Charcot-Marie-Tooth disease type 2Y
Findings
No curated finding names Charcot-Marie-Tooth disease type 2Y yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Charcot-Marie-Tooth disease type 2 in which the cause of the disease is a mutation in the VCP gene.
Definition from the Mondo Disease Ontology (MONDO:0014735), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
46 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.
- Absent Achilles reflexHPOHP:0003438
- 5 of 5 reported patients
- Frequent (30% to 79% of cases)
- Decreased motor nerve conduction velocityHPOHP:0003431
- 5 of 5 reported patients
- Impaired distal tactile sensationHPOHP:0006937
- 5 of 5 reported patients
- Impaired distal vibration sensationHPOHP:0006886
- 5 of 5 reported patients
- Occasional (5% to 29% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- 4 of 5 reported patients
- Occasional (5% to 29% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- 4 of 5 reported patients
Show the remaining 34
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Distal sensory impairmentHPOHP:0002936
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Gait imbalanceHPOHP:0002141
- Frequent (30% to 79% of cases)
- Hand muscle atrophyHPOHP:0009130
- Frequent (30% to 79% 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.
- VCPHGNC:12666
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2020
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
7 names
Resolves to: Charcot-Marie-Tooth disease type 2Y
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutationCharcot-Marie-Tooth disease type 2 caused by mutation in VCPCharcot-Marie-Tooth disease, axonal, type 2yCharcot-Marie-Tooth disease, type 2YCMT2 due to VCP mutationCMT2YVCP Charcot-Marie-Tooth disease type 2