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Crigler-Najjar syndrome type 2
1 OMIM reference -
1 associated gene
3 connected diseases
2 signs/symptoms
Disease Type of connection
Crigler-Najjar syndrome type 1
Transient familial neonatal hyperbilirubinemia
Congenital dyserythropoietic anemia type II
Synonym(s):
- Arias syndrome
- Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
- Bilirubin-UGT deficiency type 2
- Hereditary unconjugated hyperbilirubinemia type 2
- UGT deficiency type 2
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: childhood
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C536213
Gene symbol UniProt reference OMIM reference
UGT1A1 P22309191740
Very frequent
- Autosomal recessive inheritance
- Hepatitis / icterus / cholestasis