Crigler-Najjar syndrome type 2

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II
HBLRCN2
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2
UGT deficiency type 2
Hereditary unconjugated hyperbilirubinemia type 2
Arias syndrome
Bilirubin-UGT deficiency type 2
Number of Symptoms 7
OrphanetNr: 79235
OMIM Id: 606785
ICD-10: E80.5
UMLs: C0268311
C2931132
MeSH: C536213
MedDRA: 10011387
Snomed: 68067009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Crigler-Najjar syndrome
 -Rare genetic disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
(HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
2
(HPO:0000952) Jaundice 105 / 7739
3
(HPO:0008282) Unconjugated hyperbilirubinemia 9 / 7739
4
(OMIM) Decreased or absent UDP-glucuronyl-transferase activity 1 / 7739
5
(OMIM) Normal serum liver enzymes 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Hyperbilirubinemia, unconjugated, <20mg/dl 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The hereditary hyperbilirubinemias (Wolkoff et al., 1983) include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome ...
Clinical Description OMIM Type I and type II Crigler-Najjar syndrome are distinguished on the basis of the following clinical criteria: in type I, total serum bilirubin ranges from 20 to 45 mg/dL, whereas in type II, total serum bilirubin ranges from ...
Molecular genetics OMIM Moghrabi et al. (1993) described a point mutation in the UGT1 gene complex (191740.0005) in a 72-year-old man with Crigler-Najjar syndrome type II who was the product of a consanguineous marriage of Irish descent. The patient was one ...