Details of Disease

General Information of Disease (ID: DISDZ1YS)

• Disease Name: Crigler-Najjar syndrome
• Synonyms: Crigler Najjar syndrome; Crigler-Najjar syndrome; bilirubin UDP glucuronyl transferase deficiency; bilirubin-UGT deficiency; bilirubin uridinediphosphate glucuronosyltransferase deficiency; hereditary unconjugated hyperbilirubinemia; UGT deficiency; Crigler Najjar Syndrome
• Disease Class: 5C58: Inborn porphyrin/heme metabolism error
• Definition: Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2. CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DIS788JD: Hereditary hyperbilirubinemia
  DISDZ1YS: Crigler-Najjar syndrome
• ICD Code: ICD-11: ICD-11: 5C58.00
• Disease Identifiers:
  MONDO ID: MONDO_0009044
  MESH ID: D003414
  UMLS CUI: C5551003
  MedGen ID: 1789261
  Orphanet ID: 205
  SNOMED CT ID: 28259009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
AT-342	DMSOQ6E	Phase 1/2	Gene therapy	[1]

Molecular Interaction Atlas (MIA) of This Disease

References

• [1] ClinicalTrials.gov (NCT03223194) Gene Transfer Clinical Study in Crigler-Najjar Syndrome (VALENS). U.S. National Institutes of Health.