# Charcot-Marie-Tooth disease type 4E

> Charcot-Marie-Tooth disease type 4 that has material basis in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23

**Wikidata**: [Q27677657](https://www.wikidata.org/wiki/Q27677657)  
**Source**: https://4ort.xyz/entity/charcot-marie-tooth-disease-type-4e


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
5. Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
7. UMLS 2023