Acute infantile liver failure-multisystemic involvement syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illnesses can exacerbate deterioration of liver failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acute infantile liver failure-multisystemic involvement syndrome | |
| fr | Syndrome d'insuffisance hépatique aiguë infantile-manifestations multisystémiques | |
| de | Akutes infantiles Leberversagen-multisystemische Beteiligung-Syndrom | IFLS · Syndrom des akuten kindlichen Leberversagens mit multisystemischer Beteiligung |
| es | Síndrome de insuficiencia hepática aguda-afectación multisistémica del lactante | Síndrome de fallo hepático agudo-afectación multisistémica del lactante |
| it | Sindrome da insufficienza epatica acuta infantile ed interessamento multisistemico | |
| nl | Acuut infantiel leverfalen - multisystemische betrokkenheid-syndroom | |
| pt | Síndrome de insuficiência hepática aguda-envolvimento multissistémico da infância | |
| pl | Zespół ostrej dziecięcej niewydolności wątroby i zaburzeń wieloukładowych | |
| cs | Akutní selhání jater kojenců s multisystémovým postižením | |
| uk | Синдром гострої дитячої печінкової недостатності-мультисистемного ураження | |
| zh | 急性婴幼儿肝衰竭-多系统受累综合征 | |
| tr | Akut infantil karaciğer yetmezliği-multisistemik tutulum sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615438 | E | validated | |
| ICD-10 | K72.0 | NTBT | attributed | validated |
| ICD-11 | DB91.1 | NTBT | attributed | validated |
| MONDO | 0024568 | E | validated | |
| UMLS | C4751598 | E | validated | |
| GARD | 13114 | 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
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LARS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6512 | ENSG00000133706 | 151350 | 5q32 | leucyl-tRNA synthetase 1 | 22607940[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 22607940[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/370088
- This record as JSON: /data/d/370088.json