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hyperbiliverdinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hyperbiliverdinemia

MONDO:0013595

Also known as:green jaundiceHBLVD

Overview

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.

GeneticsAutosomal recessive, Autosomal dominant · BLVRA (chr 7)

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated circulating biliverdin concentration and Green urine. 5 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	3	Cholestasis, Decreased liver function, Cholelithiasis

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

BLVRA encodes biliverdin reductase A (296 aa). Reduces the gamma-methene bridge of the open tetrapyrrole, biliverdin IXalpha, to bilirubin with the concomitant oxidation of a NADH or NADPH cofactor. Does not reduce bilirubin IXbeta. Highest expression in Spleen (106.8 TPM) and Colon Sigmoid (91.7 TPM).

Hyperbiliverdinemia has been associated with mutations in the BLVRA gene on chromosome 7.

The BLVRA protein participates in BLVRA:Zn2+, BLVRB reduce BV to BIL pathway.

BLVRA is classified as a druggable target (Enzyme category) with score 2.2.

Diagnosis

Genetic testing for BLVRA is available. Testing is considered supportive for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for hyperbiliverdinemia.

1 publication has been identified in PubMed for hyperbiliverdinemia. Research spans Review / Meta-Analysis (100%).

Recent Publications

Mancuso C (2025). [PMID: 40002374](https://pubmed.ncbi.nlm.nih.gov/40002374/). *Antioxidants (Basel, Switzerland)*. [Review / Meta-Analysis]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:47 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:614156

Orphanet

European rare disease database

Orphanet:276405

GARD

Genetic and Rare Diseases Info Center

GARD:17279

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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hyperbiliverdinemia

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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