Charcot-Marie-Tooth disease type 1D
Findings
No curated finding names Charcot-Marie-Tooth disease type 1D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis.
Definition from the Mondo Disease Ontology (MONDO:0011890), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
4 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.
- Decreased motor nerve conduction velocityHPOHP:0003431
- 3 of 3 reported patients
- Distal muscle weaknessHPOHP:0002460
- 3 of 3 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 1 of 1 reported patient
- Peripheral neuropathyHPOHP:0009830
- 3 of 3 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.
- EGR2HGNC:3239
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease type 1D
- Also called
- Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2Charcot-Marie-Tooth disease, type 1DCMT1DEGR2 Charcot-Marie-Tooth disease type 1hereditary motor and sensory neuropathy 1DHMSN1D