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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:0002936 | Distal sensory impairment |
| HP:0003409 | Distal sensory impairment of all modalities |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0003693 | Distal amyotrophy |
| HP:0003701 | Proximal muscle weakness |
| HP:0007108 | Demyelinating peripheral neuropathy |
| HP:0007210 | Lower limb amyotrophy |
| HP:0007230 | Decreased distal sensory nerve action potential |
| HP:0007328 | Impaired pain sensation |
