Details of Disease | DrugMAP

General Information of Disease (ID: DISJY2DN)

Disease Name	Developmental and epileptic encephalopathy, 3
Synonyms	epileptic encephalopathy, early infantile, 3; DEE3; epileptic encephalopathy, early infantile, type 3; SLC25A22 early infantile epileptic encephalopathy; developmental and epileptic encephalopathy 3; EIEE3; early infantile epileptic encephalopathy caused by mutation in SLC25A22
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene.
Disease Hierarchy	DIS1YXVQ: Early myoclonic encephalopathy DISZOCA3: Epileptic encephalopathy DISJY2DN: Developmental and epileptic encephalopathy, 3
Disease Identifiers	MONDO ID MONDO_0012245 MESH ID C562695 UMLS CUI C5574665 OMIM ID 609304 MedGen ID 1801135

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A22	DTJCWP8	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
SLC25A22	OTQGVI1N	Strong	Autosomal recessive	[1]
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References

1	Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.