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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:0008081 | Pes valgus |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0009129 | Upper limb amyotrophy |
| HP:0010830 | Impaired tactile sensation |
| HP:0011096 | Peripheral demyelination |
| HP:0012078 | Motor conduction block |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000508 | Ptosis |
| HP:0001265 | Hyporeflexia |
