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neuropathy, congenital hypomyelinating, 2 (CHN2) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

neuropathy, congenital hypomyelinating, 2

MONDO:0020765

Also known as:CHN2hypomyelinating neuropathy, congenital, 2

Overview

GeneticsAutosomal dominant · MPZ (chr 1)

ResearchLimited published research (3 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: Decreased motor nerve conduction velocity, Distal amyotrophy, Low muscle tone (hypotonia), and Motor delay and others. 23 total HPO annotations.

Organ System	Phenotype Count	Example Features
Muscles	5	Low muscle tone (hypotonia), Severe muscular hypotonia, Muscle weakness

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.

MPZ encodes myelin protein zero (248 aa). Is an adhesion molecule necessary for normal myelination in the peripheral nervous system. It mediates adhesion between adjacent myelin wraps and ultimately drives myelin compaction Highest expression in Nerve Tibial (5,301 TPM) and Colon Sigmoid (33.9 TPM).

Neuropathy, congenital hypomyelinating, 2 is associated with mutations in the MPZ gene on chromosome 1.

The MPZ protein participates in MPZ gene:EGR2:SOX10:SMARCA4, MPZ gene expression, and EGR2, SOX10 and SMARCA4 bind the MPZ gene pathways.

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

Diagnosis

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

Prognosis

Phenotype severity distribution: 16 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 neuropathy, congenital hypomyelinating, 2.

3 publications have been identified in PubMed for neuropathy, congenital hypomyelinating, 2. Research spans Case Report / Case Series (33%), Basic Science / Preclinical (33%), and Epidemiology / Natural History (33%).

Recent Publications

Ward KS (2026). [PMID: 40488457](https://pubmed.ncbi.nlm.nih.gov/40488457/). *Brain : a journal of neurology*. [Epidemiology / Natural History]
Ma X (2026). [PMID: 41178531](https://pubmed.ncbi.nlm.nih.gov/41178531/). *Glia*. [Basic Science / Preclinical]
Wang H (2024). [PMID: 39583069](https://pubmed.ncbi.nlm.nih.gov/39583069/). *SAGE open medical case reports*. [Case Report / Case Series]

Data assembled from 5 of 12 sources · Last updated Sep 17, 2026, 10:16 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:618184

Questions for Your Care Team

→Should I pursue genetic testing for MPZ, 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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neuropathy, congenital hypomyelinating, 2

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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