Details of Disease

General Information of Disease (ID: DISEVPN9)

Disease Name Developmental and epileptic encephalopathy, 82
Synonyms
Got2 Deficiency; Glutamate Oxaloacetate Transaminase, Mitochondrial, Deficiency of; EIEE82; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 82; DEE82; developmental and epileptic encephalopathy 82; epileptic encephalopathy, early infantile, 82
Disease Hierarchy
DISZOCA3: Epileptic encephalopathy
DISEVPN9: Developmental and epileptic encephalopathy, 82
Disease Identifiers
MONDO ID
MONDO_0032880
UMLS CUI
C5231473
OMIM ID
618721
MedGen ID
1684694

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
GOT2 OT6XBWN0 Strong Autosomal recessive [1]
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References

1 Targeted Exome Sequencing of Krebs Cycle Genes Reveals Candidate Cancer-Predisposing Mutations in Pheochromocytomas and Paragangliomas. Clin Cancer Res. 2017 Oct 15;23(20):6315-6324. doi: 10.1158/1078-0432.CCR-16-2250. Epub 2017 Jul 18.