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leukodystrophy, hypomyelinating, 24 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 24

MONDO:0859242

Overview

GeneticsATP11A (chr 13)

ResearchLimited published research (8 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: Peripheral axonal neuropathy, Severe short stature, Brain shrinkage (cerebral atrophy), and Microcephaly and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Peripheral axonal neuropathy, Brain shrinkage (cerebral atrophy), Loss of previously acquired skills (developmental regression)

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.

ATP11A encodes ATPase phospholipid transporting 11A (1,134 aa). Catalytic component of a P4-ATPase flippase complex which catalyzes the hydrolysis of ATP coupled to the transport of aminophospholipids, phosphatidylserines (PS) and phosphatidylethanolamines (PE), from the outer to the inner leaflet of the plasma membrane. Highest expression in Lung (45.9 TPM) and Pituitary (26.8 TPM).

Leukodystrophy, hypomyelinating, 24 is associated with mutations in the ATP11A gene on chromosome 13.

ATP11A is classified as a druggable target (Transporter category) with score 0.0.

Diagnosis

Genetic testing for ATP11A is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for leukodystrophy, hypomyelinating, 24 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 18 always present 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 leukodystrophy, hypomyelinating, 24.

8 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 24. Research spans Case Report / Case Series (25%), Basic Science / Preclinical (25%), and Other (13%).

Recent Publications

Li JY (2026). [PMID: 42015255](https://pubmed.ncbi.nlm.nih.gov/42015255/). *J Transl Med*. [Review / Meta-Analysis]
Rey F (2026). [PMID: 41634725](https://pubmed.ncbi.nlm.nih.gov/41634725/). *Cell Commun Signal*. [Basic Science / Preclinical]
Le A (2026). [PMID: 41518854](https://pubmed.ncbi.nlm.nih.gov/41518854/). *Pediatr Neurol*. [Case Report / Case Series]
Cortes C (2026). [PMID: 41547109](https://pubmed.ncbi.nlm.nih.gov/41547109/). *Epilepsy Res*. [Basic Science / Preclinical]
Coppola F (2026). [PMID: 40841163](https://pubmed.ncbi.nlm.nih.gov/40841163/). *AJNR Am J Neuroradiol*. [Diagnostic / Biomarker]
Shiva M (2025). [PMID: 39558671](https://pubmed.ncbi.nlm.nih.gov/39558671/). *J Child Neurol*. [Epidemiology / Natural History]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 1:58 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619851

Questions for Your Care Team

→Should I pursue genetic testing for ATP11A, 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, 24

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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