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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.
 
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.
Cholelithiasis
MedGen UID:
3039
Concept ID:
C0008350
Disease or Syndrome
Hard, pebble-like deposits that form within the gallbladder.
Cholestasis
MedGen UID:
925
Concept ID:
C0008370
Disease or Syndrome
Impairment of bile flow due to obstruction in bile ducts.
Decreased liver function
MedGen UID:
65430
Concept ID:
C0232744
Finding
Reduced ability of the liver to perform its functions.
Elevated circulating biliverdin concentration
MedGen UID:
1815106
Concept ID:
C5706200
Finding
Increased concentration of biliverdin, a green tetrapyrrolic bile pigment, in the blood circulation.

Recent clinical studies

Diagnosis

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

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

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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