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5 OMIM references -
2 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Benign adult familial myoclonic epilepsy
Acute myeloid leukemia with t(8;16)(p11;p13) translocation

ADRA2B CREBBP
CNTN2 KAT6A


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CNTN2
(0.78)
CREBBP



Citations in the biomedical literature:


Benign adult familial myoclonic epilepsy
ADRA2B CNTN2
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
CREBBP KAT6A



Benign adult familial myoclonic epilepsy
Acute myeloid leukemia with t(8;16)(p11;p13) translocation

Synonym(s):
- ADCME
- Autosomal dominant cortical myoclonus and epilepsy
- BAFME
- FAME
- FCMTE
- Familial adult myoclonic epilepsy
- Familial cortical myoclonic tremor and epilepsy

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: variable
Average age of death: elderly
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)

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

Benign adult familial myoclonic epilepsy

Very frequent
- Autosomal dominant inheritance
- 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


Acute myeloid leukemia with t(8;16)(p11;p13) translocation

(no data available)