Details of Disease

General Information of Disease (ID: DISPSGSK)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Synonyms Walker-Warburg syndrome or muscle-eye brain disease, Dag1-related; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9; MDDGA9
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISPSGSK: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
Disease Identifiers
MONDO ID
MONDO_0014683
UMLS CUI
C4225291
OMIM ID
616538
MedGen ID
902513

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DAG1 TT4X7PG Strong Biomarker [1]
DAG1 TT4X7PG Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
DAG1 OT6QBA05 Definitive Autosomal recessive [2]
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References

1 Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.Lancet. 2015 Apr 4;385(9975):1305-14. doi: 10.1016/S0140-6736(14)61705-0. Epub 2014 Dec 17.
2 A dystroglycan mutation associated with limb-girdle muscular dystrophy. N Engl J Med. 2011 Mar 10;364(10):939-46. doi: 10.1056/NEJMoa1006939.