Charcot-Marie-Tooth disease type 4C
Findings
No curated finding names Charcot-Marie-Tooth disease type 4C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0011113), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
56 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.
- Distal muscle weaknessHPOHP:0002460
- 18 of 18 reported patients
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- 18 of 18 reported patients
- Distal amyotrophyHPOHP:0003693
- 15 of 18 reported patients
- Frequent (30% to 79% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Decreased motor nerve conduction velocityHPOHP:0003431
- Very frequent (80% to 99% of cases)
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.
- SH3TC2HGNC:29427
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Charcot-Marie-Tooth disease type 4C
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2CMT4CSH3TC2 Charcot-Marie-Tooth disease type 4