Details of Disease | DrugMAP

General Information of Disease (ID: DISVW3BL)

Disease Name	Epilepsy, familial adult myoclonic, 5
Synonyms	cortical myoclonic tremor with epilepsy, familial, 5; epilepsy, familial ADULT myoclonic, 5; FAME5; epilepsy, myoclonic, familial adult, 5; epilepsy, familial adult myoclonic, 5; epilepsy, familial adult myoclonic, type 5; epilepsy, familial adult myoclonic caused by mutation in CNTN2; CNTN2 epilepsy, familial adult myoclonic
Definition	Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene.
Disease Hierarchy	DIS900JN: Epilepsy, familial adult myoclonic DISVW3BL: Epilepsy, familial adult myoclonic, 5
Disease Identifiers	MONDO ID MONDO_0014167 UMLS CUI C3809374 OMIM ID 615400 MedGen ID 815704

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CNTN2	TT2Z1WB	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CNTN2	OTQG9W7C	Strong	Autosomal recessive	[1]
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References

1	TAG-1-deficient mice have marked elevation of adenosine A1 receptors in the hippocampus. Biochem Biophys Res Commun. 2001 Feb 16;281(1):220-6. doi: 10.1006/bbrc.2001.4334.