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Summary
HYPERBILIRUBINEMIA, ROTOR TYPE (HBLRR)
237450
OMIM = Online Medalian Inheritance of Men
3111
12p12.1, 12p12.2
rare
digenic recessive
mutations in the SLCO1B1 (604843) and SLCO1B3 (605495) genes
Rotor syndrome is a benign disease with no effect on life expectancy [Kumar A 2020]
symptoms
jaundice
onset, childhood
onset, infancy
laboratory finding
Coproporphyrin I mmol/mol creatinineurine
Bilirubin, conjugated +€mol/lserum
Literature
Yang H,et al.Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH allelesMol Genet Metab Rep14055-582017
Yang H,et al.Mildly elevated succinylacetone and normal liver function in compound heterozygotes with pathogenic and pseudodeficient FAH allelesMol Genet Metab Rep14055-582017