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Erythromelalgia
1 associated gene
7 connected diseases
11 signs/symptoms
Disease Type of connection
Channelopathy-associated congenital insensitivity to pain
Dravet syndrome
Generalized epilepsy with febrile seizures-plus context
Hereditary sensory and autonomic neuropathy type 2
Paroxysmal extreme pain disorder
Primary erythermalgia
Sodium channelopathy-related small fiber neuropathy
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease

Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
External references:
No OMIM references
1 MeSH reference: D004916

Gene symbol UniProt reference OMIM reference
SCN9A Q15858603415
Very frequent
- Autosomal dominant inheritance
- Erythema / erythematous lesions / erythroderma / polymorphous erythema
- Peripheral neuropathy

Frequent
- Pruritus / itching

Occasional
- Acute ischemia of the lower limbs
- Acute ischemic syndrome
- Hypothermia
- Myeloproliferative syndrome / chronic leukemia
- Platelet disorders / thrombopathies
- Repeat respiratory infections
- Vascularitis / vasculitides / arteritis