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Charcot-Marie-Tooth disease axonal type 2V
Summary
- Synonym
-
- CMT2V
- Charcot-Marie-Tooth neuropathy type 2V
- autosomal dominant Charcot-Marie-Tooth disease type 2V
- autosomal dominant axonal Charcot-Marie-Tooth disease type 2V
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0110178
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54802 | Alpha-N-acetylglucosaminidase |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003401 | Paresthesia |
| HP:0001324 | Muscle weakness |
| HP:0009830 | Peripheral neuropathy |
| HP:0000639 | Nystagmus |
| HP:0003596 | Middle age onset |
| HP:0011462 | Young adult onset |
| HP:0002495 | Impaired vibratory sensation |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0003584 | Late onset |
| HP:0010871 | Sensory ataxia |
