Details of Disease

General Information of Disease (ID: DISZMV14)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Synonyms Walker-Warburg syndrome or muscle-eye-brain disease, B3Gnt1-related; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13; MDDGA13
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISZMV14: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Disease Identifiers
MONDO ID
MONDO_0014120
UMLS CUI
C3809042
OMIM ID
615287
MedGen ID
815372

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
B3GNT2 OTE69HV8 Moderate Autosomal recessive [1]
B4GAT1 OT5NH9TD Strong Autosomal recessive [2]
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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.
2 Missense mutations in -1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome. Hum Mol Genet. 2013 May 1;22(9):1746-54. doi: 10.1093/hmg/ddt021. Epub 2013 Jan 28.