neuropathy, hereditary sensory, type 1F
Findings
No curated finding names neuropathy, hereditary sensory, type 1F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene.
Definition from the Mondo Disease Ontology (MONDO:0014286), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
7 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.
- Sensory axonal neuropathyHPOHP:0003390
- 4 of 4 reported patients
- Hallux valgusHPOHP:0001822
- 6 of 7 reported patients
- Impaired pain sensationHPOHP:0007328
- 6 of 7 reported patients
- HypoesthesiaHPOHP:0033748
- 4 of 5 reported patients
- Metatarsal fractureHPOHP:0041162
- 5 of 7 reported patients
- Neuropathic arthropathyHPOHP:0002821
- 5 of 7 reported patients
- Hyporeflexia of lower limbsHPOHP:0002600
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.
- ATL3HGNC:24526
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Moderate · ClinGen · Autosomal dominant · 2026
Where it sits
Other names
3 names
Resolves to: neuropathy, hereditary sensory, type 1F
- Also called
- ATL3 hereditary sensory and autonomic neuropathy type 1hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3HSN1F