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Gilbert syndrome is due to a genetic variant in the UGT1A1 gene which results in decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase enzyme. [ 1 ] [ 3 ] It is typically inherited in an autosomal recessive pattern and occasionally in an autosomal dominant pattern depending on the type of variant. [ 3 ]
A deficiency in the bilirubin specific form of glucuronosyltransferase is thought to be the cause of Gilbert's syndrome, which is characterized by unconjugated hyperbilirubinemia. It is also associated with Crigler–Najjar syndrome , a more serious disorder where the enzyme's activity is either completely absent (Crigler–Najjar syndrome type ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
Crigler-Najjar syndrome is much more severe and presents in newborns. Crigler-Najjar syndrome is the complete or near complete inactivity absence of UGT1A1 activity a more severe unconjugated hyperbilirubinemia compared to Gilbert Syndrome. [2] Dubin-Johnson syndrome and Rotor syndrome cause elevations in conjugated bilirubin. These conditions ...
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Hepatorenal syndrome; Hereditary breast–ovarian cancer syndrome; Hereditary hyperbilirubinemia; Hereditary leiomyomatosis and renal cell cancer syndrome; Hereditary neuralgic amyotrophy; Hereditary nonpolyposis colorectal cancer; Hermansky–Pudlak syndrome; Hero syndrome; Heyde's syndrome; High-rise syndrome; HIV/AIDS; Holiday heart syndrome ...
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Oncogenomics is a sub-field of genomics that characterizes cancer-associated genes.It focuses on genomic, epigenomic and transcript alterations in cancer. Cancer is a genetic disease caused by accumulation of DNA mutations and epigenetic alterations leading to unrestrained cell proliferation and neoplasm formation.