Charcot-Marie-tooth disease, axonal, type 2DD: genes and variants
Charcot-Marie-tooth disease, axonal, type 2DD is linked to 1 analyzed protein (ATP1A1). 6 DNA variants are known to cause it; 10 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Charcot-Marie-tooth disease, axonal, type 2DD
ATP1A1: Sodium/potassium-transporting ATPase subunit alpha-1
It maintains sodium and potassium gradients that underlie membrane potential, secondary transport, and cell-volume control in most tissues. Germline pathogenic variants can cause neurologic or electrolyte disorders, while somatic adrenal variants can drive primary aldosteronism.
6 disease-causing and 10 uncertain variants in ATP1A1 are linked to Charcot-Marie-tooth disease, axonal, type 2DD.
Where Charcot-Marie-tooth disease, axonal, type 2DD variants cluster
- ATP1A1 Cytoplasmic (positions 343–772): 4 of 6 disease-causing changes, 1.6× more than its size predicts.
Known disease-causing variants in Charcot-Marie-tooth disease, axonal, type 2DD
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATP1A1 P600A | 600 | Mediates interaction with SCN7A | Disease-causing (★★) |
| ATP1A1 I592T | 592 | Cytoplasmic | Disease-causing (★★) |
| ATP1A1 L844P | 844 | Cytoplasmic | Disease-causing (★★) |
| ATP1A1 P600R | 600 | Mediates interaction with SCN7A | Disease-causing (★) |
| ATP1A1 E334G | 334 | Transmembrane | Disease-causing |
| ATP1A1 G549R | 549 | Cytoplasmic | Disease-causing |
Same protein, different disease
- Hypomagnesemia, seizures, and intellectual disability 2 is also caused by ATP1A1 variants; they fall mostly in different places as the Charcot-Marie-tooth disease, axonal, type 2DD variants (6 disease-causing).
Diseases related to Charcot-Marie-tooth disease, axonal, type 2DD
- Hypomagnesemia, seizures, and intellectual disability 2, also linked to ATP1A1
Frequently asked questions
Which genes are linked to Charcot-Marie-tooth disease, axonal, type 2DD?
In CATVariant, Charcot-Marie-tooth disease, axonal, type 2DD is linked to 1 analyzed protein: ATP1A1 (Sodium/potassium-transporting ATPase subunit alpha-1).
How many genetic variants are linked to Charcot-Marie-tooth disease, axonal, type 2DD?
21 variants: 6 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 10 are of uncertain significance or have conflicting reports.
Which uncertain variants in Charcot-Marie-tooth disease, axonal, type 2DD look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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