Crigler-Najjar syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Bilirubin uridinediphosphate glucuronosyltransferase deficiency
Hereditary unconjugated hyperbilirubinemia
UGT deficiency
Bilirubin-UGT deficiency
Number of Symptoms 18
OrphanetNr: 205
OMIM Id: 218800
606785
ICD-10: E80.5
UMLs: C0010324
MeSH: D003414
MedDRA: 10011386
Snomed: 28259009

Prevalence, inheritance and age of onset:

Prevalence: 0.1 of 100 000 [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of bilirubin metabolism and excretion
 -Rare genetic disease
Metabolic liver disease
 -Rare genetic disease
 -Rare hepatic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000597) Ophthalmoparesis Occasional [Orphanet] 71 / 7739
2
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
3
 (HPO:0002141) Gait imbalance Occasional [Orphanet] 55 / 7739
4
 (HPO:0004372) Reduced consciousness/confusion Occasional [Orphanet] 73 / 7739
5
 (HPO:0001343) Kernicterus 4 / 7739
6
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
7
 (HPO:0002383) Encephalitis Occasional [Orphanet] 41 / 7739
8
 (HPO:0001298) Encephalopathy 72 / 7739
9
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
10
 (HPO:0002354) Memory impairment Occasional [Orphanet] 63 / 7739
11
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
12
 (HPO:0000952) Jaundice 105 / 7739
13
 (HPO:0001410) Decreased liver function Very frequent [Orphanet] 59 / 7739
14
 (HPO:0008282) Unconjugated hyperbilirubinemia 9 / 7739
15
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
16
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
17
 (HPO:0011420) Death Very frequent [Orphanet] 184 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: