Charcot-Marie-Tooth disease axonal type 2V
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2V yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the NAGLU gene.
Definition from the Mondo Disease Ontology (MONDO:0014665), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
10 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.
- Lower limb painHPOHP:0012514
- 20 of 20 reported patients
- Sleep disturbanceHPOHP:0002360
- 16 of 19 reported patients
- Impaired vibratory sensationHPOHP:0002495
- 12 of 21 reported patients
- HyporeflexiaHPOHP:0001265
- 10 of 21 reported patients
- Sensory ataxiaHPOHP:0010871
- 9 of 21 reported patients
- Muscle weaknessHPOHP:0001324
- 0 of 21 reported patients
- NystagmusHPOHP:0000639
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.
- NAGLUHGNC:7632
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2V
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutationautosomal dominant Charcot-Marie-Tooth disease type 2VCharcot-Marie-Tooth disease caused by mutation in NAGLUCMT2Vhereditary adult-onset painful axonal polyneuropathyNAGLU Charcot-Marie-Tooth disease