hereditary sensory and autonomic neuropathy type 7
Findings
No curated finding names hereditary sensory and autonomic neuropathy type 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive, painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'
Definition from the Mondo Disease Ontology (MONDO:0014244), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
4 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.
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- Muscle weaknessHPOHP:0001324
- 2 of 2 reported patients
- Pain insensitivityHPOHP:0007021
- 2 of 2 reported patients
- Poor wound healingHPOHP:0001058
- 2 of 2 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.
- SCN11AHGNC:10583
- Definitive · ClinGen · Autosomal dominant · 2026
- Definitive · G2P · Autosomal dominant · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
10 names
Resolves to: hereditary sensory and autonomic neuropathy type 7
- Also called
- autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11ACIP with hyperhidrosis and gastrointestinal dysfunctioncongenital insensitivity to pain with gastrointestinal dysfunctioncongenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunctionhereditary sensory and autonomic neuropathy type VIIhereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunctionHSAN with hyperhidrosis and gastrointestinal dysfunctionHSAN7SCN11A autosomal dominant hereditary sensory and autonomic neuropathySCN11A-CIP