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Hyperbiliverdinemia(HBLVD)

MedGen UID:
481594
•Concept ID:
C3279964
•
Disease or Syndrome
Synonyms: GREEN JAUNDICE; HBLVD
SNOMED CT: Hyperbiliverdinemia (771441005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Gene (location): BLVRA (7p13)
 
Monarch Initiative: MONDO:0013595
OMIM®: 614156
Orphanet: ORPHA276405

Definition

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). [from OMIM]

Clinical features

From HPO
Green urine
MedGen UID:
472974
•Concept ID:
C0239778
•
Finding
An abnormal green color of urine.
See: Feature record | Search on this feature
Cholelithiasis
MedGen UID:
3039
•Concept ID:
C0008350
•
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
See: Feature record | Search on this feature
Cholestasis
MedGen UID:
925
•Concept ID:
C0008370
•
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
See: Feature record | Search on this feature
Decreased liver function
MedGen UID:
65430
•Concept ID:
C0232744
•
Finding
Reduced ability of the liver to perform its functions.
See: Feature record | Search on this feature
Elevated circulating biliverdin concentration
MedGen UID:
1815106
•Concept ID:
C5706200
•
Finding
Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.
See: Feature record | Search on this feature
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Recent clinical studies

Diagnosis

Fiber enhanced Raman spectroscopic analysis as a novel method for diagnosis and monitoring of diseases related to hyperbilirubinemia and hyperbiliverdinemia.
Yan D, Domes C, Domes R, Frosch T, Popp J, Pletz MW, Frosch T
Analyst 2016 Oct 17;141(21):6104-6115. doi: 10.1039/c6an01670g. PMID: 27704083

Therapy

Hyperbiliverdinemia in the bronze baby syndrome.
Purcell SM, Wians FH Jr, Ackerman NB Jr, Davis BM
J Am Acad Dermatol 1987 Jan;16(1 Pt 2):172-7. doi: 10.1016/s0190-9622(87)80056-7. PMID: 3819048

Prognosis

Fiber enhanced Raman spectroscopic analysis as a novel method for diagnosis and monitoring of diseases related to hyperbilirubinemia and hyperbiliverdinemia.
Yan D, Domes C, Domes R, Frosch T, Popp J, Pletz MW, Frosch T
Analyst 2016 Oct 17;141(21):6104-6115. doi: 10.1039/c6an01670g. PMID: 27704083

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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