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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.'
Features include always present findings: Poor wound healing, Pain insensitivity, Motor delay, and Muscle weakness. 9 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Digestive system | 2 | Diarrhea, Constipation |
Skin | 2 | Excessive sweating (hyperhidrosis), Pruritus |
Brain and nerves | 1 | Problems with involuntary body functions (abnormal autonomic nervous system physiology) |
Muscles | 1 | Muscle weakness |
SCN11A function has not been fully characterized.
Hereditary sensory and autonomic neuropathy type 7 is associated with mutations in the SCN11A gene on chromosome 3.
Genetic testing for SCN11A is available. Testing is considered confirmatory for diagnosis.
Phenotype severity distribution: 4 always present features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for hereditary sensory and autonomic neuropathy type 7.
11 publications have been identified in PubMed for hereditary sensory and autonomic neuropathy type 7. Research spans Case Report / Case Series (55%), Basic Science / Preclinical (18%), and Review / Meta-Analysis (9%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 6 | 55% |
Laboratory research | 2 | 18% |
Research summaries | 1 | 9% |
Clinical study results | 1 | 9% |
Disease patterns and progression | 1 | 9% |
Bar-Aluma BE (2025). [PMID: 40555858](https://pubmed.ncbi.nlm.nih.gov/40555858/). *Calcif Tissue Int*. [Epidemiology / Natural History]
Kjellberg A (2025). [PMID: 39789590](https://pubmed.ncbi.nlm.nih.gov/39789590/). *J Med Case Rep*. [Case Report / Case Series]
Ahmad R (2025). [PMID: 40938507](https://pubmed.ncbi.nlm.nih.gov/40938507/). *Neurol Sci*. [Case Report / Case Series]
Fu X (2025). [PMID: 40849231](https://pubmed.ncbi.nlm.nih.gov/40849231/). *J Neuromuscul Dis*. [Basic Science / Preclinical]
Zhu Y (2025). [PMID: 40296002](https://pubmed.ncbi.nlm.nih.gov/40296002/). *Orphanet J Rare Dis*. [Case Report / Case Series]
Cashman CR (2025). [PMID: 40400204](https://pubmed.ncbi.nlm.nih.gov/40400204/). *Ann Clin Transl Neurol*. [Basic Science / Preclinical]
Higashimoto T (2024). [PMID: 39465509](https://pubmed.ncbi.nlm.nih.gov/39465509/). *Mol Genet Genomic Med*. [Case Report / Case Series]
Naghinejad M (2024). [PMID: 39441469](https://pubmed.ncbi.nlm.nih.gov/39441469/). *J Mol Neurosci*. [Case Report / Case Series]
Sarveswaran N (2024). [PMID: 38591490](https://pubmed.ncbi.nlm.nih.gov/38591490/). *Br J Dermatol*. [Case Report / Case Series]
Drăghici M (2024). [PMID: 39768907](https://pubmed.ncbi.nlm.nih.gov/39768907/). *Medicina (Kaunas)*. [Clinical Trial Publication]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center