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 |
| neurology |
| digestive tract/gastrointestinal |
Type
| disease
|