Details of Disease | DrugMAP

General Information of Disease (ID: DIS7IMDC)

Disease Name	Glycosylphosphatidylinositol biosynthesis defect 21
Synonyms	Neurodevelopmental Disorder With Brain Anomalies, Seizures, and Scoliosis; GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 21; GPIBD21
Disease Hierarchy	DISYKSRF: Genetic disease DIS7IMDC: Glycosylphosphatidylinositol biosynthesis defect 21
Disease Identifiers	MONDO ID MONDO_0032824 UMLS CUI C5231419 OMIM ID 618590 MedGen ID 1684749

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
PIGU	TT2LHI6	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PIGU	OT15CSR0	Strong	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	Mutations in GPAA1, Encoding a GPI Transamidase Complex Protein, Cause Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia. Am J Hum Genet. 2017 Nov 2;101(5):856-865. doi: 10.1016/j.ajhg.2017.09.020.