hereditary sensory and autonomic neuropathy type 6
Findings
No curated finding names hereditary sensory and autonomic neuropathy type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene.
Definition from the Mondo Disease Ontology (MONDO:0013839), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
37 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.
- Flexion contractureHPOHP:0001371
- 3 of 3 reported patients
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 3 of 3 reported patients
- ApneaHPOHP:0002104
- 2 of 3 reported patients
- Blotching pigmentation of the skinHPOHP:0007610
- 2 of 3 reported patients
- BradycardiaHPOHP:0001662
- 2 of 3 reported patients
- Breech presentationHPOHP:0001623
Show the remaining 25
- Profound global developmental delayHPOHP:0012736
- 2 of 4 reported patients
- Absent corneal reflexHPOHP:0034252
- 1 of 3 reported patients
- AlacrimaHPOHP:0000522
- 1 of 3 reported patients
- AreflexiaHPOHP:0001284
- 1 of 3 reported patients
- AspirationHPOHP:0002835
- 1 of 3 reported patients
- Bilateral vocal cord paresisHPOHP:0012822
- 1 of 3 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.
- DSTHGNC:1090
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: hereditary sensory and autonomic neuropathy type 6
- Also called
- DST hereditary sensory and autonomic neuropathyfamilial dysautonomia with contractureshereditary sensory and autonomic neuropathy caused by mutation in DSThereditary sensory and autonomic neuropathy type VIHSAN6