Charcot-Marie-Tooth disease type 2B1
Findings
No curated finding names Charcot-Marie-Tooth disease type 2B1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Charcot-Marie-Tooth disease, type 2B1 (CMT2B1, also referred to as CMT4C1) is an axonal CMT peripheral sensorimotor polyneuropathy.
Definition from the Mondo Disease Ontology (MONDO:0011569), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
32 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 degenerationHPOHP:0040078
- Very frequent (80% to 99% of cases)
- Axonal lossHPOHP:0003447
- Very frequent (80% to 99% of cases)
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- Very frequent (80% to 99% of cases)
- Decreased number of peripheral myelinated nerve fibersHPOHP:0003380
- Very frequent (80% to 99% of cases)
- Distal lower limb muscle weaknessHPOHP:0009053
- Very frequent (80% to 99% of cases)
- Distal sensory impairmentHPOHP:0002936
- Very frequent (80% to 99% of cases)
Show the remaining 20
- Distal amyotrophyHPOHP:0003693
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Distal upper limb amyotrophyHPOHP:0007149
- Frequent (30% to 79% of cases)
- Distal upper limb muscle weaknessHPOHP:0008959
- Frequent (30% to 79% of cases)
- HammertoeHPOHP:0001765
- Frequent (30% to 79% of cases)
- Hand muscle atrophyHPOHP:0009130
- 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.
- LMNAHGNC:6636
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2019
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2022
Where it sits
Other names
7 names
Resolves to: Charcot-Marie-Tooth disease type 2B1
- Also called
- AR-CMT2B1autosomal recessive axonal CMT4C1autosomal recessive Charcot-Marie-Tooth disease type 2B1Charcot-Marie-Tooth disease type 2 caused by mutation in LMNACharcot-Marie-Tooth disease, type 2B1CMT2B1LMNA Charcot-Marie-Tooth disease type 2