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hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome (HLASA) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

MONDO:0014869

Also known as:HLASAhydrops, lactic acidosis, and sideroblastic anaemiahydrops, lactic acidosis, and sideroblastic anemia

Overview

GeneticsAutosomal recessive · LARS2 (chr 3)

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 always present findings: Decreased liver function, Seizure, Nonimmune hydrops fetalis, and Hypoalbuminemia and others. 27 total HPO annotations.

Organ System	Phenotype Count	Example Features
Heart and blood vessels	5	Ventricular septal defect, Fetal pericardial effusion, Second degree atrioventricular block

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.

LARS2 encodes leucyl-tRNA synthetase 2, mitochondrial (903 aa). Catalyzes the attachment of leucine to its cognate tRNA Highest expression in Cells EBV-transformed lymphocytes (22.1 TPM) and Cells Cultured fibroblasts (20.3 TPM).

Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome is associated with mutations in the LARS2 gene on chromosome 3.

LARS2 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.0.

Diagnosis

Genetic testing for LARS2 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 22 always present features.

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

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:617021

Orphanet

European rare disease database

Orphanet:528091

GARD

Genetic and Rare Diseases Info Center

GARD:17966

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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hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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