HBLVD
MCID: HYP481
MIFTS: 25

Hyperbiliverdinemia (HBLVD)

Categories: Genetic diseases, Liver diseases, Nephrological diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hyperbiliverdinemia

MalaCards integrated aliases for Hyperbiliverdinemia:

Name: Hyperbiliverdinemia 57 58 72 36 29 13 6 39 70
Green Jaundice 57 58 72
Hblvd 57 72

Characteristics:

Orphanet epidemiological data:

58
hyperbiliverdinemia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive
autosomal dominant

Miscellaneous:
both heterozygous and homozygous mutations have been reported
three patients have been reported (as of august 2011)
green jaundice occurs only in the context of liver failure or obstructive cholestasis
green color resolves if cholestasis is treated


HPO:

31

Classifications:

Orphanet: 58  
Rare hepatic diseases


External Ids:

OMIM® 57 614156
KEGG 36 H01936
MeSH 44 D002779
ICD10 via Orphanet 33 K76.8
Orphanet 58 ORPHA276405
MedGen 41 C3279964
UMLS 70 C3279964

Summaries for Hyperbiliverdinemia

KEGG : 36 Hyperbiliverdinaemia (HBLVD) is a clinical sign that has been infrequently reported in cases of liver cirrhosis or liver carcinoma, usually indicating a poor long-term prognosis. Under physiological circumstances, the concentrations of biliverdin are much lower than those of bilirubin. However, in rare cases, impairment of the biliverdin/bilirubin pathway has been reported to result in green jaundice and a green discoloration of body fluids. It has been reported that hyperbiliverdinaemia is caused by a genetic defect in the BLVRA gene in conjunction with decompensated liver cirrhosis.

MalaCards based summary : Hyperbiliverdinemia, also known as green jaundice, is related to bilirubin metabolic disorder and neonatal jaundice. An important gene associated with Hyperbiliverdinemia is BLVRA (Biliverdin Reductase A), and among its related pathways/superpathways is Porphyrin and chlorophyll metabolism. Affiliated tissues include liver, and related phenotypes are cholelithiasis and cholestasis

OMIM® : 57 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). (614156) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Hyperbiliverdinemia: A condition characterized by a green discoloration of the skin, urine, serum, and other bodily fluids. It is due to increased biliverdin resulting from inefficient conversion to bilirubin. 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.

Related Diseases for Hyperbiliverdinemia

Diseases related to Hyperbiliverdinemia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 bilirubin metabolic disorder 10.1
2 neonatal jaundice 9.9
3 varicose veins 9.8
4 pyelonephritis 9.8
5 liver cirrhosis 9.8
6 acute pyelonephritis 9.8

Graphical network of the top 20 diseases related to Hyperbiliverdinemia:



Diseases related to Hyperbiliverdinemia

Symptoms & Phenotypes for Hyperbiliverdinemia

Human phenotypes related to Hyperbiliverdinemia:

31
# Description HPO Frequency HPO Source Accession
1 cholelithiasis 31 HP:0001081
2 cholestasis 31 HP:0001396
3 decreased liver function 31 HP:0001410
4 green urine 31 HP:0032003

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Abdomen Biliary Tract:
cholelithiasis
cholestasis

Abdomen Liver:
liver dysfunction

Laboratory Abnormalities:
green urine
green serum
increased biliverdin in bodily fluids
bilirubin may or may not be increased

Skin Nails Hair Skin:
jaundice, green

Clinical features from OMIM®:

614156 (Updated 20-May-2021)

Drugs & Therapeutics for Hyperbiliverdinemia

Search Clinical Trials , NIH Clinical Center for Hyperbiliverdinemia

Genetic Tests for Hyperbiliverdinemia

Genetic tests related to Hyperbiliverdinemia:

# Genetic test Affiliating Genes
1 Hyperbiliverdinemia 29 BLVRA

Anatomical Context for Hyperbiliverdinemia

MalaCards organs/tissues related to Hyperbiliverdinemia:

40
Liver

Publications for Hyperbiliverdinemia

Articles related to Hyperbiliverdinemia:

# Title Authors PMID Year
1
A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis. 57 6
21278388 2011
2
A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice). 6 57
19580635 2009
3
It's not easy bein' green. 57
19699374 2009
4
Fiber enhanced Raman spectroscopic analysis as a novel method for diagnosis and monitoring of diseases related to hyperbilirubinemia and hyperbiliverdinemia. 61
27704083 2016
5
Hyperbiliverdinemia in the bronze baby syndrome. 61
3819048 1987

Variations for Hyperbiliverdinemia

ClinVar genetic disease variations for Hyperbiliverdinemia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BLVRA NM_000712.4(BLVRA):c.52C>T (p.Arg18Ter) SNV Pathogenic 29612 rs387906595 GRCh37: 7:43827542-43827542
GRCh38: 7:43787943-43787943
2 BLVRA NM_001253823.1(BLVRA):c.131C>A (p.Ser44Ter) SNV Pathogenic 29613 rs387906596 GRCh37: 7:43827621-43827621
GRCh38: 7:43788022-43788022
3 BLVRA NM_000712.4(BLVRA):c.157G>T (p.Gly53Ter) SNV Likely pathogenic 1029936 GRCh37: 7:43830870-43830870
GRCh38: 7:43791271-43791271

Expression for Hyperbiliverdinemia

Search GEO for disease gene expression data for Hyperbiliverdinemia.

Pathways for Hyperbiliverdinemia

Pathways related to Hyperbiliverdinemia according to KEGG:

36
# Name Kegg Source Accession
1 Porphyrin and chlorophyll metabolism hsa00860

GO Terms for Hyperbiliverdinemia

Sources for Hyperbiliverdinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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