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congenital muscular dystrophy-dystroglycanopathy type A9

Synonym

MDDGA9
Walker-Warburg syndrome or muscle-eye-brain disease DAG1-related
congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9

Definition

A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31.

Super Class

congenital muscular dystrophy-dystroglycanopathy type A

Disease Ontology

DOID:0111232

Mondo Disease Ontology

OMIM

Related Genes

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
1605	DAG1	dystroglycan 1	DisGeNET Alliance of Genome Resources

Displaying 1 entry
Gene ID	Gene Symbol	Description	Source
36773	Dg	Dystroglycan	Alliance of Genome Resources

Related Glycoprotein

Displaying 1 entry
UniProt ID	Protein Name	Source
Q14118	Dystroglycan 1	DisGeNET

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HPO ID	HPO Term
HP:0002126	Polymicrogyria
HP:0010864	Intellectual disability, severe
HP:0001320	Cerebellar vermis hypoplasia
HP:0002421	Poor head control
HP:0000556	Retinal dystrophy
HP:0007361	Abnormal pons morphology
HP:0002079	Hypoplasia of the corpus callosum
HP:0011197	EEG with focal spike waves
HP:0002363	Abnormal brainstem morphology
HP:0000518	Cataract

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Gene ID	Gene Symbol	Description
1605	DAG1	dystroglycan 1
10329	RXYLT1	ribitol xylosyltransferase 1
10585	POMT1	protein O-mannosyltransferase 1
11041	B4GAT1	beta-1,4-glucuronyltransferase 1
148789	B3GALNT2	beta-1,3-N-acetylgalactosaminyltransferase 2
2218	FKTN	fukutin
29954	POMT2	protein O-mannosyltransferase 2
55624	POMGNT1	protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
729920	CRPPA	CDP-L-ribitol pyrophosphorylase A
79147	FKRP	fukutin related protein