Charcot-Marie-Tooth disease axonal type 2S
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2S yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Charcot-Marie-Tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene.
Definition from the Mondo Disease Ontology (MONDO:0014511), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Childhood onset
HPO, annotations 2026-09-02
Features
15 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.
- Lower limb muscle weaknessHPOHP:0007340
- 15 of 15 reported patients
- Upper limb muscle weaknessHPOHP:0003484
- 15 of 15 reported patients
- Areflexia of lower limbsHPOHP:0002522
- 12 of 14 reported patients
- Areflexia of upper limbsHPOHP:0012046
- 10 of 14 reported patients
- Proximal muscle weaknessHPOHP:0003701
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- Talipes equinovarusHPO
Show the remaining 3
- HyporeflexiaHPOHP:0001265
- Sensorimotor neuropathyHPOHP:0007141
- Steppage gaitHPOHP:0003376
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.
- IGHMBP2HGNC:5542
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2S
- Also called
- Charcot-Marie-Tooth disease caused by mutation in IGHMBP2Charcot-Marie-Tooth disease type 2SCMT2SIGHMBP2 Charcot-Marie-Tooth disease