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leukodystrophy, hypomyelinating, 20 (HLD20) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

leukodystrophy, hypomyelinating, 20

MONDO:0033657

Also known as:HLD20

Overview

GeneticsAutosomal recessive · CNP (chr 17)

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: Progressive microcephaly, Hypertonia, Torticollis, and Spastic tetraplegia and others.

Organ System	Phenotype Count	Example Features
Brain and nerves	7	Spastic tetraplegia, Babinski sign, 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.

CNP encodes 2',3'-cyclic nucleotide 3' phosphodiesterase (421 aa). Myelin-associated enzyme that catalyzes the phosphodiester hydrolysis of 2',3'-cyclic nucleotides to 2'-nucleotides. Highest expression in Brain Spinal cord cervical c-1 (781.8 TPM) and Nerve Tibial (280.9 TPM).

Leukodystrophy, hypomyelinating, 20 is associated with mutations in the CNP gene on chromosome 17.

The CNP protein participates in TLR folding by chaperones GP96 and CNPY3 pathway.

CNP is classified as a druggable target (Druggable Genome category) with score 0.0.

Diagnosis

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

Biomarker and diagnostic research for leukodystrophy, hypomyelinating, 20 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 20 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, 20.

10 publications have been identified in PubMed for leukodystrophy, hypomyelinating, 20. Research spans Case Report / Case Series (50%), Diagnostic / Biomarker (30%), and Basic Science / Preclinical (10%).

Research Type	Count	% of Total
Patient case studies	5	50%

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:619071

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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Kisho

leukodystrophy, hypomyelinating, 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

leukodystrophy, hypomyelinating, 20

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications