Charcot-Marie-Tooth disease recessive intermediate C
Findings
No curated finding names Charcot-Marie-Tooth disease recessive intermediate C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
Definition from the Mondo Disease Ontology (MONDO:0014154), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Juvenile onset
HPO, annotations 2026-09-02
Features
12 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
- 6 of 6 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 4 of 4 reported patients
- Decreased number of large peripheral myelinated nerve fibersHPOHP:0003387
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 6 of 6 reported patients
- Distal muscle weaknessHPOHP:0002460
- 6 of 6 reported patients
- Distal sensory impairmentHPO
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.
- PLEKHG5HGNC:29105
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: Charcot-Marie-Tooth disease recessive intermediate C
- Also called
- autosomal recessive intermediate Charcot-Marie-Tooth disease type CCharcot-Marie-Tooth disease caused by mutation in PLEKHG5Charcot-Marie-Tooth disease recessive intermediate type CCharcot-Marie-Tooth disease, recessive Intermediate type CCMTRICPLEKHG5 Charcot-Marie-Tooth diseaseRI-CMT type CRI-CMTC