Charcot-Marie-Tooth disease, demyelinating, type 1J
MONDO:0859311Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease, demyelinating, type 1J 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 · Childhood onset
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.
- Areflexia of lower limbsHPOHP:0002522
- 1 of 1 reported patient
- Distal sensory impairmentHPOHP:0002936
- 5 of 5 reported patients
- Gait disturbanceHPOHP:0001288
- 4 of 4 reported patients
- Peripheral neuropathyHPOHP:0009830
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 4 of 4 reported patients
- Distal muscle weaknessHPOHP:0002460
- 4 of 5 reported patients
- HammertoeHPOHP:0001765
- 3 of 4 reported patients
- Thenar muscle atrophyHPOHP:0003393
- 1 of 4 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
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.
- ITPR3HGNC:6182
- Definitive · Ambry Genetics · Autosomal dominant · 2025
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
Where it sits
- A kind of