Details of Disease

General Information of Disease (ID: DIS0ZA9V)

Disease Name Hyperbiliverdinemia
Synonyms HBLVD; hyperbiliverdinemia; green jaundice
Definition
Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS2OMMF: Liver disease
DIS0ZA9V: Hyperbiliverdinemia
Disease Identifiers
MONDO ID
MONDO_0013595
UMLS CUI
C3279964
OMIM ID
614156
MedGen ID
481594
Orphanet ID
276405
SNOMED CT ID
771441005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BLVRA TTJBPN3 Supportive Autosomal dominant [1]
BLVRA TTJBPN3 Strong GermlineCausalMutation [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BLVRA OTTSEKLZ Supportive Autosomal dominant [1]
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References

1 A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis. J Med Genet. 2011 Apr;48(4):219-25. doi: 10.1136/jmg.2009.074567. Epub 2011 Jan 28.