KEGG   DISEASE: Dubin-Johnson syndrome
Entry
H02056                      Disease                                
Name
Dubin-Johnson syndrome
  Supergrp
Hyperbilirubinemia [DS:H00208]
Description
Dubin-Johnson syndrome (DJS) is a rare autosomal recessive disorder characterized by chronic conjugated hyperbilirubinemia and impaired hepatobiliary transport of non-bile salt organic anions. It is caused by mutations in ABCC2, a canalicular bilirubin glucuronide and xenobiotic export pump.
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
     H02056  Dubin-Johnson syndrome
Pathway
hsa02010  ABC transporters
hsa04976  Bile secretion
Gene
ABCC2 [HSA:1244] [KO:K05666]
Other DBs
ICD-11: 5C58.02
MeSH: D007566
OMIM: 237500
Reference
PMID:9878557
  Authors
Kajihara S, Hisatomi A, Mizuta T, Hara T, Ozaki I, Wada I, Yamamoto K
  Title
A splice mutation in the human canalicular multispecific organic anion transporter gene causes Dubin-Johnson syndrome.
  Journal
Biochem Biophys Res Commun 253:454-7 (1998)
DOI:10.1006/bbrc.1998.9780
Reference
PMID:26350512
  Authors
Slachtova L, Seda O, Behunova J, Mistrik M, Martasek P
  Title
Genetic and biochemical study of dual hereditary jaundice: Dubin-Johnson and Gilbert's syndromes. Haplotyping and founder effect of deletion in ABCC2.
  Journal
Eur J Hum Genet 24:704-9 (2016)
DOI:10.1038/ejhg.2015.181
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