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hypomyelinating leukodystrophy 9 (HLD9) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomyelinating leukodystrophy 9

MONDO:0014506

Also known as:HLD9RARS leukodystrophyRARS-related autosomal recessive hypomyelinating leukodystrophy

Overview

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

GeneticsAutosomal recessive · RARS1 (chr 5)

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: Mild intellectual disability, Nystagmus, and Global developmental delay; and common findings: Ataxia, Lower limb spasticity, and Brain shrinkage (cerebral atrophy). 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	12	Mild intellectual disability, Dystonia, Ataxia

Genetic Landscape

RARS1 function has not been fully characterized.

Hypomyelinating leukodystrophy 9 is associated with mutations in the RARS1 gene on chromosome 5.

Diagnosis

Genetic testing for RARS1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hypomyelinating leukodystrophy 9 has been reported in the published literature.

Prognosis

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

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 hypomyelinating leukodystrophy 9.

16 publications have been identified in PubMed for hypomyelinating leukodystrophy 9. Research spans Basic Science / Preclinical (31%), Case Report / Case Series (25%), and Epidemiology / Natural History (25%).

Research Type	Count	% of Total
Laboratory research	5	31%

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 2:11 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616140

Orphanet

European rare disease database

Orphanet:438114

GARD

Genetic and Rare Diseases Info Center

GARD:17734

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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hypomyelinating leukodystrophy 9

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 9

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