KEGG   DISEASE: Rotor syndrome
Entry
H02057                      Disease                                
Name
Rotor syndrome
  Supergrp
Hyperbilirubinemia [DS:H00208]
Description
Rotor syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, coproporphyrinuria, and near-absent hepatic uptake of anionic diagnostics. It is linked to mutations predicted to cause complete deficiencies of the organic anion transporting polypeptides OATP1B1 and OATP1B3.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C58  Inborn errors of porphyrin or heme metabolism
     H02057  Rotor syndrome
Pathway
hsa04976  Bile secretion
Gene
SLCO1B1 [HSA:10599] [KO:K05043]
SLCO1B3 [HSA:28234] [KO:K05043]
Other DBs
ICD-11: 5C58.0Y
ICD-10: E80.6
MeSH: D006933
OMIM: 237450
Reference
PMID:20955959
  Authors
Strassburg CP
  Title
Hyperbilirubinemia syndromes (Gilbert-Meulengracht, Crigler-Najjar, Dubin-Johnson, and Rotor syndrome).
  Journal
Best Pract Res Clin Gastroenterol 24:555-71 (2010)
DOI:10.1016/j.bpg.2010.07.007
Reference
PMID:22232210
  Authors
van de Steeg E, Stranecky V, Hartmannova H, Noskova L, Hrebicek M, Wagenaar E, van Esch A, de Waart DR, Oude Elferink RP, Kenworthy KE, Sticova E, al-Edreesi M, Knisely AS, Kmoch S, Jirsa M, Schinkel AH
  Title
Complete OATP1B1 and OATP1B3 deficiency causes human Rotor syndrome by interrupting conjugated bilirubin reuptake into the liver.
  Journal
J Clin Invest 122:519-28 (2012)
DOI:10.1172/JCI59526

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Disease (1)   
   OMIM (1)   
Gene (3)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (2)   
Literature (2)   
   PubMed (2)   
All databases (6)   

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