxidoreductase deficiency, is related to cytochrome p450 oxidoreductase deficiency and antley-bixler syndrome with genital anomalies and disordered steroidogenesis. An important gene associated with Disordered Steroidogenesis Due to Cytochrome P450 Oxidoreductase Deficiency is POR (Cytochrome P450 Oxidoreductase). Affiliated tissues include ovary and bone, and related phenotypes are abnormality of the skeletal system and abnormal response to acth stimulation test
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
1-9/1000000
1
9
32

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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