pahangi in cat reservoirs by using high resolution melting real-time PCR (HRM real-time PCR). No further modifications are allowed.To identify two closely related Brugia malayi and B. Whenever the material is published elsewhere on the Web and (iii) reproducers,ĭistributors, and/or translators comply with the GeneReviews® Copyright Notice and Usageĭisclaimer. Washington) are included with each copy (ii) a link to the original material is provided Noncommercial research purposes only, provided that (i) credit for source ( ) and copyright (© 1993-2024 University of Hereby granted to reproduce, distribute, and translate copies of content materials for GeneReviews® chapters are owned by the University of Washington. GeneReviews isĪ registered trademark of the University of Washington, Seattle. Hemolytic jaundice is characterized by predominantly unconjugated hyperbilirubinemia and signs of increased hemolysis.Ĭopyright © 1993-2024, University of Washington, Seattle. The same holds true for any abnormal findings in the gallbladder and the biliary tree obtained by imaging and/or endoscopy techniques. See Hyperbilirubinemia: OMIM Phenotypic Series to view genes associated with this phenotype in OMIM.Ĭholestatic liver diseases and/or bile duct obstruction should be suspected whenever hyperbilirubinemia is accompanied by clinical signs other than jaundice and by elevation of serum activity of ALT, AST, ALP, or γ-GT. However, unconjugated hyperbilirubinemia associated with homozygous A(TA) 7TAA genotype but no pathogenic variants in the coding regions of UGT1A1 should always be diagnosed as Gilbert syndrome. Since plasma bilirubin level is not stable, the two phenotypes may overlap in the same individuals. Gilbert syndrome and Crigler-Najjar syndrome type II represent two phenotypes caused by pathogenic variants with quantitatively different consequences on the UGT1A1 enzyme activity. Gilbert syndrome is the most frequently occurring form of hereditary jaundice, affecting about 5%-10% of all Europeans.Ĭrigler-Najjar syndrome type II (or Arias syndrome) (OMIM 606785) is an autosomal recessive benign disorder similar to Gilbert syndrome, caused by pathogenic variants in the coding region of UGT1A1 and characterized by predominantly unconjugated hyperbilirubinemia ranging from 6 to 20 mg/dL. Hyperbilirubinemia <6 mg/dL is predominantly unconjugated, with conjugated bilirubin less than 20% of total serum bilirubin. The variants include the promoter TATA repeat variation A(TA) 7TAA (normal A(TA) 6TAA), which is often combined with the promoter SNP c.-3279T>G), or missense variants in the coding region of UGT1A1, which are frequent in the Japanese population but rare in Europeans. Gilbert syndrome (OMIM 143500) is an autosomal recessive disorder of bilirubin metabolism caused by pathogenic variants in UGT1A1 that decrease the rate of bilirubin conjugation catalyzed by UGT1A1. Immunohistologic detection of MRP2 can be performed in archival paraffin-embedded liver specimens. The older name of MRP2 (OMIM 601107) is cMOAT – canalicular multispecific organic anion transporter. For this disorder a multigene panel that also includes deletion/duplication analysis is recommended (see Table 2). (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. A multigene panel that includes SLCO1B1, SLCO1B3, and other genes of interest (see Differential Diagnosis) can be considered to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype.
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