Charcot-Marie-Tooth disease axonal type 2U
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2U 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 2U (CMT2U) is a subtype of autosonal dominant Charcot-Marie-Tooth disease type 2 characterized by late adult-onset (50-60 years of age) of slowly progressive, axonal, peripheral sensorimotor neuropathy resulting in distal upper limb and proximal and distal lower limb muscle weakness and atrophy, in conjunction with distal, panmodal sensory impairment in upper and lower limbs. Tendon reflexes are reduced and nerve conduction velocities range from reduced to absent. Neuropathic pain has also been associated.
Definition from the Mondo Disease Ontology (MONDO:0014566), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Late onset · Middle age onset · Slowly progressive
HPO, annotations 2026-09-02
Features
8 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 amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- Distal sensory impairmentHPOHP:0002936
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 3 of 3 reported patients
- Hand muscle atrophyHPOHP:0009130
- 2 of 2 reported patients
- Peripheral axonal neuropathyHPOHP:0003477
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.
- MARS1HGNC:6898
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Limited · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2U
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutationautosomal dominant Charcot-Marie-Tooth disease type 2UCharcot-Marie-Tooth disease type 2 caused by mutation in MARSCMT2UMARS Charcot-Marie-Tooth disease type 2