hereditary sensory and autonomic neuropathy type 4
Findings
No curated finding names hereditary sensory and autonomic neuropathy type 4 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary sensory and autonomic neuropathy, type 4 (HSAN4) is an inherited disorder characterized by anhidrosis, insensitivity to pain, self-mutilating behavior and episodes of fever.
Definition from the Mondo Disease Ontology (MONDO:0009746), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
56 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.
- AnhidrosisHPOHP:0000970
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Self-mutilationHPOHP:0000742
- 4 of 4 reported patients
- Very frequent (80% to 99% of cases)
- Abnormality of peripheral nerve conductionHPOHP:0003134
- Very frequent (80% to 99% of cases)
- Aplasia of the sweat glandsHPOHP:0011136
- Very frequent (80% to 99% of cases)
- Impaired temperature sensationHPOHP:0010829
Show the remaining 44
- Atypical scarring of skinHPOHP:0000987
- Frequent (30% to 79% of cases)
- Dry skinHPOHP:0000958
- Frequent (30% to 79% of cases)
- FasciitisHPOHP:0100537
- Frequent (30% to 79% of cases)
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- LichenificationHPOHP:0100725
- Frequent (30% to 79% of cases)
- Nail-bitingHPOHP:0012170
- Frequent (30% to 79% of cases)
Genes
1 gene
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.
- NTRK1HGNC:8031
- Definitive · ClinGen · Autosomal recessive · 2021
- Definitive · G2P · Autosomal recessive · 2017
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
6 names
Resolves to: hereditary sensory and autonomic neuropathy type 4
- Also called
- congenital insensitivity to pain with anhidrosishereditary sensory and autonomic neuropathy caused by mutation in NTRK1Hereditary Sensory and Autonomic Neuropathy Type IVHSAN4insensitivity to pain, congenital, with anhidrosisNTRK1 hereditary sensory and autonomic neuropathy