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leukodystrophy, hypomyelinating, 22 (HLD22) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 22

MONDO:0025701

Also known as:HLD22

Overview

GeneticsAutosomal dominant · CLDN11 (chr 3)

OnsetCHILDHOOD

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: Borderline intellectual disability, Astigmatism, Delayed speech and language development, and Strabismus and others; and common findings: Axial hypotonia, Inability to walk, Short neck, and Optic disc pallor and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Borderline intellectual disability, Inability to walk, Delayed speech and language development

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.

CLDN11 encodes claudin 11 (207 aa). Plays a major role in tight junction-specific obliteration of the intercellular space, through calcium-independent cell-adhesion activity Highest expression in Brain Spinal cord cervical c-1 (203.3 TPM) and Cells Cultured fibroblasts (163.9 TPM).

Leukodystrophy, hypomyelinating, 22 is associated with mutations in the CLDN11 gene on chromosome 3.

CLDN11 is classified as a druggable target with score 8.0.

Diagnosis

Genetic testing for CLDN11 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for leukodystrophy, hypomyelinating, 22 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 16 always present features, 5 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 leukodystrophy, hypomyelinating, 22.

8 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 22. Research spans Basic Science / Preclinical (38%), Case Report / Case Series (25%), and Other (13%).

Recent Publications

Gjervan SC (2026). [PMID: 41932029](https://pubmed.ncbi.nlm.nih.gov/41932029/). *Stem Cell Res*. [Basic Science / Preclinical]
Wang J (2025). [PMID: 41272208](https://pubmed.ncbi.nlm.nih.gov/41272208/). *Sci Rep*. [Basic Science / Preclinical]
Saleh MA (2025). [PMID: 40649816](https://pubmed.ncbi.nlm.nih.gov/40649816/). *Int J Mol Sci*. [Case Report / Case Series]
Kobayashi S (2025). [PMID: 40230506](https://pubmed.ncbi.nlm.nih.gov/40230506/). *BBA Adv*. [Basic Science / Preclinical]
Hosseini S (2025). [PMID: 40051677](https://pubmed.ncbi.nlm.nih.gov/40051677/). *Front Cell Neurosci*. [Other]
Chapleau A (2025). [PMID: 41315317](https://pubmed.ncbi.nlm.nih.gov/41315317/). *NPJ Genom Med*. [Review / Meta-Analysis]

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 5:47 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:619328

Questions for Your Care Team

→Should I pursue genetic testing for CLDN11, 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, 22

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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