Charcot-Marie-Tooth disease dominant intermediate C
Findings
No curated finding names Charcot-Marie-Tooth disease dominant intermediate C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibers, segmental remyelination, and no onion bulbs.
Definition from the Mondo Disease Ontology (MONDO:0012012), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Intermediate young adult onset
HPO, annotations 2026-09-02
Features
10 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
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Decreased sensory nerve conduction velocityHPOHP:0003448
- 1 of 1 reported patient
- Difficulty runningHPOHP:0009046
- 1 of 1 reported patient
- Distal amyotrophyHPOHP:0003693
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
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.
- YARS1HGNC:12840
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
7 names
Resolves to: Charcot-Marie-Tooth disease dominant intermediate C
- Also called
- autosomal dominant intermediate Charcot-Marie-Tooth disease type CCharcot-Marie-Tooth disease caused by mutation in YARSCharcot-Marie-Tooth disease dominant intermediate type CCharcot-Marie-Tooth disease, dominant Intermediate type CCMTDICDI-CMTCYARS Charcot-Marie-Tooth disease