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Charcot-Marie-Tooth disease type 2DD
Summary
- Synonym
-
- ATP1A1-related CMT2
- ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2
- CMT2DD
- Charcot-Marie-Tooth disease, axonal, type 2DD
- Charcot-Marie-Tooth neuropathy, type 2DD
- Definition
- A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1.
- Super Class
- Charcot-Marie-Tooth disease type 2 autosomal dominant disease
External Links
- Disease Ontology
- DOID:0111558
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P05023 | Sodium/potassium-transporting ATPase subunit alpha-1 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P13607 | Sodium/potassium-transporting ATPase subunit alpha |
