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Crigler-Najjar syndrome type 1
1 OMIM reference -
1 associated gene
3 connected diseases
9 signs/symptoms
Disease Type of connection
Crigler-Najjar syndrome type 2
Transient familial neonatal hyperbilirubinemia
Congenital dyserythropoietic anemia type II
Synonym(s):
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
- Bilirubin-UGT deficiency type 1
- Hereditary unconjugated hyperbilirubinemia type 1
- UGT deficiency type 1
Classification (Orphanet):
- Inborn errors of metabolism
- Rare genetic disease
- Rare hepatic disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536212
Gene symbol UniProt reference OMIM reference
UGT1A1 P22309191740
Very frequent
- Autosomal recessive inheritance
- Functional anomalies of the liver and the biliary tract
- Hepatitis / icterus / cholestasis

Occasional
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Motor deficit / trouble
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Seizures / epilepsy / absences / spasms / status epilepticus
- Troubles of memory / amnesia / hypermnesia