neuropathy, hereditary sensory and autonomic, type 1A
Findings
No curated finding names neuropathy, hereditary sensory and autonomic, type 1A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1.
Definition from the Mondo Disease Ontology (MONDO:0008086), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
10 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.
- CataractHPOHP:0000518
- 1 of 1 reported patient · Juvenile onset
- Decreased motor nerve conduction velocityHPOHP:0003431
- 1 of 1 reported patient
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- Frequent fallsHPOHP:0002359
- 1 of 1 reported patient
- Hand tremorHPOHP:0002378
- 1 of 1 reported patient
- Impaired distal proprioceptionHPOHP:0006858
- 1 of 1 reported patient
- Impaired distal tactile sensationHPO
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.
- SPTLC1HGNC:11277
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: neuropathy, hereditary sensory and autonomic, type 1A
- Also called
- hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1HSAN1ASPTLC1 hereditary sensory and autonomic neuropathy type 1