5C58.00

ICD-11 MMS 2026-01

Crigler-Najjar syndrome

Description

Crigler-Najjar syndrome is an autosomal recessive disorder of bilirubin metabolism characterised by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase activity. Two types have been described, CNS types 1 and 2, depending on whether the enzymatic deficit is complete or partial: clinical manifestations vary accordingly. Patients present with isolated jaundice that appears early in life. Biological analyses detect severe unconjugated hyperbilirubinemia with normal liver function tests. Abdominal imaging studies (plain X-rays, CT scans or ultrasonograms) and liver histology findings are normal. Diagnosis is generally confirmed by genomic DNA analysis.

Index terms

  • Crigler-Najjar syndrome
  • Bilirubin UDP glucuronyl transferase deficiency
  • Bilirubin uridinediphosphate glucuronosyltransferase deficiency
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  • Bilirubin-UGT deficiency
  • CNS - [Crigler-Najjar syndrome]
  • Hereditary unconjugated hyperbilirubinaemia
  • UGT deficiency
  • bilirubin glucuronosyltransferase deficiency
  • congenital familial nonhemolytic jaundice
  • crigler-najjar disease or syndrome
  • deficiency of glucuronosyltransferase
  • glucuronyl transferase deficiency
  • glucuronyltransferase deficiency
  • udp glucuronyl transferase deficiency
  • Crigler-Najjar syndrome type 1
  • Bilirubin glucuronyltransferase deficiency
  • Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
  • Bilirubin-UGT deficiency type 1
  • CNS1 - [Crigler-Najjar syndrome type 1]
  • Hereditary unconjugated hyperbilirubinaemia type 1
  • UGT deficiency type 1
  • Crigler-Najjar syndrome type 2
  • Arias syndrome
  • Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
  • Bilirubin-UGT deficiency type 2
  • CNS2 - [Crigler-Najjar syndrome type 2]
  • Hereditary unconjugated hyperbilirubinaemia type 2
  • UGT deficiency type 2

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

  • 5C58.01 – Gilbert syndrome
  • 5C58.02 – Dubin-Johnson syndrome
  • 5C58.03 – Progressive familial intrahepatic cholestasis
  • 5C58.04 – Benign recurrent intrahepatic cholestasis
  • 5C58.0Y – Other specified disorders of bilirubin metabolism or excretion
  • 5C58.0Z – Disorders of bilirubin metabolism or excretion, unspecified

Foundation entity

Crigler-Najjar syndrome – http://id.who.int/icd/entity/291439191

Part of: 5C58.0: Disorders of bilirubin metabolism or excretion › 5C58: Inborn errors of porphyrin or heme metabolism › 05: Endocrine, nutritional or metabolic diseases