Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

disorder

SNOMED 722294004CUI C4302667

Overview

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent deep tendon reflexes

Always present (100%)HP:0001284

Axonal loss

Always present (100%)HP:0003447

Distal upper limb amyotrophy

Always present (100%)HP:0007149

Lower limb muscle hypotrophy

Always present (100%)HP:0008944

Neuropathy

Always present (100%)HP:0009830

Onion bulb formation

Always present (100%)HP:0003383

Proteinuria

Always present (100%)HP:0000093

Weakness of outermost muscles

Always present (100%)HP:0002460

End-stage renal disease

Very frequent (80-99%)HP:0003774

Elevated serum creatine phosphokinase

Frequent (30-79%)HP:0003236

Sensorineural deafness

Frequent (30-79%)HP:0000407

Cavus foot

HP:0001761

Claw hand deformity

HP:0034337

Focal and segmental glomerulosclerosis

HP:0000097

Hammertoe

HP:0001765

Hyporeflexia

HP:0001265

Inability to heel walk

HP:0009027

Loss of distal sensation

HP:0002936

Steppage gait

HP:0003376

Related Conditions

Autosomal dominant hereditary disorder(parent)

Hereditary motor and sensory neuropathy(parent)

Hereditary nephropathy(parent)

Genetic disease of glomerulus(parent)

Quick Facts

SNOMED CT: 722294004
UMLS CUI: C4302667
Fully Specified Name: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 19

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.