Crigler-Najjar syndrome type 1
Synonyms: Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A form of Crigler Najjar syndrome (CNS), a hereditary disorder of hepatic bilirubin conjugation, characterized by severe neonatal unconjugated hyperbilirubinemia due to a complete absence of hepatic UDP-glucuronosyltransferase 1A1. The disorder clinically manifests with neonatal, isolated, severe and permanent jaundice with a permanent risk of bilirubin encephalopathy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Crigler-Najjar syndrome type 1 | Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1 · Bilirubin-UGT deficiency type 1 |
| fr | Syndrome de Crigler-Najjar type 1 | Déficit en bilirubine uridine-diphosphate glucuronosyltransférase type 1 · Déficit en bilirubine-UGT type 1 |
| de | Crigler-Najjar-Syndrom Typ 1 | Bilirubin UDP-Glucuronosyltransferase-Mangel Typ 1 · Bilirubin-UGT-Defizienz Typ 1 · Bilirubin-UGT-Mangel Typ 1 · Hyperbilirubinämie, hereditäre unkonjugierte, Typ 1 |
| es | Síndrome de Crigler-Najjar tipo 1 | Deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa tipo 1 · Deficiencia de bilirrubina-UGT tipo 1 |
| it | Sindrome di Crigler-Najjar tipo 1 | Deficit di UGT, tipo 1 · Deficit di bilirubina uridina-difosfato glucuronosiltransferasi tipo 1 · Deficit di bilirubina-UGT tipo 1 · Iperbilirubinemia ereditaria non coniugata, tipo 1 |
| nl | Syndroom van Crigler-Najjar type 1 | Bilirubine-UGT-deficiëntie type 1 · Deficiëntie van bilirubine-uridinedifosfaat-glucuronosyltransferase type 1 |
| pt | Síndrome Crigler-Najjar tipo 1 | Deficiência de bilirrubina-UGT tipo 1 |
| pl | Zespół Criglera i Najjara typu 1 | Dziedziczna niesprzężona hiperbilirubinemia typu 1 · Niedobór bilirubiny-UGT typu 1 · Niedobór UGT typu 1 · Niedobór urydynodifosforan-glukonylotransferazy bilirubiny typu 1 |
| cs | Criglerův-Najjarův syndrom I. typu | Deficit bilirubin-uridin-difosfát-glukuronosyl-transferázy, typ 1 · Deficit bilirubin-UGT, typ 1 · Hereditární nekonjugovaná hyperbilirubinémie, typ 1 · Deficit UGT, typ 1 · Crigler-Najjarův syndrom I. typu |
| uk | Синдром Криглера-Найяра, тип 1 | Дефіцит уридиндифосфатглюкуронозилтрансферази білірубіну, тип 1 · Дефіцит білірубіну-УГТ тип 1 |
| zh | Crigler-Najjar综合征1型 | 胆红素尿苷二磷酸葡萄糖醛酸转移酶缺乏症1型 |
| tr | Crigler-Najjar sendromu tip 1 | UGT eksikliği tip 1 · Bilirubin-UGT eksikliği tip 1 · Kalıtsal konjuge olmayan hiperbilirubinemi tip 1 · Bilirubin üridindifosfat glukuronosiltransferaz eksikliği tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218800 | E | validated | |
| ICD-10 | E80.5 | NTBT | attributed | validated |
| ICD-11 | 5C58.00 | NTBT | index | validated |
| MONDO | 0021020 | E | validated | |
| UMLS | C0010324 | E | validated | |
| GARD | 47 | E | validated | |
| MedDRA | 10057034 | 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 | 9039987[PMID]_9497253[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0001080 | Biliary tract abnormality | |
| HP:0008947 | Floppy infant | |
| HP:0001343 | Kernicterus | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0006579 | Prolonged neonatal jaundice | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| Occasional (29-5%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0000365 | Hearing impairment | |
| HP:0001249 | Intellectual disability | |
| HP:0002354 | Memory impairment | |
| HP:0012246 | Oculomotor nerve palsy | |
| HP:0001250 | Seizure | |
| HP:0001337 | Tremor | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 9347003[PMID]_12983120[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79234
- This record as JSON: /data/d/79234.json