Details of Disease | DrugMAP

General Information of Disease (ID: DISNBRRT)

Disease Name	Rotor syndrome
Synonyms	HBLRR; Rotor-type hyperbilirubinemia; hyperbilirubinemia, ROTOR type; hyperbilirubinemia, Rotor type; Rotor syndrome; hyperbilirubinemia, rotor type, digenic
Definition	Rotor syndrome (RT) is a benign, inherited liver disorder characterized by chronic, predominantly conjugated, nonhemolytic hyperbilirubinemia with normal liver histology.
Disease Hierarchy	DIS788JD: Hereditary hyperbilirubinemia DISNBRRT: Rotor syndrome
Disease Identifiers	MONDO ID MONDO_0009379 MESH ID D006933 UMLS CUI C0220991 OMIM ID 237450 MedGen ID 67435 Orphanet ID 3111 SNOMED CT ID 32891000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLCO1B1	TTFGXEB	Limited	Biomarker	[1]
SLCO1B3	TTU86P0	Limited	Biomarker	[1]
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This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLCO1B1	DT3D8F0	Supportive	Autosomal recessive	[2]
SLCO1B3	DT9C1TS	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SLCO1B1	OTNEN8QK	Supportive	Autosomal recessive	[2]
SLCO1B3	OTOM3BUH	Supportive	Autosomal recessive	[2]
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References

1	Gene replacement therapy for genetic hepatocellular jaundice.Clin Rev Allergy Immunol. 2015 Jun;48(2-3):243-53. doi: 10.1007/s12016-014-8454-7.
2	Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver. J Clin Invest. 2012 Feb;122(2):519-28. doi: 10.1172/JCI59526. Epub 2012 Jan 9.