Charcot-Marie-Tooth disease axonal type 2N
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2N yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow.
Definition from the Mondo Disease Ontology (MONDO:0013212), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Distal muscle weaknessHPOHP:0002460
- 15 of 15 reported patients
- Distal sensory impairmentHPOHP:0002936
- 17 of 22 reported patients
- Absent Achilles reflexHPOHP:0003438
- 4 of 7 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 4 of 7 reported patients
- Lower limb muscle weaknessHPOHP:0007340
- 4 of 7 reported patients
- HyporeflexiaHPOHP:0001265
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AARS1HGNC:20
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2N
- Also called
- AARS Charcot-Marie-Tooth disease type 2autosomal dominant Charcot-Marie-Tooth disease type 2NCharcot-Marie-Tooth disease type 2 caused by mutation in AARSCMT2N