Congenital Bile Acid Synthesis Defect (HSD3B7)

Congenital bile acid synthesis defect (HSD3B7-related) is an autosomal recessive disorder caused by pathogenic variants in the gene HSD3B7. Most individuals affected with this disorder begin to manifest symptoms in the first week of life, presenting with failure to thrive and secondary coagulopathy. This disorder’s characteristics include progressive liver disease with cholestatic jaundice and defective absorption of lipids and vitamins such as A, D, E and K from the gastrointestinal tract. The malabsorption of Vitamin D causes bones to soften and/or weaken, and as the disease progresses, the liver or spleen can become enlarged with progression to liver cirrhosis, which may require an organ transplant. Individuals with inborn errors of bile acid synthesis respond well to oral bile acid therapy. Life expectancy is currently unknown, but if left untreated this disorder can result in an early death.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):