neuropathy, hereditary sensory and autonomic, type 1C
Findings
No curated finding names neuropathy, hereditary sensory and autonomic, type 1C 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 that has material basis in heterozygous mutation in the SPTLC2 gene on chromosome 14q24.
Definition from the Mondo Disease Ontology (MONDO:0013337), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Middle age onset · Juvenile onset · Young adult onset · Childhood onset
HPO, annotations 2026-09-02
Features
17 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.
- Decreased motor nerve conduction velocityHPOHP:0003431
- 2 of 2 reported patients
- Distal lower limb muscle weaknessHPOHP:0009053
- 2 of 2 reported patients
- Distal sensory impairmentHPOHP:0002936
- 5 of 5 reported patients
- Distal upper limb muscle weaknessHPOHP:0008959
- 2 of 2 reported patients
- Hyporeflexia of lower limbsHPOHP:0002600
- 2 of 2 reported patients
- Impaired pain sensationHPOHP:0007328
- 2 of 2 reported patients
- Impaired vibration sensation in the lower limbs
Show the remaining 5
- Hand paresthesiaHPOHP:0033660
- 1 of 2 reported patients
- AnhidrosisHPOHP:0000970
- 1 of 5 reported patients
- Autoamputation of digitsHPOHP:0007460
- 1 of 5 reported patients
- Distal sensory impairment of all modalitiesHPOHP:0003409
- 1 of 5 reported patients
- DysesthesiaHPOHP:0012534
- 1 of 5 reported patients
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.
- SPTLC2HGNC:11278
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2022
Where it sits
Other names
1 name
Resolves to: neuropathy, hereditary sensory and autonomic, type 1C
- Also called
- HSAN1C