Details of Disease | DrugMAP

General Information of Disease (ID: DISWHF75)

Disease Name	Congenital muscular dystrophy with intellectual disability
Synonyms	CMD-MR; CMD with intellectual disability
Disease Hierarchy	DISFT3J3: Muscular dystrophy-dystroglycanopathy DIS400QP: Congenital disorder of glycosylation DISWHF75: Congenital muscular dystrophy with intellectual disability
Disease Identifiers	MONDO ID MONDO_0018278 UMLS CUI C5190846 MedGen ID 1683413 Orphanet ID 370968 SNOMED CT ID 783174004

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
FKRP	OTMUZ7GH	Supportive	Autosomal recessive	[1]
GMPPB	OTJ0CCJ8	Supportive	Autosomal recessive	[2]
LARGE1	OTUH7H9F	Supportive	Autosomal recessive	[1]
POMT1	OTGQSHL5	Supportive	Autosomal recessive	[1]
POMT2	OTO1ZQZX	Supportive	Autosomal recessive	[1]
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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.