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:
|
(HPO:0001396) | Cholestasis | Very frequent [Orphanet] | 136 / 7739 | |||
|
(HPO:0000952) | Jaundice | 105 / 7739 | ||||
|
(HPO:0008282) | Unconjugated hyperbilirubinemia | 9 / 7739 | ||||
|
(OMIM) | Decreased or absent UDP-glucuronyl-transferase activity | 1 / 7739 | ||||
|
(OMIM) | Normal serum liver enzymes | 1 / 7739 | ||||
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
(OMIM) | Hyperbilirubinemia, unconjugated, <20mg/dl | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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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 ... |