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Results 1 - 5 of 5 for Congenital bile acid synthesis defect 1
  1. Congenital bile acid synthesis defect type 1 
    ... C27-steroid oxidoreductase deficiency CBAS1 Genetic Testing Registry: Congenital bile acid synthesis defect 1 Congenital bile acid synthesis defect type 1 National ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-1 - Genetics
  2. HSD3B7 gene 
    ... the HSD3B7 gene have been found to cause congenital bile acid synthesis defect type 1. This condition is characterized by cholestasis, a condition ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 1. More About This Health Condition 3 beta-hydroxy- ...
    https://medlineplus.gov/genetics/gene/hsd3b7 - Genetics
  3. Congenital bile acid synthesis defect type 2 
    ... synthesis defect type 2 is unknown. Together, all congenital defects of bile acid synthesis are thought to have a prevalence of 1 to 9 per million people. Mutations in the ...
    https://medlineplus.gov/...genital-bile-acid-synthesis-defect-type-2 - Genetics
  4. AKR1D1 gene 
    ... absorbed, leading to the signs and symptoms of congenital bile acid synthesis defect type 2. More About This Health Condition 3-oxo-5-beta-steroid 4-dehydrogenase 3o5bred 5-beta-reductase AK1D1_HUMAN aldo-keto reductase family 1, member D1 delta 4-3-ketosteroid-5-beta- ...
    https://medlineplus.gov/genetics/gene/akr1d1 - Genetics
  5. AMACR gene 
    ... in infants with a life-threatening disorder called congenital bile acid synthesis defect type 4. Babies with this disorder have cholestasis, ... first few months of life.Some researchers consider congenital bile acid synthesis defect type 4 and AMACR deficiency (see above) to ...
    https://medlineplus.gov/genetics/gene/amacr - Genetics