Details of Disease | DrugMAP

General Information of Disease (ID: DISGKCTZ)

Disease Name	Obsolete congenital muscular dystrophy without intellectual disability
Synonyms	CMD-no MR; congenital muscular dystrophy-dystroglycanopathy without intellectual disability; CMD without intellectual disability
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DISGKCTZ: Obsolete congenital muscular dystrophy without intellectual disability

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CRPPA	OTC85K8Q	Supportive	Autosomal recessive	[1]
FKRP	OTMUZ7GH	Supportive	Autosomal recessive	[2]
FKTN	OTQ9GCXL	Supportive	Autosomal recessive	[2]
POMT1	OTGQSHL5	Supportive	Autosomal recessive	[2]
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References

1	ISPD gene mutations are a common cause of congenital and limb-girdle muscular dystrophies. Brain. 2013 Jan;136(Pt 1):269-81. doi: 10.1093/brain/aws312. Epub 2013 Jan 3.
2	Dystroglycanopathies: coming into focus. Curr Opin Genet Dev. 2011 Jun;21(3):278-85. doi: 10.1016/j.gde.2011.02.001. Epub 2011 Mar 11.