Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Areflexia
Always present (100%)HP:0001284
Cavus foot
Always present (100%)HP:0001761
Decreased motor nerve conduction velocity
Always present (100%)HP:0003431
Distal limb muscle weakness due to peripheral neuropathy
Always present (100%)HP:0002460
Distal muscle atrophy, upper and lower limbs
Always present (100%)HP:0003693
Loss of distal sensation
Always present (100%)HP:0002936
Kyphoscoliosis
Frequent (30-79%)HP:0002751
Peripheral demyelination
Frequent (30-79%)HP:0011096
Cold-induced muscle cramps
HP:0003449
Decreased number of large and small myelinated fibres
HP:0003380
Hammertoe
HP:0001765
Hypertrophic nerve changes
HP:0003382
Hyporeflexia
HP:0001265
Inability to heel walk
HP:0009027
Irregular myelin foldings
HP:0004336
Limb muscle weakness
HP:0003690
Onion bulb formation
HP:0003383
Peripheral neuropathy
HP:0009830
Split hand
HP:0001171
Steppage gait
HP:0003376
Tonic pupil
HP:0012074
Ulnar claw
HP:0001178
Related Conditions
Charcot-Marie-Tooth disease, type IA(child)
Charcot-Marie-Tooth disease, type IC(child)
Charcot-Marie-Tooth disease, type IB(child)
Charcot-Marie-Tooth disease and deafness(child)
Charcot-Marie-Tooth disease type ID(child)
Charcot-Marie-Tooth disease type IF(child)
PMP2-related Charcot-Marie-Tooth disease type 1(child)
Hereditary motor and sensory neuropathy(parent)
Autosomal dominant hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 398040009
- UMLS CUI
- C0751036
- Fully Specified Name
- Charcot-Marie-Tooth disease, type I (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 22
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.