ODCs

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1 OMIM reference -
1 associated gene
12 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

5 OMIM references -
2 associated genes
8 signs/symptoms

MASA syndrome

Benign adult familial myoclonic epilepsy

L1CAM	(UniProt - OMIM)		ADRA2B	(UniProt - OMIM)
			CNTN2	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	L1CAM	(0.75)	CNTN2

Citations in the biomedical literature:

MASA syndrome		Benign adult familial myoclonic epilepsy
	Synonym(s): - Intellectual defici-aphasia-shuffling gait-adducted thumbs syndrome		Synonym(s): - ADCME - Autosomal dominant cortical myoclonus and epilepsy - BAFME - FAME - FCMTE - Familial adult myoclonic epilepsy - Familial cortical myoclonic tremor and epilepsy

	Classification (Orphanet): - Rare developmental defect during embryogenesis - 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: unknown Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536029		External references: 5 OMIM references - No MeSH references


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

MASA syndrome		Benign adult familial myoclonic epilepsy
	Very frequent - Abnormal gait - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypereflexia - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - X-linked recessive inheritance Frequent - Camptodactyly of fingers - Clinodactyly of fifth finger Occasional - Corpus callosum / septum pellucidum total / partial agenesis - Dilated cerebral ventricles without hydrocephaly		Very frequent - Autosomal dominant inheritance - EEG anomalies - Myoclonus / fasciculations - Tremor Frequent - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Facial pain / cephalalgia / migraine - Transient amaurosis / acute visual trouble