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Charcot-Marie-Tooth disease type 4G
Summary
- Synonym
-
- CMT4G
- Charcot-Marie-Tooth neuropathy type 4G
- HMSNR
- autosomal recessive Charcot-Marie-Tooth disease type 4G
- hereditary motor and sensory neuropathy Russe type
- Definition
- A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22.
- Super Class
- Charcot-Marie-Tooth disease type 4 autosomal recessive disease
External Links
- Disease Ontology
- DOID:0110196
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P19367 | Hexokinase-1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001618 | Dysphonia |
| HP:0002460 | Distal muscle weakness |
| HP:0003387 | Decreased number of large peripheral myelinated nerve fibers |
| HP:0003450 | Axonal regeneration |
| HP:0003470 | Paralysis |
| HP:0003621 | Juvenile onset |
| HP:0003676 | Progressive |
| HP:0007182 | Peripheral hypomyelination |
| HP:0008944 | Distal lower limb amyotrophy |
| HP:0009830 | Peripheral neuropathy |
