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infantile liver failure syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile liver failure syndrome 1

MONDO:0024568

Also known as:LARS infantile liver failureinfantile liver failure caused by mutation in LARSinfantile liver failure syndrome type 1

Overview

Any infantile liver failure in which the cause of the disease is a mutation in the LARS gene.

GeneticsAutosomal recessive · LARS1 (chr 5)

ResearchLimited published research (5 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include sometimes findings: Full cheeks, Long toe, Delayed gross motor development, and Inner ear hearing loss (sensorineural hearing impairment) and others. 20 total HPO annotations.

Organ System	Phenotype Count	Example Features
Digestive system	4	Hepatic steatosis, Enlarged liver (hepatomegaly), Acute hepatic failure

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

LARS1 encodes leucyl-tRNA synthetase 1 (1,176 aa). Aminoacyl-tRNA synthetase that catalyzes the specific attachment of leucine to its cognate tRNA (tRNA(Leu)). Highest expression in Cells Cultured fibroblasts (104.3 TPM) and Cells EBV-transformed lymphocytes (72.1 TPM).

Infantile liver failure syndrome 1 is associated with mutations in the LARS1 gene on chromosome 5.

LARS1 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 52.2.

Diagnosis

Genetic testing for LARS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for infantile liver failure syndrome 1 has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for infantile liver failure syndrome 1.

5 publications have been identified in PubMed for infantile liver failure syndrome 1. Research spans Case Report / Case Series (40%), Diagnostic / Biomarker (20%), and Basic Science / Preclinical (20%).

Recent Publications

Fuchs A (2025). [PMID: 40400350](https://pubmed.ncbi.nlm.nih.gov/40400350/). *Clin Genet*. [Case Report / Case Series]
Li SY (2024). [PMID: 38844943](https://pubmed.ncbi.nlm.nih.gov/38844943/). *Orphanet J Rare Dis*. [Epidemiology / Natural History]
Uehara T (2024). [PMID: 38923116](https://pubmed.ncbi.nlm.nih.gov/38923116/). *Am J Med Genet A*. [Case Report / Case Series]
Hammann N (2024). [PMID: 38951950](https://pubmed.ncbi.nlm.nih.gov/38951950/). *J Inherit Metab Dis*. [Diagnostic / Biomarker]
Inoue M (2024). [PMID: 38807157](https://pubmed.ncbi.nlm.nih.gov/38807157/). *Orphanet J Rare Dis*. [Basic Science / Preclinical]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 8:41 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615438

Orphanet

European rare disease database

Orphanet:370088

GARD

Genetic and Rare Diseases Info Center

GARD:13114

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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infantile liver failure syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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