MCID: HYP481
MIFTS: 21

Hyperbiliverdinemia

Categories: Genetic diseases, Liver diseases, Rare diseases

Aliases & Classifications for Hyperbiliverdinemia

MalaCards integrated aliases for Hyperbiliverdinemia:

Name: Hyperbiliverdinemia 57 59 75 37 29 13 6 40 73
Green Jaundice 57 59 75
Hblvd 57 75

Characteristics:

Orphanet epidemiological data:

59
hyperbiliverdinemia
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Adult;

OMIM:

57
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
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
both heterozygous and homozygous mutations have been reported


HPO:

32

Classifications:

Orphanet: 59  
Rare hepatic diseases


External Ids:

OMIM 57 614156
Orphanet 59 ORPHA276405
ICD10 via Orphanet 34 K76.8
MedGen 42 C3279964
MeSH 44 D002779
KEGG 37 H01936
UMLS 73 C3279964

Summaries for Hyperbiliverdinemia

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)

MalaCards based summary : Hyperbiliverdinemia, also known as green jaundice, is related to 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 cholelithiasis and cholestasis

UniProtKB/Swiss-Prot : 75 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 liver cirrhosis 9.7

Symptoms & Phenotypes for Hyperbiliverdinemia

Symptoms via clinical synopsis from OMIM:

57
Abdomen Liver:
liver dysfunction

Skin Nails Hair Skin:
jaundice, green

Abdomen Biliary Tract:
cholestasis
cholelithiasis

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


Clinical features from OMIM:

614156

Human phenotypes related to Hyperbiliverdinemia:

32
# Description HPO Frequency HPO Source Accession
1 cholelithiasis 32 HP:0001081
2 cholestasis 32 HP:0001396
3 decreased liver function 32 HP:0001410

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:

41
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 novel mutation in the biliverdin reductase-A gene combined with liver cirrhosis results in hyperbiliverdinaemia (green jaundice). ( 19580635 )
2009
3
Hyperbiliverdinemia in the bronze baby syndrome. ( 3819048 )
1987

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.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs387906595 GRCh38 Chromosome 7, 43787943: 43787943
2 BLVRA NM_001253823.1(BLVRA): c.131C> A (p.Ser44Ter) single nucleotide variant Pathogenic rs387906596 GRCh37 Chromosome 7, 43827621: 43827621
3 BLVRA NM_001253823.1(BLVRA): c.131C> A (p.Ser44Ter) single nucleotide variant Pathogenic rs387906596 GRCh38 Chromosome 7, 43788022: 43788022
4 BLVRA NM_001253823.1(BLVRA): c.52C> T (p.Arg18Ter) single nucleotide variant Pathogenic rs387906595 GRCh37 Chromosome 7, 43827542: 43827542

Expression for Hyperbiliverdinemia

Search GEO for disease gene expression data for Hyperbiliverdinemia.

Pathways for Hyperbiliverdinemia

Pathways related to Hyperbiliverdinemia according to KEGG:

37
# 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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