DJS
MCID: DBN001
MIFTS: 58
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Dubin-Johnson Syndrome (DJS)
Categories:
Genetic diseases, Liver diseases, Metabolic diseases, Nephrological diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Dubin-Johnson Syndrome:
Characteristics:Orphanet epidemiological data:59
dubin-johnson syndrome
Inheritance: Autosomal recessive; Age of onset: Adolescent,Adult; Age of death: normal life expectancy; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
most patients are asymptomatic icterus can be increased by oral contraceptives, pregnancy, or intercurrent illness increased frequency in persian jews (1:1,300) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Liver diseases Skin diseases Nephrological diseases
ICD10:
33
34
External Ids:
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Genetics Home Reference
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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 cholestasis and intrahepatic cholestasis of pregnancy, 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 leucovorin have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and eye, 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 : 53 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 : 57 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 : 37 ![]() UniProtKB/Swiss-Prot : 74 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 : 75 Dubin-Johnson syndrome is a rare, autosomal recessive, benign disorder that causes an isolated increase... more... |
Human phenotypes related to Dubin-Johnson Syndrome:59 32 (show all 11)
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:237500UMLS symptoms related to Dubin-Johnson Syndrome:icterus, jaundice (not of newborn) GenomeRNAi Phenotypes related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:26
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Drugs for Dubin-Johnson Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 18)
Interventional clinical trials:
Cochrane evidence based reviews: jaundice, chronic idiopathic |
MalaCards organs/tissues related to Dubin-Johnson Syndrome:41
Liver,
Skin,
Eye,
Testes,
Colon
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Articles related to Dubin-Johnson Syndrome:(show top 50) (show all 427)
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ClinVar genetic disease variations for Dubin-Johnson Syndrome:6 (show top 50) (show all 78)
UniProtKB/Swiss-Prot genetic disease variations for Dubin-Johnson Syndrome:74
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Search
GEO
for disease gene expression data for Dubin-Johnson Syndrome.
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Pathways related to Dubin-Johnson Syndrome according to KEGG:37
Pathways related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:(show all 18)
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Cellular components related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:
Biological processes related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:
Molecular functions related to Dubin-Johnson Syndrome according to GeneCards Suite gene sharing:
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