Details of Disease | DrugMAP

General Information of Disease (ID: DIS32JMY)

Disease Name	Developmental and epileptic encephalopathy, 51
Synonyms	early infantile epileptic encephalopathy caused by mutation in MDH2; epileptic encephalopathy, early infantile, 51; DEE51; MDH2 early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, type 51; developmental and epileptic encephalopathy 51; epileptic encephalopathy, early infantile, 51; EIEE51; EIEE51
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene.
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DIS32JMY: Developmental and epileptic encephalopathy, 51
Disease Identifiers	MONDO ID MONDO_0015025 UMLS CUI C4479208 OMIM ID 617339 MedGen ID 1372686

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MDH2	OT7364GY	Strong	Autosomal recessive	[1]
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References

1	Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy. Am J Hum Genet. 2017 Jan 5;100(1):151-159. doi: 10.1016/j.ajhg.2016.11.014. Epub 2016 Dec 15.