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References OMIM Gene GeneReviews HGMD HGNC
last update : 14-12-2013
Symbol HSAN7
Location 3p22.2
Name hereditary sensory and autonomic neuropathy, type VII
Other name(s) Episodic pain syndrome, familial, 3
Corresponding gene SCN11A
Other symbol(s) EAP3
Main clinical features
  • congenital inability to experience pain since birth resulting in self-mutilations, slow-healing wounds, and multiple painless fractures
  • mild muscle weakness and delayed motor development, but muscle biopsy and electromyography (EMG) were normal
  • hyperhidrosis and gastrointestinal dysfunction necessitating temporary parenteral nutrition, suggesting autonomic involvement
  • Genetic determination autosomal dominant
    Related entries including EAP3, Episodic pain syndrome, familial, 3 (PMID: 615552) with onset in early childhood of episodic pain localized primarily to the distal lower extremities and occasionally in the upper body, especially in the joints of fingers and arms; episodic pain appeared late in the day and occurred in cycles
    Function/system disorder dermatology
    digestive tract/gastrointestinal
    Type disease
  • the mutation resulted in a gain of function with a left-shift in resting membrane potential and channel activation and a decrease in the kinetics of channel deactivation (PMID: 24207120))