Dubin-Johnson Syndrome (DJS)

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Disease Ontology 12 DOID:12308 OMIM 56 237500 OMIM Phenotypic Series 56 PS237450 KEGG 36 H02056 MeSH 43 D007566 NCIt 49 C34741 SNOMED-CT 67 44553005 ICD10 32 E80.6

MESH via Orphanet 44 D007566 ICD10 via Orphanet 33 E80.6 UMLS via Orphanet 72 C0022350 Orphanet 58 ORPHA234 MedGen 41 C0022350 SNOMED-CT via HPO 68 102867009 105997008 167239007 18165001 21522001 248274002 258211005 362970003 386661006 50177009 64779008 80515008 84229001 9326001 more UMLS 71 C0022350 C0268307

Genetics Home Reference : ²⁵ Dubin-Johnson syndrome is a condition characterized by jaundice, which is a yellowing of the skin and whites of the eyes. In most affected people jaundice appears during adolescence or early adulthood. Jaundice is typically the only feature of Dubin-Johnson syndrome, but some people can experience weakness, mild abdominal pain, nausea, or vomiting. In most people with Dubin-Johnson syndrome, certain deposits build up in the liver but do not seem to impair liver function. The deposits make the liver appear black when viewed with medical imaging. Rarely, jaundice develops soon after birth in individuals with Dubin-Johnson syndrome. Affected infants typically also have enlarged livers (hepatomegaly) and a severely reduced ability to produce and release a digestive fluid called bile (cholestasis). As these children get older, their liver problems go away and they usually do not have any related health problems later in life.

MalaCards based summary : Dubin-Johnson Syndrome, also known as djs, is related to hyperbilirubinemia, rotor type and bilirubin metabolic disorder, and has symptoms including icterus and jaundice (not of newborn). An important gene associated with Dubin-Johnson Syndrome is ABCC2 (ATP Binding Cassette Subfamily C Member 2), and among its related pathways/superpathways are ABC transporters and Bile secretion. The drugs Methotrexate and Antioxidants have been mentioned in the context of this disorder. Affiliated tissues include liver, eye and skin, and related phenotypes are jaundice and biliary tract abnormality

Disease Ontology : ¹² A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile.

NIH Rare Diseases : ⁵² Dubin-Johnson syndrome (DJS) is an inherited disorder of bilirubin characterized by a buildup of bilirubin in the bloodstream (hyperbilirubinemia). When bilirubin builds up in the skin and the whites of the eyes, it can cause a yellowish color to the skin (jaundice ). Individuals with DJS may also have a liver that is sometimes enlarged and tender. The symptoms often do not present until puberty or adulthood. Factors that may worsen symptoms include: alcohol use, birth control pills, infection, and pregnancy. In most cases, treatment is not required.

OMIM : ⁵⁶ Dubin-Johnson syndrome is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by Wada et al., 1998). (237500)

KEGG : ³⁶ 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.

UniProtKB/Swiss-Prot : ⁷³ Dubin-Johnson syndrome: Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function.

Wikipedia : ⁷⁴ Dubin-Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase... more...

Clinical features from OMIM:

237500

Search NIH Clinical Center for Dubin-Johnson Syndrome

Search GEO for disease gene expression data for Dubin-Johnson Syndrome.