Details of Disease

General Information of Disease (ID: DIS44I9V)

Disease Name Epilepsy, familial adult myoclonic, 2
Synonyms
cortical myoclonic tremor with epilepsy, familial, 2; benign adult familial myoclonic epilepsy 2; epilepsy, familial ADULT myoclonic, 2; cortical myoclonus and epilepsy, autosomal dominant; FAME2; epilepsy, familial adult myoclonic, type 2; ADRA2B epilepsy, familial adult myoclonic; epilepsy, familial adult myoclonic caused by mutation in ADRA2B; epilepsy, familial adult myoclonic, 2
Definition Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene.
Disease Hierarchy
DIS900JN: Epilepsy, familial adult myoclonic
DIS44I9V: Epilepsy, familial adult myoclonic, 2
Disease Identifiers
MONDO ID
MONDO_0011930
MESH ID
C564313
UMLS CUI
C1842852
OMIM ID
607876
MedGen ID
375031

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ADRA2B TTWM4TY Limited Unknown [1]
ADRA2B TTWM4TY moderate Biomarker [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ADRA2B OTLJKGSE Limited Unknown [1]
STARD7 OTDUZ296 Strong Biomarker [2]
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References

1 The 2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy. Ann Neurol. 2014 Jan;75(1):77-87. doi: 10.1002/ana.24028. Epub 2014 Jan 2.
2 Fractional flow reserve-guided percutaneous coronary intervention vs. medical therapy for patients with stable coronary lesions: meta-analysis of individual patient data.Eur Heart J. 2019 Jan 7;40(2):180-186. doi: 10.1093/eurheartj/ehy812.