Details of Disease | DrugMAP

General Information of Disease (ID: DISIGACA)

Disease Name	Obsolete congenital myasthenic syndromes with glycosylation defect
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISIGACA: Obsolete congenital myasthenic syndromes with glycosylation defect

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG14	OTBM7K28	Supportive	Autosomal recessive	[1]
ALG2	OT77B384	Supportive	Autosomal recessive	[1]
DPAGT1	OTYEJAGZ	Supportive	Autosomal recessive	[1]
GFPT1	OTQBDO45	Supportive	Autosomal recessive	[1]
GMPPB	OTJ0CCJ8	Supportive	Autosomal recessive	[2]
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References

1	Congenital myasthenic syndromes due to mutations in ALG2 and ALG14. Brain. 2013 Mar;136(Pt 3):944-56. doi: 10.1093/brain/awt010. Epub 2013 Feb 11.
2	Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies. Brain. 2015 Sep;138(Pt 9):2493-504. doi: 10.1093/brain/awv185. Epub 2015 Jun 30.