ORPHA:205
Crigler-Najjar syndrome
Synonyms: Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare hereditary disorder of bilirubin metabolism characterized by unconjugated hyperbilirubinemia due to a either a complete (type 1) or partial and inducible (type 2) hepatic deficit of UDP-glucuronosyltransferase 1A1 activity. The disorder manifests with neonatal jaundice with a risk of developing bilirubin encephalopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Crigler-Najjar syndrome | Bilirubin uridinediphosphate glucuronosyltransferase deficiency · Bilirubin-UGT deficiency |
| fr | Syndrome de Crigler-Najjar | Déficit en bilirubine uridine-diphosphate glucuronosyltransférase · Déficit en bilirubine-UGT |
| de | Crigler-Najjar-Syndrom | Bilirubin-UGT-Defizienz · Bilirubin-UGT-Mangel · Bilirubin-Uridindiphosphat-Glucuronosyltransferase-Mangel · Hyperbilirubinämie, hereditäre unkonjugierte |
| es | Síndrome de Crigler-Najjar | Deficiencia de bilirrubina uridinadifosfato glucuronosiltransferasa · Deficiencia de bilirrubina-UGT |
| it | Sindrome di Crigler-Najjar | Deficit di bilirubina uridina-difosfato glucuronosiltransferasi · Deficit di bilirubina-UGT |
| nl | Syndroom van Crigler-Najjar | Bilirubine-UGT-deficiëntie · Deficiëntie van bilirubine-uridinedifosfaat-glucuronosyltransferase |
| pt | Síndrome Crigler-Najjar | Deficiência de bilirrubina uridinadifosfato glucuronosiltransferase · Deficiência de bilirrubina-UGT |
| pl | Zespół Criglera i Najjara | Dziedziczna nieskoniugowana hiperbilirubinemia · Niedobór bilirubiny-UGT · Niedobór UGT · Niedobór urydynodifosforanu glukuronylotransferazy bilirubiny |
| cs | Criglerův-Najjarův syndrom | Deficit bilirubin-UDP transferasy · Deficit bilirubin-UGT · Deficit UGT · Kongenitální hyperbilirubinémie · Kongenitální nonhemolytická žloutenka · Familiární nekonjugovaná hyperbilirubinémie · Dědičná nekonjugovaná hyperbilirubinémie · Crigler-Najjarův syndrom |
| uk | Синдром Криглера-Наджара | Дефіцит білірубін-уридиндифосфатглюкуронозилтрансферази · Дефіцит білірубін-УГТ |
| zh | Crigler-Najjar综合征 | 胆红素尿苷二磷酸葡糖醛酸转移酶缺乏症 |
| tr | Crigler-Najjar sendromu | UGT eksikliği · Bilirubin-UGT eksikliği · Kalıtsal konjuge olmayan hiperbilirubinemi · Bilirubin üridindifosfat glukuronosiltransferaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 218800 | BTNT | validated | |
| OMIM | 606785 | BTNT | validated | |
| ICD-10 | E80.5 | E | specific | validated |
| ICD-11 | 5C58.00 | E | specific | validated |
| MONDO | 0009044 | E | validated | |
| MeSH | D003414 | E | validated | |
| UMLS | C5551003 | E | validated | |
| MedDRA | 10011386 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:309816Disorder of bilirubin metabolism and excretion
rare inborn errors of metabolism; rare genetic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:101940Rare metabolic liver disease
rare genetic diseases; rare hepatic diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| UGT1A1 | ORPHA:79234Crigler-Najjar syndrome type 1 | 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] |
| UGT1A1 | ORPHA:79235Crigler-Najjar syndrome type 2 | 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] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 1 / 100 000 | Europe | Value and class | Validated | European Medicines Agency 2014[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
22 annotations · validated 2024-04-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000952 | Jaundice | |
| HP:0003265 | Neonatal hyperbilirubinemia | |
| HP:0008282 | Unconjugated hyperbilirubinemia | |
| Frequent (79-30%) | ||
| HP:0001252 | Hypotonia | |
| HP:0002033 | Poor suck | |
| Occasional (29-5%) | ||
| HP:0006958 | Abnormal auditory evoked potentials | |
| HP:0100543 | Cognitive impairment | |
| HP:0001259 | Coma | |
| HP:0002329 | Drowsiness | |
| HP:0006297 | Enamel hypoplasia | |
| HP:0000365 | Hearing impairment | |
| HP:0001433 | Hepatosplenomegaly | |
| HP:0025430 | High-pitched cry | |
| HP:0002383 | Infectious encephalitis | |
| HP:0001343 | Kernicterus | |
| HP:0001254 | Lethargy | |
| HP:0002354 | Memory impairment | |
| HP:0000597 | Ophthalmoparesis | |
| HP:0002179 | Opisthotonus | |
| HP:0000989 | Pruritus | |
| HP:0001250 | Seizure | |
| HP:0002321 | Vertigo | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32965842[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/205
- This record as JSON: /data/d/205.json