Fever-associated acute infantile liver failure syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic parenchymatous liver disease characterized by infantile or early childhood onset of recurrent episodes of acute liver failure precipitated by a febrile illness. During the life-threatening episodes, patients present with vomiting, lethargy, jaundice, as well as elevated levels of liver enzymes and coagulopathy. There is usually complete recovery between the episodes with conservative treatment.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Fever-associated acute infantile liver failure syndrome | |
| fr | Syndrome d'insuffisance hépatique aiguë infantile associée à la fièvre | |
| de | Fieber-assoziiertes akutes infantiles Leberversagen-Syndrom | |
| es | Síndrome de insuficiencia hepática aguda infantil asociada a fiebre | Síndrome de fallo hepático agudo infantil asociado a fiebre |
| it | Insufficienza epatica acuta infantile associata alla febbre | |
| nl | Koorts-geassocieerd acuut infantiel leverfalen-syndroom | |
| pt | Síndrome de insuficiência hepática aguda da infância associada a febre | |
| pl | Zespół ostrej niewydolności wątroby u niemowląt związany z gorączką | |
| cs | Syndrom jaterního selhání kojenců vázaného na horečku | |
| uk | Синдром гострої дитячої печінкової недостатності, повязаний з лихоманкою | |
| zh | 发热相关的急性婴儿肝衰竭综合征 | |
| tr | Ateşle-ilişkili akut infantil karaciğer yetmezliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616483 | BTNT | validated | |
| OMIM | 618641 | BTNT | validated | |
| ICD-10 | K72.0 | NTBT | attributed | validated |
| ICD-11 | DB91.1 | NTBT | attributed | validated |
| UMLS | C5681094 | 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:156604Genetic parenchymatous liver disease
rare genetic diseases - ORPHA:101939Rare parenchymal liver disease
rare hepatic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NBAS | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:15625 | ENSG00000151779 | 608025 | 2p24.3 | NBAS subunit of NRZ tethering complex | 26073778[PMID] |
| RINT1 | Disease-causing germline mutation(s) in | Assessed | HGNC:21876 | ENSG00000135249 | 610089 | 7q22.3 | RAD50 interactor 1 | 31204009[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 26073778[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26073778[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/464724
- This record as JSON: /data/d/464724.json