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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 ]
PAX3: paired box gene 3 (Waardenburg syndrome 1) PAX8: paired box gene 8; PID1: Phosphotyrosine interaction domain containing 1; POLR1B: DNA-directed RNA polymerase I subunit RPA2; PRR21: Proline-rich protein 21; PRSS56: Putative serine protease 56; RBM44: Rna binding motif protein 44; RFX8: Rfx family member 8, lacking rfx dna binding domain
Constriction ring syndrome; Contiguous gene syndrome; Conus medullaris syndrome; Cooks syndrome; Cord colitis syndrome; ... Gilbert's syndrome; Gulf War syndrome; H
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.
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The current Bachelor is opening up about what causes his eyes to appear yellow after fans started worrying about his health on social media. Joey Graziadei, currently the star of the long-running ...
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 ...
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