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neuropathy, congenital hypomyelinating, 3 (CHN3) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuropathy, congenital hypomyelinating, 3

MONDO:0020766

Also known as:CHN3hypomyelinating neuropathy, congenital, 3

Overview

GeneticsAutosomal recessive · CNTNAP1 (chr 17)

OnsetNEONATAL

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 very common findings: Epicanthus; and common findings: Decreased motor nerve conduction velocity, Narrow palate, Reduced eye contact, and Thick vermilion border and others. 40 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	6	Dystonia, Seizure, Overactive reflexes (hyperreflexia)

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.

CNTNAP1 encodes contactin associated protein 1 (1,384 aa). Required, with CNTNAP2, for radial and longitudinal organization of myelinated axons. Highest expression in Brain Cerebellum (163.9 TPM) and Brain Cerebellar Hemisphere (141.0 TPM).

Neuropathy, congenital hypomyelinating, 3 is associated with mutations in the CNTNAP1 gene on chromosome 17.

CNTNAP1 is classified as a druggable target (Druggable Genome and Fibrinogen categories) with score 0.0.

Diagnosis

Genetic testing for CNTNAP1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for neuropathy, congenital hypomyelinating, 3 has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 very common feature, 14 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 neuropathy, congenital hypomyelinating, 3.

8 publications have been identified in PubMed for neuropathy, congenital hypomyelinating, 3. Research spans Review / Meta-Analysis (25%), Case Report / Case Series (25%), and Diagnostic / Biomarker (13%).

Recent Publications

Zhao M (2026). [PMID: 41989346](https://pubmed.ncbi.nlm.nih.gov/41989346/). *Technol Health Care*. [Review / Meta-Analysis]
Ward KS (2026). [PMID: 40488457](https://pubmed.ncbi.nlm.nih.gov/40488457/). *Brain : a journal of neurology*. [Epidemiology / Natural History]
Higuchi Y (2026). [PMID: 41937739](https://pubmed.ncbi.nlm.nih.gov/41937739/). *Genet Med*. [Basic Science / Preclinical]
Sell LB (2026). [PMID: 41656591](https://pubmed.ncbi.nlm.nih.gov/41656591/). *Muscle & nerve*. [Review / Meta-Analysis]
Kobayashi-Ujiie Y (2026). [PMID: 41894426](https://pubmed.ncbi.nlm.nih.gov/41894426/). *PloS one*. [Gene Therapy / Novel Therapeutics]

Data assembled from 5 of 12 sources · Last updated Sep 18, 2026, 12:54 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618186

GARD

Genetic and Rare Diseases Info Center

GARD:18567

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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neuropathy, congenital hypomyelinating, 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

GARD

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Questions for Your Care Team

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