Charcot-Marie-Tooth disease type 1F
Findings
No curated finding names Charcot-Marie-Tooth disease type 1F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..
Definition from the Mondo Disease Ontology (MONDO:0011902), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
60 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.
- Distal amyotrophyHPOHP:0003693
- 8 of 8 reported patients
- Distal muscle weaknessHPOHP:0002460
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Myelin outfoldingsHPOHP:0004336
- 1 of 1 reported patient
- Onion bulb formationHPOHP:0003383
- 1 of 1 reported patient
- Pes cavusHPOHP:0001761
- 9 of 9 reported patients
- 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.
- NEFLHGNC:7739
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease type 1F
- Also called
- Charcot-Marie-Tooth disease type 1 caused by mutation in NEFLCharcot-Marie-Tooth disease, type 1FCMT1FNEFL Charcot-Marie-Tooth disease type 1