Charcot-Marie-Tooth disease type 1B
MONDO:0007307Mondo
Findings
No curated finding names Charcot-Marie-Tooth disease type 1B yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
18 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.
- Decreased motor nerve conduction velocityHPOHP:0003431
- 20 of 20 reported patients
- Distal muscle weaknessHPOHP:0002460
- 20 of 20 reported patients
- Distal sensory impairmentHPOHP:0002936
- 20 of 20 reported patients
- Pes cavusHPOHP:0001761
- 20 of 20 reported patients
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Abnormal pupil morphologyHPOHP:0000615
- Frequent (30% to 79% of cases)
- AreflexiaHPOHP:0001284
- Frequent (30% to 79% of cases)
- Decreased nerve conduction velocityHPOHP:0000762
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Increased CSF protein concentrationHPOHP:0002922
- Frequent (30% to 79% of cases)
- Peripheral axonal neuropathyHPOHP:0003477
- Frequent (30% to 79% of cases)
Show the remaining 6
- Peripheral dysmyelinationHPOHP:0003469
- Frequent (30% to 79% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Skeletal muscle atrophyHPOHP:0003202
- Frequent (30% to 79% of cases)
- Skeletal muscle hypertrophyHPOHP:0003712
- Frequent (30% to 79% of cases)
- Motor delayHPOHP:0001270
- Occasional (5% to 29% of cases)
- Somatic sensory dysfunctionHPOHP:0003474
- Occasional (5% to 29% 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.
- MPZHGNC:7225
- Definitive · Laboratory for Molecular Medicine · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: Charcot-Marie-Tooth disease type 1B
- Also called
- Charcot-Marie-Tooth disease type 1 caused by mutation in MPZCharcot-Marie-Tooth disease, type 1BCMT1BHMSN IBHMSN1BMPZ Charcot-Marie-Tooth disease type 1