Charcot-Marie-Tooth disease type 3
MONDO:0007790Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
16 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.
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Broad-based gaitHPOHP:0002136
- 1 of 1 reported patient
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Decreased sensory nerve conduction velocityHPOHP:0003448
- 1 of 1 reported patient
- Distal lower limb muscle weaknessHPOHP:0009053
- 1 of 1 reported patient
- Impaired distal vibration sensationHPOHP:0006886
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- Myelin tomaculaHPOHP:0030175
- 1 of 1 reported patient
- Onion bulb formationHPOHP:0003383
- 1 of 1 reported patient
- Peripheral demyelinationHPOHP:0011096
- 1 of 1 reported patient
- Pes planusHPOHP:0001763
- 1 of 1 reported patient
- Proximal muscle weaknessHPOHP:0003701
- 1 of 1 reported patient
Show the remaining 4
- ScoliosisHPOHP:0002650
- 1 of 1 reported patient
- Segmental peripheral demyelination/remyelinationHPOHP:0003481
- 1 of 1 reported patient
- Sensory ataxiaHPOHP:0010871
- 1 of 1 reported patient
- Tongue fasciculationsHPOHP:0001308
- 1 of 1 reported patient
Genes
4 genes
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.
- PMP22HGNC:9118
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- EGR2HGNC:3239
- Moderate · Ambry Genetics · Semidominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
- PRXHGNC:13797
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- MPZHGNC:7225
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
11 names
Resolves to: Charcot-Marie-Tooth disease type 3
- Also called
- Charcot-Marie-Tooth disease, type 3CMT3dejerine-sottas diseaseDejerine-Sottas neuropathyDejerine-Sottas Syndromehereditary motor and sensory neuropathy type 3hereditary motor and sensory neuropathy type IIIHMSN 3HMSN IIIHMSN3hypertrophic neuropathy of Dejerine-Sottas