Hyperbilirubinemia, rotor type

Preferred Label : Hyperbilirubinemia, rotor type;

Symbol : HBLRR;

CISMeF acronym : HBLRR;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Rotor syndrome;

Description : The Rotor type of hyperbilirubinemia is an autosomal recessive form of primary conjugated hyperbilirubinemia. It is similar to Dubin-Johnson syndrome (DJS; 237500) in that affected individuals develop mild jaundice not associated with hemolysis shortly after birth or in childhood. However, Rotor syndrome can be distinguished from DJS by a lack of hepatocyte pigment deposits, delayed plasma clearance of the unconjugated anionic dye bromsulfthalein, poor hepatic visualization on certain radiographic imaging studies, and prominent urinary excretion of coproporphyrin I (summary by van de Steeg et al., 2012).;

Inheritance : Digenic recessive;

Molecular basis : Caused by simultaneous homozygous mutation in both the solute carrier organic anion transporter family, member 1B1 gene (SLCO1B1, 604843.0001) and the solute carrier organic anion transporter family, member 1B3 gene (SLCO1B3, 605495.0001);

Laboratory abnormalities : Delayed plasma clearance of unconjugated bromsulphthalein, an anionic diagnostic dye; Increased urinary excretion of coproporphyrin I;

Prefixed ID : #237450;

Details

Origin ID

237450;

UMLS CUI

C0220991;

Automatic exact mappings (from CISMeF team)
- Other disorders of bilirubin metabolism [ICD-10 Sub-category]
- SLCO1B1 wt Allele [NCIt concept]
- SLCO1B3 wt Allele [NCIt concept]
- hyperbilirubinemia, hereditary [MeSH Descriptor]
Currated CISMeF NLP mapping
- Rotor syndrome [ICD-11 More detail]
- Rotor syndrome [ORDO Disease]
- Rotor syndrome (disorder) [SNOMED CT concept]
- Rotor's syndrome [MedDRA Preferred Term]
- rotor syndrome [MeSH concept]
- rotor syndrome [SNOMED Notion]
Genes related to phenotype
- Solute carrier organic anion transporter family, member 1b1 [OMIM gene]
- Solute carrier organic anion transporter family, member 1b3 [OMIM gene]
HPO term(s)
- Abnormality of skin pigmentation [HPO term]
- Abnormality of the skeletal system [HPO term]
- Conjugated hyperbilirubinemia [HPO term]
- Digenic inheritance [HPO term]
- Jaundice [HPO term]
ORDO concept(s)
- Rotor syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rotor syndrome [ORDO Disease]
- Rotor syndrome [ICD-11 More detail]
- Rotor syndrome (disorder) [SNOMED CT concept]
- Rotor's syndrome [MedDRA Preferred Term]
- rotor syndrome [SNOMED Notion]
- rotor syndrome [MeSH concept]

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