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A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.
Features include always present findings: Decreased motor nerve conduction velocity, Distal amyotrophy, Distal muscle weakness, and Distal sensory impairment and others; and very common findings: Muscle weakness. 35 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Muscles | 7 | Distal muscle weakness, Limb muscle weakness, Foot dorsiflexor weakness |
Brain and nerves | 4 | Steppage gait, Hyporeflexia, Peripheral neuropathy |
Bones and joints | 4 | Kyphoscoliosis, Sideways curvature of the spine (scoliosis), Skeletal muscle atrophy |
Arms and legs | 3 | Limb muscle weakness, Split hand, Foot dorsiflexor weakness |
Lab test results | 2 | Increased CSF protein concentration, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration) |
Heart and blood vessels | 1 | Hypertrophic nerve changes |
Ears | 1 | Hearing loss (hearing impairment) |
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).
Charcot-Marie-Tooth disease type 1B 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.
Genetic testing for MPZ is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 5 always present features, 1 very common feature, 13 common features.
Estimated prevalence: 1-9 in 100,000 (Uncommon).
2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
6 publications have been identified in PubMed for Charcot-Marie-Tooth disease type 1B. Research spans Basic Science / Preclinical (33%), Gene Therapy / Novel Therapeutics (33%), and Review / Meta-Analysis (17%).
Georgiou E (2026). [PMID: 42120546](https://pubmed.ncbi.nlm.nih.gov/42120546/). *Gene Ther*. [Gene Therapy / Novel Therapeutics]
Touvier T (2025). [PMID: 39979221](https://pubmed.ncbi.nlm.nih.gov/39979221/). *Brain : a journal of neurology*. [Basic Science / Preclinical]
Finsterer J (2025). [PMID: 40964579](https://pubmed.ncbi.nlm.nih.gov/40964579/). *Cureus*. [Case Report / Case Series]
Zhu J (2025). [PMID: 39986019](https://pubmed.ncbi.nlm.nih.gov/39986019/). *Stem cell research*. [Basic Science / Preclinical]
Christou M (2025). [PMID: 40055046](https://pubmed.ncbi.nlm.nih.gov/40055046/). *Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics*. [Gene Therapy / Novel Therapeutics]
McCulloch MK (2024). [PMID: 39273178](https://pubmed.ncbi.nlm.nih.gov/39273178/). *International journal of molecular sciences*. [Review / Meta-Analysis]
Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 2:45 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center