Disease #01850 (HBLRR (hyperbilirubinemia, Rotor type (HBLRR)), OMIM:237450)

Official abbreviation HBLRR
Name hyperbilirubinemia, Rotor type (HBLRR)
OMIM ID 237450
Human Phenotype Ontology Project (HPO) HPO
Inheritance Digenic recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 2 genes SLCO1B1, SLCO1B3
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00269776 - - - M - China Asian 26y - - - HBLRR The patient were recruited from the China Registry for Genetics/Metabolic Liver Disease. The patient underwent a standard biochemical and liver histopathology examination (Jirsa et al., 1993), and displayed conjugated hyperbilirubinemia (total bilirubin (TBil) 101 μmol/L, direct bilirubin (DBil) 96 μmol/L). The livers were histologically normal. SLCO1B3 SLCO1C1 1 1 Donghu Zhou
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