hereditary sensory and autonomic neuropathy type 1
Findings
No curated finding names hereditary sensory and autonomic neuropathy type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterized by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.
Definition from the Mondo Disease Ontology (MONDO:0018213), read 2026-09-29. CC BY 4.0.
Features
29 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.
- Abnormality of the autonomic nervous systemHPOHP:0002270
- Very frequent (80% to 99% of cases)
- Decreased amplitude of sensory action potentialsHPOHP:0007078
- Very frequent (80% to 99% of cases)
- Distal sensory impairmentHPOHP:0002936
- Very frequent (80% to 99% of cases)
- Gait imbalanceHPOHP:0002141
- Very frequent (80% to 99% of cases)
- Impaired ability to dress oneselfHPOHP:0031060
- Very frequent (80% to 99% of cases)
- Muscle weaknessHPOHP:0001324
- Very frequent (80% to 99% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- Foot dorsiflexor weaknessHPOHP:0009027
- Frequent (30% to 79% of cases)
- HyperkeratosisHPOHP:0000962
- Frequent (30% to 79% of cases)
- Hypohidrosis or hyperhidrosisHPOHP:0007550
- Frequent (30% to 79% of cases)
- Impaired distal tactile sensationHPOHP:0006937
- Frequent (30% to 79% of cases)
- Impaired temperature sensationHPOHP:0010829
- Frequent (30% to 79% of cases)
Show the remaining 17
- Limb painHPOHP:0009763
- Frequent (30% to 79% of cases)
- Pain insensitivityHPOHP:0007021
- Frequent (30% to 79% of cases)
- Penetrating foot ulcersHPOHP:0001026
- Frequent (30% to 79% of cases)
- Poor wound healingHPOHP:0001058
- Frequent (30% to 79% of cases)
- Skin ulcerHPOHP:0200042
- Frequent (30% to 79% of cases)
- Steppage gaitHPOHP:0003376
- Frequent (30% to 79% of cases)
Genes
4 genes
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.
Where it sits
- A kind of
- Narrower terms (6)
- cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
- hereditary sensory neuropathy-deafness-dementia syndrome
- neuropathy, hereditary sensory and autonomic, type 1A
- neuropathy, hereditary sensory and autonomic, type 1C
- neuropathy, hereditary sensory, type 1D
- neuropathy, hereditary sensory, type 1F
Other names
3 names
Resolves to: hereditary sensory and autonomic neuropathy type 1
- Also called
- hereditary sensory and autonomic neuropathy type IHereditary Sensory Neuropathy Type IHSAN1