5C52.11

ICD-11 MMS 2026-01

Bile acid synthesis defect with cholestasis

Description

Anomalies of bile acid synthesis are a group of sterol metabolism disorders due to enzyme deficiencies of bile acid synthesis in infants, children and adults, with variable manifestations that include cholestasis, neurological disease, and fat malabsorption. Eight inborn errors have been clearly identified, 7 of which lead to liver cholestasis and include: 3β-hydroxy-C27-steroid oxidoreductase deficiency (type 1), Δ4-3-oxosteroid 5β-reductase deficiency (type 2), oxysterol 7α-hydroxylase deficiency (type 3), 2-methylacyl-CoA racemase deficiency (type 4), bile acid CoA ligase deficiency, and cerebrotendinous xanthomatosis. Cholesterol 7α-hydroxylase deficiency leads to hypercholesterolaemia without liver cholestasis.

Index terms

  • Bile acid synthesis defect with cholestasis
  • Anomaly of bile acid synthesis
  • Cerebrotendinous xanthomatosis
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  • CTX - [Cerebrotendinous xanthomatosis]
  • Cholestanol storage disease
  • Sterol 27-hydroxylase deficiency
  • Van Bogaert-Scherer-Epstein disease
  • Congenital bile acid synthesis defect type 1
  • 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency
  • 3-beta-hydroxysterol delta5-oxidoreductase/isomerase deficiency
  • Progressive familial intrahepatic cholestasis type 4
  • Congenital bile acid synthesis defect type 2
  • Delta(4)-3-oxysterol 5-beta-reductase deficiency
  • Congenital bile acid synthesis defect type 3
  • Oxysterol 7-alpha-hydroxylase deficiency
  • Congenital bile acid synthesis defect type 4
  • AMACR deficiency
  • Alpha-methyl-acyl-CoA racemase deficiency
  • Liver disease - retinitis pigmentosa - polyneuropathy - epilepsy

Exclusions from above levels

  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
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  • 5A81.1 – 5-alpha-reductase deficiency
  • LD28.01 – Marfan syndrome
  • LD28.1 – Ehlers-Danlos syndrome
  • LD2A.4 – androgen resistance syndrome
  • 18 – Pregnancy, childbirth or the puerperium
  • http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

  • 5C52.10 – Disorders of cholesterol synthesis
  • 5C52.1Y – Other specified inborn errors of sterol metabolism
  • 5C52.1Z – Inborn errors of sterol metabolism, unspecified

Foundation entity

Bile acid synthesis defect with cholestasis – http://id.who.int/icd/entity/1295299670

Allowed postcoordination axes

Part of: 5C52.1: Inborn errors of sterol metabolism › 5C52: Inborn errors of lipid metabolism › 05: Endocrine, nutritional or metabolic diseases