Details of Disease

General Information of Disease (ID: DISD5A6W)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Synonyms Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related; muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14; MDDGA14; muscle-eye-brain-GMPPB related
Disease Hierarchy
DISZTBC4: Muscular dystrophy-dystroglycanopathy, type A
DISJUOQB: Muscle-eye-brain disease
DIS42PW9: Myopathy caused by variation in GMPPB
DISD5A6W: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
Disease Identifiers
MONDO ID
MONDO_0014140
UMLS CUI
C3809216
OMIM ID
615350
MedGen ID
815546

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
GMPPB OTJ0CCJ8 Definitive Autosomal recessive [1]
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References

1 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of -dystroglycan. Am J Hum Genet. 2013 Jul 11;93(1):29-41. doi: 10.1016/j.ajhg.2013.05.009. Epub 2013 Jun 13.