Conditions / Genetic
familial hypercholanemia 1
info · Genetic
A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mu
A steroid inherited metabolic disorder characterized by elevated concentrations of bile acids (usually conjugated), itching, and fat malabsorption, leading to poor overall growth and deficiencies of fat-soluble vitamins that has_material_basis_in homozygous mutation in the TJP2 gene on chromosome 9q21.
Signs and symptoms
- Fat malabsorption
- Decreased circulating vitamin K concentration
- Failure to thrive
- Steatorrhea
- Rickets
- Pruritus
- Increased serum bile acid concentration