Hyperbiliverdinemia

Preferred Label : Hyperbiliverdinemia;

Symbol : HBLVD;

CISMeF acronym : HBLVD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Green jaundice;

Description : Hyperbiliverdinemia can manifest as green jaundice, which is a green discoloration of the skin, urine, serum, and other bodily fluids, due to increased biliverdin resulting from inefficient conversion to bilirubin. Although rarely reported, affected individuals appear to have symptoms only in the context of obstructive cholestasis and/or liver failure. In some cases, green jaundice can resolve after resolution of obstructive cholestasis. Green jaundice has also been associated with malnutrition, medication, and congenital biliary atresia (summary by Huffman et al., 2009).;

Inheritance : Autosomal dominant; Autosomal recessive;

Molecular basis : Caused by mutation in the biliverdin reductase A gene (BLVRA, 109750.0001);

Laboratory abnormalities : Green urine; Green serum; Increased biliverdin in bodily fluids; Bilirubin may or may not be increased;

Prefixed ID : #614156;

Details

Origin ID

614156;

UMLS CUI

C3279964;

Currated CISMeF NLP mapping
- Hyperbiliverdinemia [ORDO Disease]
- Hyperbiliverdinemia (disorder) [SNOMED CT concept]
- hyperbiliverdinaemia [Disease (Nov.)]
Genes related to phenotype
- Biliverdin reductase a [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cholelithiasis [HPO term]
- Cholestasis [HPO term]
- Decreased liver function [HPO term]
- Green urine [HPO term]
ORDO concept(s)
- Hyperbiliverdinemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hyperbiliverdinemia [ORDO Disease]
- Hyperbiliverdinemia (disorder) [SNOMED CT concept]
- hyperbiliverdinaemia [Disease (Nov.)]

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