HBLVD
MCID: HYP481
MIFTS: 23

Hyperbiliverdinemia (HBLVD)

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

Aliases & Classifications for Hyperbiliverdinemia

MalaCards integrated aliases for Hyperbiliverdinemia:

Name: Hyperbiliverdinemia 58 60 76 38 30 13 6 41 74
Green Jaundice 58 60 76
Hblvd 58 76

Characteristics:

Orphanet epidemiological data:

60
hyperbiliverdinemia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

58
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:

33

Classifications:

Orphanet: 60  
Rare hepatic diseases


External Ids:

OMIM 58 614156
KEGG 38 H01936
MeSH 45 D002779
ICD10 via Orphanet 35 K76.8
Orphanet 60 ORPHA276405
MedGen 43 C3279964
UMLS 74 C3279964

Summaries for Hyperbiliverdinemia

OMIM : 58 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)

MalaCards based summary : Hyperbiliverdinemia, also known as green jaundice, is related to bilirubin metabolic disorder and liver cirrhosis. 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 skin, and related phenotypes are decreased liver function and cholelithiasis

UniProtKB/Swiss-Prot : 76 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 liver cirrhosis 9.8

Symptoms & Phenotypes for Hyperbiliverdinemia

Human phenotypes related to Hyperbiliverdinemia:

33
# Description HPO Frequency HPO Source Accession
1 decreased liver function 33 HP:0001410
2 cholelithiasis 33 HP:0001081
3 cholestasis 33 HP:0001396
4 green urine 33 HP:0032003

Symptoms via clinical synopsis from OMIM:

58
Abdomen Biliary Tract:
cholelithiasis
cholestasis

Skin Nails Hair Skin:
jaundice, green

Abdomen Liver:
liver dysfunction

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

Clinical features from OMIM:

614156

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 30 BLVRA

Anatomical Context for Hyperbiliverdinemia

MalaCards organs/tissues related to Hyperbiliverdinemia:

42
Liver, Skin

Publications for Hyperbiliverdinemia

Articles related to Hyperbiliverdinemia:

# Title Authors Year
1
Fiber enhanced Raman spectroscopic analysis as a novel method for diagnosis and monitoring of diseases related to hyperbilirubinemia and hyperbiliverdinemia. ( 27704083 )
2016
2
A homozygous nonsense mutation (c.214C->A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis. ( 21278388 )
2011
3
Green jaundice revisited. ( 20800138 )
2010
4
A novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice). ( 19580635 )
2009
5
Hyperbiliverdinemia in the bronze baby syndrome. ( 3819048 )
1987
6
Green jaundice. A study of serum biliverdin, mesobiliverdin and other green pigments. ( 5120531 )
1971

Variations for Hyperbiliverdinemia

ClinVar genetic disease variations for Hyperbiliverdinemia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 BLVRA NM_001253823.1(BLVRA): c.131C> A (p.Ser44Ter) single nucleotide variant Pathogenic rs387906596 GRCh38 Chromosome 7, 43788022: 43788022
2 BLVRA NM_001253823.1(BLVRA): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs387906595 GRCh37 Chromosome 7, 43827542: 43827542
3 BLVRA NM_001253823.1(BLVRA): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs387906595 GRCh38 Chromosome 7, 43787943: 43787943
4 BLVRA NM_001253823.1(BLVRA): c.131C> A (p.Ser44Ter) single nucleotide variant Pathogenic rs387906596 GRCh37 Chromosome 7, 43827621: 43827621

Expression for Hyperbiliverdinemia

Search GEO for disease gene expression data for Hyperbiliverdinemia.

Pathways for Hyperbiliverdinemia

Pathways related to Hyperbiliverdinemia according to KEGG:

38
# 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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