infantile liver failure syndrome 1
Findings
No curated finding names infantile liver failure syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.
Definition from the Mondo Disease Ontology (MONDO:0024568), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Acute hepatic failureHPOHP:0006554
- AnemiaHPOHP:0001903
- Failure to thriveHPOHP:0001508
- Global developmental delayHPOHP:0001263
- SeizureHPOHP:0001250
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- LARS1HGNC:6512
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: infantile liver failure syndrome 1
- Also called
- infantile liver failure caused by mutation in LARSinfantile liver failure syndrome type 1LARS infantile liver failure