Details of Disease | DrugMAP

General Information of Disease (ID: DIS9R1LS)

Disease Name	Developmental and epileptic encephalopathy, 77
Synonyms	glycosylphosphatidylinositol biosynthesis defect 19; EIEE77; multiple congenital anomalies-hypotonia-seizures syndrome 4; DEE77; epileptic encephalopathy, early infantile, 77
Disease Hierarchy	DIS37ALI: Multiple congenital anomalies-hypotonia-seizures syndrome DIS2BIP8: Congenital nervous system disorder DISMFQKM: Developmental anomaly of metabolic origin DISLZR99: Disorder of GPI anchor biosynthesis DISEOA7S: Lipid metabolism disorder DIS400QP: Congenital disorder of glycosylation DISZOCA3: Epileptic encephalopathy DIS9R1LS: Developmental and epileptic encephalopathy, 77
Disease Identifiers	MONDO ID MONDO_0032808 UMLS CUI C5231405 OMIM ID 618548 MedGen ID 1684735

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
PIGQ	OTOD93DQ	Strong	Autosomal recessive	[1]
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References

1	Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25.