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, absence of hepatic UDP-glucuronyl-transferase, developmental delay, death |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal recessive |
| Mutations | |
| 1 Amish, Old Order Mennonite | |
| Gene: | UGT1A1 |
| Base Change: | C>A, at nucleotide 222 |
| Amino Acid Change: | tyr 74 --> term |
| Last updated: | 2022-11-03 |
| 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. (2020) Crigler-Najjar syndrome type 1: pathophysiology, natural history, and therapeutic frontier. Hepatology Jun;71(6):1923-1939. PubMed ID: 31553814 |
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