Charcot-Marie-Tooth disease axonal type 2X
Findings
No curated finding names Charcot-Marie-Tooth disease axonal type 2X 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 SPG11 gene.
Definition from the Mondo Disease Ontology (MONDO:0014726), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Slowly progressive · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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 muscle weaknessHPOHP:0009053
- 29 of 29 reported patients
- Pes cavusHPOHP:0001761
- 23 of 29 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 20 of 29 reported patients
- Gait disturbanceHPOHP:0001288
- 18 of 29 reported patients
- KyphoscoliosisHPOHP:0002751
- 17 of 29 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 16 of 29 reported patients
- Ankle flexion contractureHPO
Show the remaining 10
- Proximal lower limb muscle weaknessHPOHP:0008994
- 4 of 29 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 29 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 29 reported patients
- Wrist flexion contractureHPOHP:0001239
- 3 of 29 reported patients
- Babinski signHPOHP:0003487
- 2 of 29 reported patients
- Proximal lower limb amyotrophyHPOHP:0008956
- 1 of 29 reported patients
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.
- SPG11HGNC:11226
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease axonal type 2X
- Also called
- ARCMT2Xautosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutationCharcot-Marie-Tooth disease caused by mutation in SPG11Charcot-Marie-Tooth disease, axonal, type 2xCMT2XSPG11 Charcot-Marie-Tooth disease