Crigler-Najjar syndrome

Crigler-Najjar syndrome (CNS) is a hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a hepatic deficit of bilirubin glucuronosyltransferase (GT) activity. Two types have been described, CNS types 1 and 2 (see these terms). CNS1 is characterized by a complete deficit of the enzyme and is unaffected by phenobarbital induction therapy, whereas the enzymatic deficit is partial and responds to phenobarbital in CNS2.



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Narrow down the case reports



Total: 51 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(36.9%)		 3912072
 [Liver transplantation in children].
Otte JB, de Hemptine B, Moulin D, Veyckemans F, Carlier MA, Buts JP, Claus D, Reynaert M, de Ville de Goyet J, Rahier J, et al..
Chir Pediatr. 1985;26(5):261-73.
Cirrhosis Cholestasis Polysplenia Hypercholesterolemia
ADRA1D SERPINA1
Biliary Tract Diseases Child Females Homo sapiens Infant Liver Cirrhosis Male Tissue Donors Tissue Preservation alpha 1-Antitrypsin Deficiency
2
(34.3%)		 21440778
 De novo fatty liver due to vascular complications after liver transplantation.
Zahmatkeshan M, Geramizadeh B, Eshraghian A, Nikeghbalian S, Bahador A, Salahi H, Malek-Hosseini SA.
Transplant Proc. 2011;43(2):615-7.
Obesity Biliary atresia Portal vein thrombosis
Biliary Atresia Biopsy Child Fatty Liver Females Homo sapiens Infant Liver Liver Failure Male Non-alcoholic Fatty Liver Disease Thrombosis Vascular Diseases
3
(32.0%)		 26697581
 Two Different UGT1A1 Mutations causing Crigler-Najjar Syndrome types I and II in an Iranian Family.
Maruo Y, Behnam M, Ikushiro S, Nakahara S, Nouri N, Salehi M.
J Gastrointestin Liver Dis. 2015;24(4):523-6.
Jaundice Hyperbilirubinemia
CNDP2 NT5C1A UGT1A1
c|INS|381|GG p|SUB|V|225|G;RS#:35003977 rs35003977
Animals Bilirubin Biological Markers COS Cells Cercopithecus aethiops Child, Preschool DNA Mutational Analysis Fatal Outcome Females Genetic Predisposition to Disease Glucuronosyltransferase Heredity Homo sapiens Infant, Newborn Iran Male Mutation Phenotype Transfection
3
(32.0%)		 19953640
 Persistent jaundice in an infant with homozygous beta thalassemia due to co-inherited Crigler-Najjar syndrome.
Aggarwal V, Seth A, Sharma S, Aneja S, Sammarco P, Fabiano C.
Pediatr Blood Cancer. 2010;54(4):627-8.
Jaundice Hyperbilirubinemia
AGT UGT1A1
c|SUB|GGT||AGT
Fatal Outcome GABA Modulators Glucuronosyltransferase Homo sapiens Icterus Infant Male Mutation Red Blood Cell Transfusion beta Thalassemia
3
(32.0%)		 8012512
 Type II crigler-Najjar syndrome with intrahepatic cholestasis.
Kagita A, Adachi Y, Kambe A, Kamisako T, Yamamoto T.
J Gastroenterol. 1994;29(2):214-7.
Jaundice Unconjugated hyperbilirubinemia
Homo sapiens Hyperbilirubinemia Intrahepatic Cholestasis Male Middle Aged
6
(29.2%)		 30260719
 Liver Cirrhosis in a Patient with Crigler Najjar Syndrome.
Bars Z, Ozcay F, Usta Y, Ozgun G.
Fetal Pediatr Pathol. 2018;37(4):301-306.
Cirrhosis Biliary cirrhosis Unconjugated hyperbilirubinemia
CNDP2 UGT1A1
c|SUB|C|115|G;RS#:72551339 p|SUB|H|39|D;RS#:72551339 p|SUB|H||D
Females Homo sapiens Liver Cirrhosis
6
(29.2%)		 26968162
(4788912)
 Acute cholangitis in an old patient with Crigler-Najjar syndrome type II - a case report.
Fernandes SR, Moura CM, Rodrigues B, Correia LA, Cortez-Pinto H, Velosa J.
BMC Gastroenterol. 2016;16:33.
Cholecystitis Unconjugated hyperbilirubinemia
NT5C2
Acute Disease Aged, 80 and over Cholangitis Cholecystectomy, Laparoscopic Cholecystitis Cholelithiasis Cholestasis Endoscopic Retrograde Cholangiopancreatography Females Homo sapiens Ultrasonography
8
(27.2%)		 1962749
 [Case report of a patient with pseudohypoparathyroidism associated with slight increase in serum level of unconjugated bilirubin].
Kamitani A, Morimoto S, Takamoto S, Nabata T, Miyashita Y, Kitano S, Ogihara T.
Nihon Naibunpi Gakkai Zasshi. 1990;66(11):1148-57.
Hypoparathyroidism Hemolytic anemia
HP
Adult Homo sapiens Hyperbilirubinemia Male Pseudohypoparathyroidism
9
(26.5%)		 3115090
 Acute hepatitis in Crigler-Najjar syndrome.
Sherker AH, Heathcote J.
Am J Gastroenterol. 1987;82(9):883-5.
Unconjugated hyperbilirubinemia Acute hepatitis
Acute Disease Adult Glucuronosyltransferase Hepatitis Homo sapiens Hyperbilirubinemia, Hereditary Male
10
(25.8%)		 26674039
 [A 14-day-old boy with jaundice and apnoea].
Smerud OJ, Solevag AL, Hansen TW, Gronn M.
Tidsskr Nor Laegeforen. 2015;135(23-24):2167-70.
Jaundice
Apnea Bilirubin Homo sapiens Infant, Newborn Kernicterus Male Neonatal Jaundice Phototherapy Practice Guidelines as Topic
        

Phenotype(s) retrieved from Orphanet

    Total: 11

HPO ID Term Frequency
HP:0000952 Jaundice Very frequent (99-80%)
HP:0001392 Abnormality of the liver Very frequent (99-80%)
HP:0001252 Muscular hypotonia Frequent (79-30%)
HP:0000365 Hearing impairment Occasional (29-5%)
HP:0000597 Ophthalmoparesis Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001254 Lethargy Occasional (29-5%)
HP:0002321 Vertigo Occasional (29-5%)
HP:0002354 Memory impairment Occasional (29-5%)
HP:0002383 Encephalitis Occasional (29-5%)
HP:0100543 Cognitive impairment Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 12

HPO ID Term # of case reports
HP:0008282 Unconjugated hyperbilirubinemia 15
HP:0000952 Jaundice 4
HP:0002904 Hyperbilirubinemia 3
HP:0001394 Cirrhosis 2
HP:0005912 Biliary atresia 2
HP:0001396 Cholestasis 1
HP:0001406 Intrahepatic cholestasis 1
HP:0001748 Polysplenia 1
HP:0001878 Hemolytic anemia 1
HP:0001903 Anemia 1
HP:0003124 Hypercholesterolemia 1
HP:0200119 Acute hepatitis 1


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID