Details of Disease | DrugMAP

General Information of Disease (ID: DISB74OL)

Disease Name	Developmental and epileptic encephalopathy, 71
Synonyms	Glutaminase Deficiency With Neonatal Epileptic Encephalopathy; neonatal epileptic encephalopathy due to glutaminase deficiency; DEE71; EIEE71; developmental and epileptic encephalopathy 71; epileptic encephalopathy, early infantile, 71
Disease Hierarchy	DISZQNR0: Glutaminase deficiency DISZOCA3: Epileptic encephalopathy DISB74OL: Developmental and epileptic encephalopathy, 71
Disease Identifiers	MONDO ID MONDO_0032678 UMLS CUI C5193030 OMIM ID 618328 MedGen ID 1680812 SNOMED CT ID 1222662000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GLS	DE3E0VT	Limited	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
GLS	OTGOZG2M	Limited	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.