Overview
Naxos disease 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.
Cardiomyopathy, esp. right ventricular
Always present (100%)HP:0011663
Diffuse palmoplantar hyperkeratosis
Always present (100%)HP:0007447
Epidermal hyperkeratosis
Always present (100%)HP:0000962
Fragile skin
Always present (100%)HP:0001030
Nikolsky's sign
Always present (100%)HP:0100792
Skin bullae
Always present (100%)HP:0008066
Thickened, discoloured skin under nail
Always present (100%)HP:0008392
Thickening of upper layer of skin
Always present (100%)HP:0025092
Abnormal morphology of right ventricular trabeculae
Very frequent (80-99%)HP:0031193
Abnormality of hair volume
Very frequent (80-99%)HP:0010719
Cardiac arrhythmias
Very frequent (80-99%)HP:0011675
Disease of the heart muscle
Very frequent (80-99%)HP:0001638
Dizziness
Very frequent (80-99%)HP:0002321
Episodes of ventricular tachycardia
Very frequent (80-99%)HP:0004751
Keratoderma
Very frequent (80-99%)HP:0000982
Kinky hair texture
Very frequent (80-99%)HP:0002224
Skipped heartbeat
Very frequent (80-99%)HP:0006682
Cardiac insufficiency
Frequent (30-79%)HP:0001635
Cleft of upper lip
Frequent (30-79%)HP:0000204
Curly hair
Frequent (30-79%)HP:0002212
EKG: T-wave inversion
Frequent (30-79%)HP:0010872
Intraventricular conduction delay
Frequent (30-79%)HP:0006677
Sweating
Frequent (30-79%)HP:0000975
Syncope
Frequent (30-79%)HP:0001279
Thinning scalp hair
Frequent (30-79%)HP:0002209
Acanthosis nigricans
Occasional (5-29%)HP:0000956
Skipped heart beat
Occasional (5-29%)HP:0001962
Sudden cardiac death
Occasional (5-29%)HP:0001645
Cardiac anomaly
Excluded (<1%)HP:0001627
Complete right bundle branch block
HP:0011712
Related Conditions
Arrhythmogenic right ventricular dysplasia(parent)
Hereditary palmoplantar keratoderma(parent)
Autosomal recessive familial woolly hair(parent)
Congenital deformity and malformation of feet and toes(parent)
Congenital abnormality of hand and digits(parent)
Congenital anomaly of myocardium(parent)
Congenital right ventricular anomaly(parent)
Quick Facts
- SNOMED CT
- 715535009
- UMLS CUI
- C1832600
- Fully Specified Name
- Keratosis palmoplantaris and arrhythmogenic cardiomyopathy syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
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.