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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:0009027 | Foot dorsiflexor weakness |
| HP:0003236 | Elevated circulating creatine kinase concentration |
| HP:0007328 | Impaired pain sensation |
| HP:0003693 | Distal amyotrophy |
| HP:0003596 | Middle age onset |
| HP:0003431 | Decreased motor nerve conduction velocity |
| HP:0011463 | Childhood onset |
| HP:0006937 | Impaired distal tactile sensation |
| HP:0009005 | Weakness of the intrinsic hand muscles |
| HP:0011462 | Young adult onset |
