Details of Disease | DrugMAP

General Information of Disease (ID: DIS8CGS1)

Disease Name	Obsolete congenital muscular dystrophy with cerebellar involvement
Synonyms	CMD-CRB; CMD with cerebellar involvement
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS8CGS1: Obsolete congenital muscular dystrophy with cerebellar involvement

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FKRP	OTMUZ7GH	Supportive	Autosomal recessive	[1]
GMPPB	OTJ0CCJ8	Supportive	Autosomal recessive	[2]
POMGNT1	OTBNOUZC	Supportive	Autosomal recessive	[1]
POMK	OT36HLDO	Supportive	Autosomal recessive	[3]
POMT1	OTGQSHL5	Supportive	Autosomal recessive	[1]
POMT2	OTO1ZQZX	Supportive	Autosomal recessive	[1]
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⏷ Show the Full List of 6 DOT(s)

References

1	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.
2	Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of -dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.
3	POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations. Hum Mol Genet. 2014 Nov 1;23(21):5781-92. doi: 10.1093/hmg/ddu296. Epub 2014 Jun 11.