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hypomyelination with brain stem and spinal cord involvement and leg spasticity (HBSL) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomyelination with brain stem and spinal cord involvement and leg spasticity

MONDO:0014115

Also known as:HBSLaspartyl-tRNA synthetase deficiencyhypomyelination with brainstem and spinal cord involvement and leg spasticity

Overview

GeneticsAutosomal recessive · DARS1 (chr 2)

ResearchLimited published research (1 article)

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: Babinski sign, Lower limb spasticity, and Brisk reflexes; and very common findings: Axial hypotonia and Hypoplasia of the corpus callosum. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	9	Spastic diplegia, Mild intellectual disability, Babinski sign

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.

DARS1 encodes aspartyl-tRNA synthetase 1 (501 aa). Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of th... Highest expression in Cells EBV-transformed lymphocytes (179.0 TPM) and Cells Cultured fibroblasts (120.9 TPM).

Hypomyelination with brain stem and spinal cord involvement and leg spasticity is associated with mutations in the DARS1 gene on chromosome 2.

DARS1 is classified as a druggable target (Enzyme category) with score 13.1.

Diagnosis

Genetic testing for DARS1 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 3 always present features, 2 very common features, 8 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 hypomyelination with brain stem and spinal cord involvement and leg spasticity.

1 publication has been identified in PubMed for hypomyelination with brain stem and spinal cord involvement and leg spasticity. Research spans Review / Meta-Analysis (100%).

Recent Publications

Zhang H (2025). [PMID: 39487674](https://pubmed.ncbi.nlm.nih.gov/39487674/). *IUBMB Life*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 3:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615281

Orphanet

European rare disease database

Orphanet:363412

GARD

Genetic and Rare Diseases Info Center

GARD:17554

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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hypomyelination with brain stem and spinal cord involvement and leg spasticity

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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