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hypomyelinating leukodystrophy 13 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hypomyelinating leukodystrophy 13

MONDO:0014813

Also known as:HIKESHI leukodystrophyHLD13hypomyelinating leukodystrophy type 13

Overview

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

GeneticsAutosomal recessive · HIKESHI (chr 11)

ResearchLimited published research (4 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 always present findings: Delayed brainstem auditory evoked response conduction time, Delayed CNS myelination, Abnormal periventricular white matter morphology, and Leukodystrophy; and very common findings: Hypertonia, Feeding difficulties, Global developmental delay, and Secondary microcephaly. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	11	Exaggerated startle response, Clonus, Delayed brainstem auditory evoked response conduction time

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.

HIKESHI encodes heat shock protein nuclear import factor hikeshi (197 aa). Acts as a specific nuclear import carrier for HSP70 proteins following heat-shock stress: acts by mediating the nucleoporin-dependent translocation of ATP-bound HSP70 proteins into the nucleus. Highest expression in Ovary (46.4 TPM) and Uterus (45.5 TPM).

Hypomyelinating leukodystrophy 13 is caused by mutations in the HIKESHI gene on chromosome 11.

The HIKESHI protein participates in NPC transports Hikeshi:HSP70s:ATP from cytosol to nucleoplasm and HSP40s activate intrinsic ATPase activity of HSP70s in the nucleoplasm pathways.

HIKESHI is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for hypomyelinating leukodystrophy 13 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 4 always present features, 4 very common features, 7 common features.

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 13.

4 publications have been identified in PubMed for hypomyelinating leukodystrophy 13. Research spans Case Report / Case Series (75%) and Diagnostic / Biomarker (25%).

Recent Publications

Gentile F (2026). [PMID: 41887743](https://pubmed.ncbi.nlm.nih.gov/41887743/). *AJNR Am J Neuroradiol*. [Diagnostic / Biomarker]
Saleh MA (2025). [PMID: 40649816](https://pubmed.ncbi.nlm.nih.gov/40649816/). *Int J Mol Sci*. [Case Report / Case Series]
Büyükyılmaz G (2025). [PMID: 36974356](https://pubmed.ncbi.nlm.nih.gov/36974356/). *J Clin Res Pediatr Endocrinol*. [Case Report / Case Series]
Mallack EJ (2024). [PMID: 38922739](https://pubmed.ncbi.nlm.nih.gov/38922739/). *Am J Med Genet A*. [Case Report / Case Series]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 9:46 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616881

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 13

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

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Questions for Your Care Team

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