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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:0007230 | Decreased distal sensory nerve action potential |
| HP:0003477 | Peripheral axonal neuropathy |
| HP:0001762 | Talipes equinovarus |
| HP:0001761 | Pes cavus |
| HP:0003693 | Distal amyotrophy |
| HP:0002650 | Scoliosis |
| HP:0002495 | Impaired vibratory sensation |
| HP:0001155 | Abnormality of the hand |
| HP:0002505 | Loss of ambulation |
| HP:0003409 | Distal sensory impairment of all modalities |
