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Hereditary sensory and autonomic neuropathy type I
disorderSNOMED 397734008CUI C0020071
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Cataract
Always present (100%)HP:0000518
Decreased motor nerve conduction velocity
Always present (100%)HP:0003431
Frequent falls
Always present (100%)HP:0002359
Impaired distal proprioception
Always present (100%)HP:0006858
Neurogenic muscle atrophy, especially in the lower limbs
Always present (100%)HP:0003202
Tongue fasciculations/fibrillations
Always present (100%)HP:0001308
tremors in hands
Always present (100%)HP:0002378
Abnormality of balance
Very frequent (80-99%)HP:0002141
Abnormality of the autonomic nervous system
Very frequent (80-99%)HP:0002270
Decreased amplitude of sensory action potentials
Very frequent (80-99%)HP:0007078
Impaired ability to dress oneself
Very frequent (80-99%)HP:0031060
Loss of distal sensation
Very frequent (80-99%)HP:0002936
Muscle weakness
Very frequent (80-99%)HP:0001324
Absence of pain sensation
Frequent (30-79%)HP:0007021
Epidermal hyperkeratosis
Frequent (30-79%)HP:0000962
Hypohidrosis or hyperhidrosis
Frequent (30-79%)HP:0007550
Impaired distal tactile sensation
Frequent (30-79%)HP:0006937
Impaired thermal sensitivity
Frequent (30-79%)HP:0010829
Inability to heel walk
Frequent (30-79%)HP:0009027
Limb pain
Frequent (30-79%)HP:0009763
Open skin sore
Frequent (30-79%)HP:0200042
Penetrating foot ulcers
Frequent (30-79%)HP:0001026
Poor wound healing
Frequent (30-79%)HP:0001058
Steppage gait
Frequent (30-79%)HP:0003376
Trophic changes
Frequent (30-79%)HP:0010834
Weakness of outermost muscles
Frequent (30-79%)HP:0002460
Bone infection
Occasional (5-29%)HP:0002754
Charcot joint
Occasional (5-29%)HP:0002821
Coughing
Occasional (5-29%)HP:0012735
Deafness
Occasional (5-29%)HP:0000365
Related Conditions
Hereditary sensory and autonomic neuropathy type 1B(child)
Hereditary sensory autonomic neuropathy type ID(child)
Hereditary sensory autonomic neuropathy type IE(child)
Hereditary sensory autonomic neuropathy type IA(child)
Hereditary sensory autonomic neuropathy type IC(child)
Hereditary sensory and autonomic neuropathy(parent)
Quick Facts
- SNOMED CT
- 397734008
- UMLS CUI
- C0020071
- Fully Specified Name
- Hereditary sensory and autonomic neuropathy type I (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.