autosomal dominant Charcot-Marie-Tooth disease type 2W
Findings
No curated finding names autosomal dominant Charcot-Marie-Tooth disease type 2W 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 HARS gene.
Definition from the Mondo Disease Ontology (MONDO:0014711), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
24 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.
- Demyelinating peripheral neuropathyHPOHP:0007108
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Very frequent (80% to 99% of cases)
- Impaired vibration sensation in the lower limbsHPOHP:0002166
- Very frequent (80% to 99% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
- Very frequent (80% to 99% of cases)
- Abnormal foot morphologyHPOHP:0001760
- Frequent (30% to 79% of cases)
Show the remaining 12
- HammertoeHPOHP:0001765
- Occasional (5% to 29% of cases)
- Hand muscle weaknessHPOHP:0030237
- Occasional (5% to 29% of cases)
- Impaired distal tactile sensationHPOHP:0006937
- Occasional (5% to 29% of cases)
- Impaired pain sensationHPOHP:0007328
- Occasional (5% to 29% of cases)
- Intrinsic hand muscle atrophyHPOHP:0008954
- Occasional (5% to 29% of cases)
- PainHPOHP:0012531
- Occasional (5% to 29% 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.
- HARS1HGNC:4816
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: autosomal dominant Charcot-Marie-Tooth disease type 2W
- Also called
- autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutationCharcot-Marie-Tooth disease type 2 caused by mutation in HARSCharcot-Marie-Tooth disease, axonal, type 2wCMT2WHARS Charcot-Marie-Tooth disease type 2