Details of Disease | DrugMAP

General Information of Disease (ID: DISCY7U3)

Disease Name	Developmental and epileptic encephalopathy, 84
Synonyms	Jamuar Syndrome; epileptic encephalopathy, early infantile, 84; UGDH-Related Disorder; DEE84; developmental and epileptic encephalopathy 84; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 84; EIEE84
Disease Hierarchy	DISZOCA3: Epileptic encephalopathy DISCY7U3: Developmental and epileptic encephalopathy, 84
Disease Identifiers	MONDO ID MONDO_0032918 UMLS CUI C5394081 OMIM ID 618792 MedGen ID 1720141

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
UGDH	OTZS0T6O	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
UGDH	DE48Q2Z	Strong	Autosomal recessive	[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.