Amish, Mennonite, and Hutterite
Genetic Disorder Database

Crigler-Najjar syndrome

Disorder
OMIM #: #218800  (Click to access OMIM database)
Disorder: Crigler-Najjar syndrome 
Also known as: CRIGLER-NAJJAR SYNDROME, TYPE I 
Clinical
Phenotype: hyperbilirubinemia, jaundice, bilirubin encephalopathy (kernicterus), developmental delay/mental retardation, death 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish, Old Order Mennonite  
Gene: UGT1A1
Base Change: C>A, at nucleotide 222
Amino Acid Change: tyr 74 --> term
Last updated: 2019-11-21 

References
Kadakol A, Ghosh S, Sappal B, Sharma G, Chowdhury J, and Chowdhury N. (2000) Genetic Lesions of Bilirubin Uridine-diphospho-glucuronate Glucuronosyltransferase (UGT1A1) Causing Crigler-Najjar and Gilbert Syndromes: Correlation of Genotype to Phenotype. Hum Mutat 16: 297-306.
PubMed ID: 11013440 
Strauss KA, Ahlfors CE, Soltys K, Mazareigos GV, Young M, Bowser LE, Fox MD, Squires JE, McKiernan P, Brigatti KW, Puffenberger EG, Carson VJ, Vreman HJ. (2019) Crigler-Najjar syndrome type 1: pathophysiology, natural history, and therapeutic frontier. Hepatology Sep 25. doi: 10.1002/hep.30959.
PubMed ID: 31553814 

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