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hypomyelinating leukodystrophy 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomyelinating leukodystrophy 3

MONDO:0009843

Also known as:AIMP1 leukodystrophyHLD3Pelizaeus-Merzbacher-like disease due to AIMP1 mutation

Overview

Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene.

GeneticsAutosomal recessive · AIMP1 (chr 4)

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: Coarse facial features, Failure to thrive, Nystagmus, and Spastic paraparesis and others; and very common findings: Kyphoscoliosis, Joint contracture, and Lower limb amyotrophy. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Seizure, Global brain atrophy, Spastic paraparesis

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.

AIMP1 encodes aminoacyl tRNA synthetase complex interacting multifunctional protein 1 (312 aa). Non-catalytic component of the multisynthase complex. Stimulates the catalytic activity of cytoplasmic arginyl-tRNA synthase. Binds tRNA. Possesses inflammatory cytokine activity. Highest expression in Cells Cultured fibroblasts (60.4 TPM) and Cells EBV-transformed lymphocytes (59.5 TPM).

Hypomyelinating leukodystrophy 3 is caused by mutations in the AIMP1 gene on chromosome 4.

AIMP1 is classified as a druggable target (Cell Surface and Druggable Genome categories) with score 0.0.

Diagnosis

Genetic testing for AIMP1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 11 always present features, 3 very common features, 3 common features.

Estimated prevalence: Unknown (Unknown prevalence).

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 hypomyelinating leukodystrophy 3.

10 publications have been identified in PubMed for hypomyelinating leukodystrophy 3. Research spans Case Report / Case Series (40%), Basic Science / Preclinical (40%), and Epidemiology / Natural History (20%).

Research Type	Count	% of Total
Patient case studies	4	40%

Data assembled from 7 of 12 sources · Last updated Sep 20, 2026, 11:13 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:260600

Orphanet

European rare disease database

Orphanet:280293

GARD

Genetic and Rare Diseases Info Center

GARD:4266

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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Kisho

hypomyelinating leukodystrophy 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

hypomyelinating leukodystrophy 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications