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1 OMIM reference -
6 associated genes
No signs/symptoms info
COMMON GENES: 1
1 OMIM reference -
3 associated genes
2 signs/symptoms
Dravet syndrome
Paroxysmal extreme pain disorder

GABRG2 SCN10A
PCDH19 SCN11A
SCN1A SCN9A
SCN1B
SCN2A
SCN9A


COMMON
GENES
SCN9A



Citations in the biomedical literature:


Dravet syndrome
GABRG2 PCDH19 SCN1A SCN1B SCN2A SCN9A

Paroxysmal extreme pain disorder
SCN10A SCN11A



Dravet syndrome
Paroxysmal extreme pain disorder

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

Synonym(s):
- Familial rectal pain

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

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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

Paroxysmal extreme pain disorder

Very frequent
- Autosomal dominant inheritance

Frequent
- Constipation



Dravet syndrome

(no data available)