neuropathy, hereditary sensory, type 1D
Findings
No curated finding names neuropathy, hereditary sensory, type 1D yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A hereditary sensory and autonomic neuropathy type 1 characterized by adult onset of a distal axonal sensory neuropathy that has material basis in heterozygous mutation in the ATL1 gene on chromosome 14q.
Definition from the Mondo Disease Ontology (MONDO:0013381), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Progressive · Young adult onset
HPO, annotations 2026-09-02
Features
11 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.
- Autoamputation of digitsHPOHP:0007460
- Distal lower limb amyotrophyHPOHP:0008944
- Distal sensory impairmentHPOHP:0002936
- Distal sensory impairment of all modalitiesHPOHP:0003409
- HyperreflexiaHPOHP:0001347
- Nail dystrophyHPOHP:0008404
- OsteomyelitisHPOHP:0002754
- ParesthesiaHPOHP:0003401
- Peripheral axonal neuropathyHPOHP:0003477
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.
- ATL1HGNC:11231
- Definitive · ClinGen · Autosomal dominant · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
Other names
1 name
Resolves to: neuropathy, hereditary sensory, type 1D
- Also called
- HSN1D