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leukodystrophy, hypomyelinating, 28 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 28

MONDO:0975833

Overview

GeneticsMAL (chr 2)

ResearchLimited published research (5 articles)

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.

MAL encodes mal, T cell differentiation protein (MAL blood group) (153 aa). May be involved in vesicular trafficking from the Golgi apparatus to the cell membrane. Plays a role in the maintenance of the myelin sheath, and in axon-glia and glia-glia interactions Highest expression in Esophagus Mucosa (2,398 TPM) and Vagina (634.4 TPM).

Leukodystrophy, hypomyelinating, 28 is associated with mutations in the MAL gene on chromosome 2.

MAL is classified as a druggable target with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for leukodystrophy, hypomyelinating, 28 has been reported in the published literature.

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 leukodystrophy, hypomyelinating, 28.

5 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 28. Research spans Diagnostic / Biomarker (80%) and Case Report / Case Series (20%).

Recent Publications

Oikarainen JH (2025). [PMID: 39080972](https://pubmed.ncbi.nlm.nih.gov/39080972/). *Developmental medicine and child neurology*. [Diagnostic / Biomarker]
Lewis RG (2025). [PMID: 41239373](https://pubmed.ncbi.nlm.nih.gov/41239373/). *BMC medical genomics*. [Diagnostic / Biomarker]
Tokatly Latzer I (2025). [PMID: 40741980](https://pubmed.ncbi.nlm.nih.gov/40741980/). *Annals of clinical and translational neurology*. [Diagnostic / Biomarker]
Siori D (2024). [PMID: 38790154](https://pubmed.ncbi.nlm.nih.gov/38790154/). *Genes*. [Case Report / Case Series]
Harting I (2024). [PMID: 39098096](https://pubmed.ncbi.nlm.nih.gov/39098096/). *European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society*. [Diagnostic / Biomarker]

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 5:49 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:620978

Questions for Your Care Team

→Should I pursue genetic testing for MAL, and what would the results mean for my family?
→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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leukodystrophy, hypomyelinating, 28

Overview

Genetic Landscape

Diagnosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team