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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
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 11928 | Atp1a1 | ATPase, Na+/K+ transporting, alpha 1 polypeptide | |
| 11944 | Atp4a | ATPase, H+/K+ exchanging, gastric, alpha polypeptide | |
| 98660 | Atp1a2 | ATPase, Na+/K+ transporting, alpha 2 polypeptide | |
| 232975 | Atp1a3 | ATPase, Na+/K+ transporting, alpha 3 polypeptide |
