Details of Disease | DrugMAP

General Information of Disease (ID: DISADPHL)

Disease Name	Developmental and epileptic encephalopathy, 55
Synonyms	infantile epileptic encephalopathy 55; glycosylphosphatidylinositol biosynthesis defect 14; EIEE55; DEE55; developmental and epileptic encephalopathy 55; epileptic encephalopathy, early infantile, 55
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 DISADPHL: Developmental and epileptic encephalopathy, 55
Disease Identifiers	MONDO ID MONDO_0033364 UMLS CUI C4539843 OMIM ID 617599 MedGen ID 1622363

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
PIGP	OTGYAH4X	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. Ann Clin Transl Neurol. 2019 Apr 11;6(5):968-973. doi: 10.1002/acn3.768. eCollection 2019 May.