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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:0003376 | Steppage gait |
| HP:0008959 | Distal upper limb muscle weakness |
| HP:0003701 | Proximal muscle weakness |
| HP:0002938 | Lumbar hyperlordosis |
| HP:0006389 | Limited knee flexion |
| HP:0008997 | Proximal muscle weakness in upper limbs |
| HP:0003401 | Paresthesia |
| HP:0009130 | Hand muscle atrophy |
| HP:0003691 | Scapular winging |
| HP:0007141 | Sensorimotor neuropathy |
