Details of Disease | DrugMAP

General Information of Disease (ID: DISG4FE5)

Disease Name	Glycosylphosphatidylinositol biosynthesis defect 18
Synonyms	GPIBD18; glycosylphosphatidylinositol biosynthesis defect 18; developmental and epileptic encephalopathy 95
Disease Hierarchy	DISLZR99: Disorder of GPI anchor biosynthesis DISEOA7S: Lipid metabolism disorder DIS400QP: Congenital disorder of glycosylation DISG4FE5: Glycosylphosphatidylinositol biosynthesis defect 18
Disease Identifiers	MONDO ID MONDO_0029140 UMLS CUI C4748357 OMIM ID 618143 MedGen ID 1648478

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
PIGS	OTCC4CEN	Strong	Autosomal recessive	[1]
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References

1	Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy. Am J Hum Genet. 2018 Oct 4;103(4):602-611. doi: 10.1016/j.ajhg.2018.08.014. Epub 2018 Sep 27.