Details of Disease

General Information of Disease (ID: DIS2G9YJ)

Disease Name Developmental and epileptic encephalopathy, 46
Synonyms
developmental and epileptic encephalopathy 46; EIEE46; DEE46; early infantile epileptic encephalopathy caused by mutation in GRIN2D; epileptic encephalopathy, early infantile, type 46; epileptic encephalopathy, early infantile, 46; EIEE46; GRIN2D early infantile epileptic encephalopathy; epileptic encephalopathy, early infantile, 46
Definition Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene.
Disease Hierarchy
DISISEI2: Undetermined early-onset epileptic encephalopathy
DIS8837Y: Neonatal-onset developmental and epileptic encephalopathy
DISZOCA3: Epileptic encephalopathy
DIS2G9YJ: Developmental and epileptic encephalopathy, 46
Disease Identifiers
MONDO ID
MONDO_0014947
UMLS CUI
C4310687
OMIM ID
617162
MedGen ID
934654

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
GRIN2D TT5POTG Strong Autosomal dominant [1]
GRIN2D TT5POTG Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
GRIN2D OTTEKYKQ Strong Autosomal dominant [1]
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References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 GRIN2D variants in three cases of developmental and epileptic encephalopathy.Clin Genet. 2018 Dec;94(6):538-547. doi: 10.1111/cge.13454.