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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
5 OMIM references -
2 associated genes
8 signs/symptoms
Rubinstein-Taybi syndrome due to CREBBP mutations
Benign adult familial myoclonic epilepsy

CREBBP ADRA2B
CNTN2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Rubinstein-Taybi syndrome due to CREBBP mutations
CREBBP
Benign adult familial myoclonic epilepsy
ADRA2B CNTN2



Rubinstein-Taybi syndrome due to CREBBP mutations
Benign adult familial myoclonic epilepsy

Synonym(s):
(no synonyms)

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 bone disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare oncologic disease
- Rare renal disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the nervous system -

Epidemiological data:
(no data available)
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 -
No MeSH references
External references:
5 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


Rubinstein-Taybi syndrome due to CREBBP mutations

(no data available)