Details of Disease

General Information of Disease (ID: DISTNH1Q)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Synonyms
MDDGA11; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11; Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-related; B3GALNT2 muscular dystrophy-dystroglycanopathy, type A; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11; muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2
Definition Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene.
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISJUOQB: Muscle-eye-brain disease
DISTNH1Q: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Disease Identifiers
MONDO ID
MONDO_0014071
UMLS CUI
C3554638
OMIM ID
615181
MedGen ID
767552

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
B3GALNT2 OTOF6O2B 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.