Details of Disease | DrugMAP

General Information of Disease (ID: DIS459QE)

Disease Name	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Synonyms	MDDGA6; Walker-Warburg syndrome or muscle-eye-brain disease, large-related; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 6
Definition	An autosomal recessive muscular dystrophy caused by mutations in the LARGE gene. It is associated with characteristic brain and eye malformations, profound mental retardation, and death usually in the first years of life.
Disease Hierarchy	DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A DISJUOQB: Muscle-eye-brain disease DIS459QE: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Disease Identifiers	MONDO ID MONDO_0013158 UMLS CUI C3150414 OMIM ID 613154 MedGen ID 461764

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LARGE1	OTUH7H9F	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.