Crigler-Najjar syndrome type 2
Synonyms: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · Bilirubin-UGT deficiency type 2
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of Crigler Najjar syndrome (CNS), a rare hereditary disorder of bilirubin metabolism, characterized by unconjugated hyperbilirubinemia due to reduced and inducible activity of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated jaundice with a risk of developing bilirubin encephalopathy later in life due to triggers such as stress or infection.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Crigler-Najjar syndrome type 2 | Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2 · Bilirubin-UGT deficiency type 2 |
| fr | Syndrome de Crigler-Najjar type 2 | Déficit en bilirubine uridine-diphosphate glucuronosyltransférase type 2 · Déficit en bilirubine-UGT type 2 |
| de | Crigler-Najjar-Syndrom Typ 2 | Arias-Syndrom · Bilirubin UDP-Glucuronosyltransferase-Mangel Typ 2 · Bilirubin-UGT-Defizienz Typ 2 · Bilirubin-UGT-Mangel Typ 2 · Hyperbilirubinämie, hereditäre unkonjugierte, Typ 2 |
| es | Síndrome de Crigler-Najjar tipo 2 | Deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 2 · Deficiencia de bilirrubina-UGT tipo 2 |
| it | Sindrome di Crigler-Najjar tipo 2 | Deficit di UGT, tipo 2 · Deficit di bilirubina uridina-difosfato glucuronosiltransferasi tipo 2 · Deficit di bilirubina uridina-difosfato glucuronosiltransferasi, tipo 2 · Deficit di bilirubina-UGT tipo 2 |
| nl | Syndroom van Crigler-Najjar type 2 | Bilirubine-UGT-deficiëntie type 2 · Deficiëntie van bilirubine-uridinedifosfaat-glucuronosyltransferase type 2 |
| pt | Síndrome Crigler-Najjar tipo 2 | Deficiência de bilirrubina-UGT tipo 2 |
| pl | Zespół Criglera i Najjara typu 2 | Dziedziczna niesprzężona hiperbilirubinemia typu 2 · Niedobó UGT typu 2 · Niedobór bilirubiny-UGT typu 2 · Niedobór urydynodifosforan-glukuronosylotransferazy bilirubiny typu 2 · Zespół Ariasa |
| cs | Criglerův-Najjarův syndrom II. typu | Deficit bilirubin-uridin-difosfát-glukuronosyl-transferázy II. typu · Deficit bilirubin-UGT, typ 2 · Hereditární nekonjugovaná hyperbilirubinémie, typ 2 · Deficit UGT, typ 2 · Ariasův syndrom · Crigler-Najjarův syndrom II. typu |
| uk | Синдром Криглера-Найяра, тип 2 | Дефіцит уридиндифосфатглюкуронозилтрансферази білірубіну, тип 2 · Дефіцит білірубіну-УГТ тип 2 |
| zh | Crigler-Najjar综合征2型 | 胆红素尿苷二磷酸葡萄糖醛酸转移酶缺乏症2型 |
| tr | Crigler-Najjar sendromu tip 2 | Arias sendromu · UGT eksikliği tip 2 · Bilirubin-UGT eksikliği tip 2 · Kalıtsal konjuge olmayan hiperbilirubinemi tip 2 · Bilirubin üridindifosfat glukuronosiltransferaz eksikliği tip 2 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606785 | E | validated | |
| ICD-10 | E80.5 | NTBT | attributed | validated |
| ICD-11 | 5C58.00 | NTBT | index | validated |
| MONDO | 0011725 | E | validated | |
| MeSH | C536213 | E | validated | |
| UMLS | C2931132 | E | validated | |
| GARD | 8683 | E | validated | |
| MedDRA | 10011387 | 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 (1):
- ORPHA:205Crigler-Najjar syndrome
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| UGT1A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:12530 | ENSG00000241635 | 191740 | 2q37.1 | UDP glucuronosyltransferase family 1 member A1 | 16456422[PMID]_17098698[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
Run the differential on the 3 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79235
- This record as JSON: /data/d/79235.json