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Paroxysmal extreme pain disorder
1 OMIM reference -
3 associated genes
11 connected diseases
2 signs/symptoms
Disease Type of connection
Channelopathy-associated congenital insensitivity to pain
Primary erythermalgia
Sodium channelopathy-related small fiber neuropathy
Dravet syndrome
Erythromelalgia
Familial episodic pain syndrome with predominantly lower limb involvement
Generalized epilepsy with febrile seizures-plus context
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 7
Baraitser-Winter syndrome
Developmental malformations - deafness - dystonia
Synonym(s):
- Familial rectal pain
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
SCN10A Q9Y5Y9604427
SCN11A Q9UI33604385
SCN9A Q15858603415
Very frequent
- Autosomal dominant inheritance

Frequent
- Constipation