Charcot-Marie-Tooth disease type 2T
Findings
No curated finding names Charcot-Marie-Tooth disease type 2T yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25.
Definition from the Mondo Disease Ontology (MONDO:0044640), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Middle age onset · Slowly progressive · Late young adult onset
HPO, annotations 2026-09-02
Features
7 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 lower limb amyotrophyHPOHP:0008944
- 10 of 10 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 10 of 10 reported patients
- Distal sensory impairmentHPOHP:0002936
- 10 of 10 reported patients
- HyporeflexiaHPOHP:0001265
- 10 of 10 reported patients
- Unsteady gaitHPOHP:0002317
- 10 of 10 reported patients
- DementiaHPOHP:0000726
- 0 of 10 reported patients
- Sensorimotor neuropathyHPO
Genes
2 genes
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.
- MMEHGNC:7154
- Definitive · Ambry Genetics · Semidominant · 2022
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Semidominant · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- DNAJB2HGNC:5228
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease type 2T
- Also called
- AR-CMT2Tautosomal recessive axonal Charcot-Marie-Tooth disease type 2TCharcot-Marie-Tooth disease, axonal, type 2TCMT2T