Charcot-Marie-Tooth disease, axonal, type 2EE
MONDO:0032728Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, axonal, type 2EE yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
9 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.
- Peripheral axonal neuropathyHPOHP:0003477
- 10 of 11 reported patients
- Hepatic steatosisHPOHP:0001397
- 4 of 11 reported patients
- Decreased distal sensory nerve action potentialHPOHP:0007230
- Distal amyotrophyHPOHP:0003693
- Distal muscle weaknessHPOHP:0002460
- Young adult onset
- EMG: chronic denervation signsHPOHP:0003444
- Impaired distal tactile sensationHPOHP:0006937
- Mildly elevated creatine kinaseHPOHP:0008180
- Ulnar clawHPOHP:0001178
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.
- MPV17HGNC:7224
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of