Congenital Bile Acid Synthesis Defect (CBA)

Alias:
Cba
Cholestasis with Delta(4)-3-Oxosteroid-5-Beta-Reductase Deficiency
3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency
Bile Acid Synthesis Defect, Congenital, 1
Basd
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Congenital Bile Acid Synthesis Defect, also known as cba, is related to bile acid synthesis defect, congenital, 2 and bile acid synthesis defect, congenital, 5, and has symptoms including diarrhea and icterus. An important gene associated with Congenital Bile Acid Synthesis Defect is HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7), and among its related pathways/superpathways are Metabolism and Metabolism of steroids. Affiliated tissues include liver and lung, and related phenotype is Increased shRNA abundance (Z-score > 2).
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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Unknown
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16
78
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Medical Symptom

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Gene & Mutation

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Disease Model

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References Literature

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