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1 OMIM reference -
6 associated genes
No signs/symptoms info
COMMON GENES: 1
1 associated gene
11 signs/symptoms
Dravet syndrome
Erythromelalgia

GABRG2 SCN9A
PCDH19
SCN1A
SCN1B
SCN2A
SCN9A


COMMON
GENES
SCN9A



Citations in the biomedical literature:


Dravet syndrome
GABRG2 PCDH19 SCN1A SCN1B SCN2A SCN9A

Erythromelalgia



Dravet syndrome
Erythromelalgia

Synonym(s):
- SMEI
- Severe myoclonic epilepsy of infancy

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
1 MeSH reference: D004916

Erythromelalgia

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


Dravet syndrome

(no data available)