Charcot-Marie-tooth disease, axonal, type 2JJ
MONDO:0976227Mondo
Findings
No curated finding names Charcot-Marie-tooth disease, axonal, type 2JJ yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Young adult onset
HPO, annotations 2026-09-02
Features
30 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.
- Achilles tendon contractureHPOHP:0001771
- 1 of 1 reported patient
- Areflexia of lower limbsHPOHP:0002522
- 1 of 1 reported patient
- Areflexia of upper limbsHPOHP:0012046
- 1 of 1 reported patient
- Decreased nerve conduction velocityHPOHP:0000762
- 5 of 5 reported patients
- Decreased sensory nerve conduction velocityHPOHP:0003448
- 2 of 2 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 2 of 2 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 2 of 2 reported patients
- Fatty replacement of skeletal muscleHPOHP:0012548
- 2 of 2 reported patients
- Gait disturbanceHPOHP:0001288
- 2 of 2 reported patients
- Hip flexor weaknessHPOHP:0012515
- 1 of 1 reported patient
- Impaired distal tactile sensationHPOHP:0006937
- 6 of 6 reported patients
- Impaired pain sensationHPOHP:0007328
- 2 of 2 reported patients
Show the remaining 18
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- 7 of 7 reported patients
- Peripheral neuropathyHPOHP:0009830
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 2 of 2 reported patients
- Decreased compound muscle action potential amplitudeHPOHP:0033383
- 6 of 7 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 5 of 7 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 2 reported patients
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.
- BAG3HGNC:939
- Limited · Ambry Genetics · Autosomal dominant · 2025
Where it sits
- A kind of