Charcot-Marie-Tooth disease type 1C
Findings
No curated finding names Charcot-Marie-Tooth disease type 1C yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.
Definition from the Mondo Disease Ontology (MONDO:0010995), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset
HPO, annotations 2026-09-02
Features
11 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.
- Decreased distal sensory nerve action potentialHPOHP:0007230
- 2 of 2 reported patients
- Decreased motor nerve conduction velocityHPOHP:0003431
- 2 of 2 reported patients
- Decreased nerve conduction velocityHPOHP:0000762
- 2 of 2 reported patients
- Gait ataxiaHPOHP:0002066
- 2 of 2 reported patients
- HypoesthesiaHPOHP:0033748
- 2 of 2 reported patients
- PolyneuropathyHPOHP:0001271
- 2 of 2 reported patients
- Sensorimotor neuropathyHPO
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.
- LITAFHGNC:16841
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: Charcot-Marie-Tooth disease type 1C
- Also called
- Charcot-Marie-Tooth disease type 1 caused by mutation in LITAFCharcot-Marie-Tooth disease, type 1CCMT1CHMSN1CLITAF Charcot-Marie-Tooth disease type 1