Crigler-Najjar syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE I
HBLRCN1
CRIGLER-NAJJAR SYNDROME
Bilirubin-UGT deficiency type 1
Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1
UGT deficiency type 1
Hereditary unconjugated hyperbilirubinemia type 1
Number of Symptoms 15
OrphanetNr: 79234
OMIM Id: 218800
ICD-10: E80.5
UMLs: C2931131
MeSH: C536212
MedDRA: 10057034
Snomed: 8933000

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Crigler-Najjar syndrome
 -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:0002354) Memory impairment Occasional [Orphanet] 63 / 7739
4
 (HPO:0001343) Kernicterus 4 / 7739
5
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
6
 (HPO:0011442) Abnormality of central motor function Occasional [Orphanet] 76 / 7739
7
 (HPO:0001396) Cholestasis Very frequent [Orphanet] 136 / 7739
8
 (HPO:0001410) Decreased liver function Very frequent [Orphanet] 59 / 7739
9
 (OMIM) Absence of hepatic UDP-glucuronyl-transferase 1 / 7739
10
 (OMIM) Normal liver histology 1 / 7739
11
 (OMIM) Hyperbilirubinemia, unconjugated, 20-30mg/dl 1 / 7739
12
 (OMIM) Bilirubin encephalopathy 1 / 7739
13
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
14
 (MedDRA:10060106) Liver function test normal 2 / 7739
15
 (OMIM) Jaundice, congenital nonhemolytic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Crigler-Najjar syndrome was first described under the title 'congenital familial nonhemolytic jaundice with kernicterus' (Crigler and Najjar, 1952). The first patients originated from an inbred Old American kindred living in southern Maryland since the 1600s. Other rare recessives ...
Molecular genetics OMIM Gollan et al. (1975) reported 3 brothers with type II Crigler-Najjar syndrome who were severely jaundiced for over 50 years. Parenteral feeding with glucose caused hyperbilirubinemia, even when the patient was receiving phenobarbital. One of these brothers was ...