Details of Disease | DrugMAP

General Information of Disease (ID: DIS1LYUH)

Disease Name	Developmental and epileptic encephalopathy, 49
Synonyms	DENND5A early infantile epileptic encephalopathy; developmental and epileptic encephalopathy 49; epileptic encephalopathy, early infantile, 49; EIEE49; EIEE49; early infantile epileptic encephalopathy caused by mutation in DENND5A; epileptic encephalopathy, early infantile, type 49; DEE49; epileptic encephalopathy, early infantile, 49
Definition	Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene.
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DIS1LYUH: Developmental and epileptic encephalopathy, 49
Disease Identifiers	MONDO ID MONDO_0015002 UMLS CUI C4310635 OMIM ID 617281 MedGen ID 934602

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
DENND5A	OT0QNNY1	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.