Dubin-johnson syndrome

Preferred Label : Dubin-johnson syndrome;

Symbol : DJS;

CISMeF acronym : DJS; HBLRDJ;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperbilirubinemia, dubin-johnson type; HBLRDJ; Hyperbilirubinemia II;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the canalicular multispecific organic anion transporter gene (ABCC2, 601107.0001);

Laboratory abnormalities : Conjugated hyperbilirubinemia; Routine liver function tests normal; Normal serum bile acids; Characteristic urinary coproporphyrin pattern (mostly isomer I (80%) instead of isomer III); Normal total urinary coproporphyrin; Bromosulfophthalein test - secondary rise at 90 minutes;

Prefixed ID : #237500;

Détails

Origin ID

237500;

UMLS CUI

C0022350;

Automatic exact mappings (from CISMeF team)
- ABCC2 wt Allele [NCIt concept]
- ATP binding cassette subfamily C member 2 [ORDO Gene]
- ATP binding cassette subfamily C member 2 [HGNC gene]
- Dubin-Johnson syndrome [DO Concept]
- Hyperbilirubinemia [PASCAL descriptor]
- Hyperbilirubinemia [NCIt concept]
- Other disorders of bilirubin metabolism [ICD-10 Sub-category]
- Other disorders of bilirubin metabolism [ICD-10 Sub-category (who)]
- hyperbilirubinemia [MeSH Descriptor]
- hyperbilirubinemia [MeSH concept]
Currated CISMeF NLP mapping
- Dubin-Johnson Syndrome [NCIt concept]
- Dubin-Johnson disease [PASCAL descriptor]
- Dubin-Johnson syndrome [ICD-11 Sub-sub category]
- Dubin-Johnson syndrome [MedDRA Preferred Term]
- Dubin-Johnson syndrome [TUV Concept]
- Dubin-Johnson syndrome [ORDO Disease]
- Dubin-Johnson syndrome (disorder) [SNOMED CT concept]
- chronic idiopathic jaundice [Disease (Nov.)]
- dubin-johnson syndrome [SNOMED Notion]
- jaundice, chronic idiopathic [MeSH Descriptor]
- jaundice, chronic idiopathic [MeSH concept]
DO Cross reference
- Dubin-Johnson syndrome [DO Concept]
False automatic mappings
- Djibouti [NCIt concept]
Genes related to phenotype
- Atp-binding cassette, subfamily C, member 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Biliary tract abnormality [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Jaundice [HPO term]
ORDO concept(s)
- Dubin-Johnson syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Dubin-Johnson Syndrome [NCIt concept]
- Dubin-Johnson syndrome [MedDRA Preferred Term]
- Dubin-Johnson syndrome [ORDO Disease]
- Dubin-Johnson syndrome [TUV Concept]
- Dubin-Johnson syndrome [DO Concept]
- Dubin-Johnson syndrome (disorder) [SNOMED CT concept]
- chronic idiopathic jaundice [Disease (Nov.)]
- dubin-johnson syndrome [SNOMED Notion]
- jaundice, chronic idiopathic [MeSH Descriptor]
- jaundice, chronic idiopathic [MeSH concept]

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