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Benign essential blepharospasm

1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1

Dravet syndrome

1 OMIM reference -
6 associated genes
No signs/symptoms info

Benign essential blepharospasm

Dravet syndrome

DRD5	(UniProt - OMIM)		GABRG2	(UniProt - OMIM)
			PCDH19	(UniProt - OMIM)
			SCN1A	(UniProt - OMIM)
			SCN1B	(UniProt - OMIM)
			SCN2A	(UniProt - OMIM)
			SCN9A	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	DRD5	(0.79)	GABRG2

Citations in the biomedical literature:

Benign essential blepharospasm		Dravet syndrome
	Synonym(s): - Primary blepharospasm		Synonym(s): - SMEI - Severe myoclonic epilepsy of infancy

	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): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: - Type of inheritance: unknown		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

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

Benign essential blepharospasm
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Anomalies of eyes and vision - Dystonia / torticollis / writer's cramp / blepharospasms - Movement disorder - Muscle anomalies Frequent - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Photophobia - Xerophthalmia / dry eyes Occasional - Autosomal dominant inheritance - Contractures / cramps / trismus / tetania / claudication / opisthotonos - Tremor - Visual loss / blindness / amblyopia
Dravet syndrome
(no data available)