ODCs

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5 OMIM references -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
2 associated genes
10 signs/symptoms

Benign adult familial myoclonic epilepsy

Autosomal dominant optic atrophy plus syndrome

ADRA2B	(UniProt - OMIM)		MFN2	(UniProt - OMIM)
CNTN2	(UniProt - OMIM)		OPA1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CNTN2	(0.63)	OPA1

Citations in the biomedical literature:

Benign adult familial myoclonic epilepsy		Autosomal dominant optic atrophy plus syndrome
	Synonym(s): - ADCME - Autosomal dominant cortical myoclonus and epilepsy - BAFME - FAME - FCMTE - Familial adult myoclonic epilepsy - Familial cortical myoclonic tremor and epilepsy		Synonym(s): - DOA+ - Optic atrophy - deafness- polyneuropathy - myopathy

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Diseases of the ear and mastoid process -

	Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: elderly Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 5 OMIM references - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance

Benign adult familial myoclonic epilepsy		Autosomal dominant optic atrophy plus syndrome
	Very frequent - EEG anomalies - Myoclonus / fasciculations - Tremor Frequent - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Facial pain / cephalalgia / migraine - Intellectual deficit / mental / psychomotor retardation / learning disability - Transient amaurosis / acute visual trouble		Very frequent - Insensitivity to pain - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Sensorineural deafness / hearing loss Frequent - Achromatopsia / dyschromatopsia / daltonism / impaired colour vision - Areflexia / hyporeflexia - Mild visual loss / impaired visual acuity Occasional - Abnormal VEP / Visual evoked potential - Nerve conduction abnormality - Strabismus / squint