Hyperbiliverdinemia
Synonyms: Green jaundice
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
Hyperbiliverdinemia is a rare, genetic hepatic disease characterized by the presence of green coloration of the skin, urine, plasma and other body fluids (ascites, breastmilk) or parts (sclerae) due to increased serum levels of biliverdin in association with biliary obstruction and/or liver failure. Association with malnutrition, medication, and congenital biliary atresia has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hyperbiliverdinemia | Green jaundice |
| fr | Hyperbiliverdinémie | Jaunisse verte |
| de | Hyperbiliverdinämie | Verdinikterus |
| es | Hiperbiliverdinemia | Ictericia verde |
| it | Iperbiliverdinemia | Ittero verde |
| nl | Hyperbiliverdinemie | Groene geelzucht |
| pt | Hiperbiliverdémia | |
| pl | Hiperbiliwerdynemia | Zielona żółtaczka |
| cs | Hyperbiliverdinémie | Zelená žloutenka |
| uk | Гіпербілівердинемія | Зелена жовтяниця |
| zh | 高胆绿素血症 | 绿色黄疸 |
| tr | Hiperbiliverdinemi | Yeşil sarılık |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614156 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C90.1 | NTBT | attributed | validated |
| MONDO | 0013595 | E | validated | |
| UMLS | C3279964 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:156601Rare genetic hepatic disease
rare genetic diseases - ORPHA:57146Rare hepatic disease
rare hepatic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BLVRA | Disease-causing germline mutation(s) in | Assessed | HGNC:1062 | ENSG00000106605 | 109750 | 7p13 | biliverdin reductase A | 21278388[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 19580635[PMID]_21278388[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/276405
- This record as JSON: /data/d/276405.json