Transient familial neonatal hyperbilirubinemia
Synonyms: Lucey-Driscoll syndrome
- Type
- Disease
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare genetic hepatic disease characterized by very high serum bilirubin levels in a newborn, clinically presenting as jaundice during the first few days of life. The condition is usually self-resolving, although in some cases it can lead to kernicterus with corresponding symptoms (including lethargy, high-pitched crying, hypotonia, missing reflexes, vomiting, or seizures, among others), which may result in chronic disability and even death.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Transient familial neonatal hyperbilirubinemia | Lucey-Driscoll syndrome |
| fr | Ictère néonatal transitoire | Hyperbilirubinémie néonatale transitoire · Syndrome de Lucey-Driscoll |
| de | Transiente neonatale Hyperbilirubinämie, familiäre Form | Lucey-Driscoll-Syndrom |
| es | Hiperbilirrubinemia transitoria neonatal familiar | Síndrome de Lucey-Driscoll |
| it | Iperbilirubinemia neonatale transitoria familiare | Sindrome di Lucey-Driscoll |
| nl | Voorbijgaande familiale neonatale hyperbilirubinemie | Lucey-Driscollsyndroom |
| pt | Hiperbilirrubinemia transitória neonatal familiar | Síndrome Lucey-Driscoll |
| pl | Przejściowa rodzinna hiperbilirubinemia noworodków | Zespół Lucey i Driscoll |
| cs | Tranzientní familiární neonatální hyperbilirubinémie | Luceyho-Driscollův syndrom · Lucey-Driscollův syndrom |
| uk | Транзиторна сімейна неонатальна гіпербілірубінемія | Синдром Люсі-Дрісколла |
| zh | 短暂性家族性新生儿高胆红素血症 | Lucey-Driscoll综合征 |
| tr | Geçici ailesel yenidoğan hiperbilirubinemisi | Lucey-Driscoll sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 237900 | E | validated | |
| ICD-10 | P59.8 | NTBT | attributed | validated |
| ICD-11 | KA87.Y | NTBT | attributed | validated |
| MONDO | 0009383 | E | validated | |
| MeSH | C562692 | E | validated | |
| UMLS | C0270210 | E | validated | |
| GARD | 2791 | 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 |
|---|---|---|---|---|---|---|---|---|
| UGT1A1 | Candidate gene tested in | Not yet assessed | HGNC:12530 | ENSG00000241635 | 191740 | 2q37.1 | UDP glucuronosyltransferase family 1 member A1 | 23014115[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Not yet documented | — | 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/2312
- This record as JSON: /data/d/2312.json