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Charcot-Marie-Tooth disease type 2Y
Summary
- Synonym
-
- CMT2 due to VCP mutation
- CMT2Y
- Charcot-Marie-Tooth neuropathy type 2Y
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
- autosomal dominant axonal Charcot-Marie-Tooth type 2Y
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110168
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P55072 | Transitional endoplasmic reticulum ATPase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002936 | Distal sensory impairment |
| HP:0003731 | Quadriceps muscle weakness |
| HP:0008994 | Proximal muscle weakness in lower limbs |
| HP:0003394 | Muscle spasm |
| HP:0009053 | Distal lower limb muscle weakness |
| HP:0003551 | Difficulty climbing stairs |
| HP:0007010 | Poor fine motor coordination |
| HP:0010830 | Impaired tactile sensation |
| HP:0006886 | Impaired distal vibration sensation |
| HP:0003438 | Absent Achilles reflex |
