Details of Disease | DrugMAP

General Information of Disease (ID: DISA3YC0)

Disease Name	Developmental and epileptic encephalopathy, 80
Synonyms	Glycosylphosphatidylinositol Biosynthesis Defect 20; epileptic encephalopathy, early infantile, 80; DEE80; developmental and epileptic encephalopathy 80; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80; EIEE80
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISLZR99: Disorder of GPI anchor biosynthesis DISEOA7S: Lipid metabolism disorder DIS400QP: Congenital disorder of glycosylation DISZOCA3: Epileptic encephalopathy DISA3YC0: Developmental and epileptic encephalopathy, 80
Disease Identifiers	MONDO ID MONDO_0032822 UMLS CUI C5231418 OMIM ID 618580 MedGen ID 1684779

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
PIGB	OTD96AQX	Strong	Autosomal recessive	[1]
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References

1	Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27.