Bile Acid Synthesis Defect, Congenital, 1 (CBAS1)

Alias:

Congenital Bile Acid Synthesis Defect 1

3-Beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

Cbas1

Congenital Bile Acid Synthesis Defect Type 1

Basd1

3beta-Hydroxy-Delta-5-C27-Steroid Oxidoreductase Deficiency

3beta-Hydroxy-Delta-5-C27-Steroid Dehydrogenase Deficiency

Progressive Familial Intrahepatic Cholestasis Type 4

Cholestasis, Progressive Familial Intrahepatic 4

Bile Acid Synthesis Defect, Congenital, Type 1

Neonatal Progressive Intrahepatic Cholestasis

3beta-Hsdh Deficiency

Pfic4

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Bile Acid Synthesis Defect, Congenital, 1, also known as congenital bile acid synthesis defect 1, is related to cholestasis, progressive familial intrahepatic, 4 and congenital bile acid synthesis defect, and has symptoms including diarrhea and icterus. An important gene associated with Bile Acid Synthesis Defect, Congenital, 1 is HSD3B7 (Hydroxy-Delta-5-Steroid Dehydrogenase, 3 Beta- And Steroid Delta-Isomerase 7). Affiliated tissues include liver and spleen, and related phenotypes are failure to thrive and hepatomegaly

Related ID：

MALACARDS：BLC007

OMIM：607765

MESH：C535442