ORPHA:480476
Progressive familial intrahepatic cholestasis type 5
Synonyms: NR1H4 deficiency · PFIC5
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive familial intrahepatic cholestasis type 5 | NR1H4 deficiency · PFIC5 |
| fr | Cholestase intrahépatique familiale progressive type 5 | Déficit en NR1H4 · PFIC5 |
| de | Cholestase, intrahepatische progressive, familiäre, Typ 5 | NR1H4-Mangel · PFIC5 |
| es | Colestasis intrahepática familiar progresiva tipo 5 | Deficiencia de NR1H4 · PFIC5 |
| it | Colestasi intraepatica familiare progressiva tipo 5 | |
| nl | Progressieve familiale intrahepatische cholestase type 5 | NR1H4-deficiëntie · PFIC5 |
| pt | Colestase intra-hepática progressiva familiar tipo 5 | |
| pl | Rodzinna postępująca choleostaza wewnątrzwątrobowa typu 5 | Niedobór NR1H4 · PFIC5 |
| cs | Progresivní familiární intrahepatální cholestáza, typ 5 | PFIC5 · NR1H4 deficiency · NR1H4 deficit |
| uk | Прогресуючий сімейний внутрішньопечінковий холестаз, тип 5 | Дефіцит NR1H4 · PFIC5 |
| zh | 进行性家族性肝内胆汁淤积5型 | NR1H4缺陷 |
| tr | İlerleyici ailesel intrahepatik kolestaz tip 5 | PFIC5 · NR1H4 eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617049 | E | validated | |
| ICD-10 | K76.8 | NTBT | attributed | validated |
| ICD-11 | 5C58.03 | NTBT | attributed | validated |
| MONDO | 0014884 | E | validated | |
| UMLS | C4310747 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:172Progressive familial intrahepatic cholestasis
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NR1H4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7967 | ENSG00000012504 | 603826 | 12q23.1 | nuclear receptor subfamily 1 group H member 4 | 26888176[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 26888176[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26888176[PMID] |
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
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/480476
- This record as JSON: /data/d/480476.json