Hyperbiliverdinemia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HBLVD green jaundice |
| Number of Symptoms | 10 |
| OrphanetNr: | 276405 |
| OMIM Id: |
614156
|
| ICD-10: |
K76.8 |
| UMLs: |
|
| MeSH: |
|
| MedDRA: |
|
| Snomed: |
|
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare genetic hepatic disease
-Rare genetic disease Rare hepatic disease -Rare hepatic disease |
Symptom Information:
|
|
(HPO:0001396) | Cholestasis | 136 / 7739 | ||||
|
|
(HPO:0001081) | Cholelithiasis | 36 / 7739 | ||||
|
|
(HPO:0001410) | Decreased liver function | 59 / 7739 | ||||
|
|
(OMIM) | Jaundice, green | 1 / 7739 | ||||
|
|
(OMIM) | Increased biliverdin in bodily fluids | 1 / 7739 | ||||
|
|
(OMIM) | Green serum | 1 / 7739 | ||||
|
|
(OMIM) | Green urine | 1 / 7739 | ||||
|
|
(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
|
|
(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
|
|
(OMIM) | Bilirubin may or may not be increased | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|
Additional Information:
| Description: (OMIM) |
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 ... |
| Clinical Description OMIM |
Gafvels et al. (2009) reported a 63-year-old Swedish man with alcoholic liver failure and hyperbiliverdinemia manifested as green jaundice. The patient first presented with fatigue, weight, loss, and nausea, and laboratory studies showed elevated liver enzymes with normal ... |
| Molecular genetics OMIM |
In a 63-year-old Swedish man with liver failure and hyperbiliverdinemia manifest as green jaundice, Gafvels et al. (2009) identified a heterozygous truncating mutation in the BLVRA gene (R18X; 109750.0001). His 2 children were also heterozygous for the mutation ... |