 | DISEASE: Dubin-Johnson syndrome | Help |
| Entry | |
|---|
| 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 BRITE hierarchy |
|---|
| Pathway | | hsa02010 | ABC transporters |
|
|---|
| Gene | ABCC2 [HSA:1244] [KO:K05666] |
|---|
| Other DBs | |
|---|
| 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 |
|---|
| » Japanese version | All links Disease (1) OMIM (1) All databases (1) Download RDF |
DBGET integrated database retrieval system