Details of Disease | DrugMAP

General Information of Disease (ID: DISJ0IOD)

Disease Name	Developmental and epileptic encephalopathy, 35
Synonyms	EIEE35; epileptic encephalopathy, early infantile, 35; developmental and epileptic encephalopathy 35; ITPA-related encephalopathy; epileptic encephalopathy, early infantile, type 35; DEE35
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DISPN7D2: Inherited neurodegenerative disorder DISZOCA3: Epileptic encephalopathy DISJ0IOD: Developmental and epileptic encephalopathy, 35
Disease Identifiers	MONDO ID MONDO_0014719 UMLS CUI C4225256 OMIM ID 616647 MedGen ID 904159 Orphanet ID 457375 SNOMED CT ID 1208747005

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
ITPA	OTQ47WVR	Strong	Autosomal recessive	[1]
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References

1	Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6. Ther Drug Monit. 2007 Feb;29(1):6-10. doi: 10.1097/FTD.0b013e3180308554.