Charcot-Marie-Tooth disease type 4J
Findings
No curated finding names Charcot-Marie-Tooth disease type 4J yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically heterogeneous group of CMT peripheral sensorimotor polyneuropathy diseases.
Definition from the Mondo Disease Ontology (MONDO:0012640), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
6 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.
- Axonal lossHPOHP:0003447
- Decreased nerve conduction velocityHPOHP:0000762
- Distal arthrogryposisHPOHP:0005684
- Distal muscle weaknessHPOHP:0002460
- HyporeflexiaHPOHP:0001265
- Peripheral hypomyelinationHPOHP:0007182
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.
- FIG4HGNC:16873
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
3 names
Resolves to: Charcot-Marie-Tooth disease type 4J
- Also called
- Charcot-Marie-Tooth disease type 4 caused by mutation in FIG4CMT4JFIG4 Charcot-Marie-Tooth disease type 4