Details of Disease

General Information of Disease (ID: DISW7ZEG)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Synonyms
muscular dystrophy, congenital, Pomt1-related; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1; MDDGB1; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 1; congenital muscular dystrophy-POMT1 related
Disease Hierarchy
DISS717V: Myopathy caused by variation in POMT1
DISO11D5: Muscular dystrophy-dystroglycanopathy, type B
DISW7ZEG: Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Disease Identifiers
MONDO ID
MONDO_0013159
UMLS CUI
C5436962
OMIM ID
613155
MedGen ID
1774807

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
POMT1 OTGQSHL5 Strong Autosomal recessive [1]
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References

1 Mutations in the O-mannosyltransferase gene POMT1 give rise to the severe neuronal migration disorder Walker-Warburg syndrome. Am J Hum Genet. 2002 Nov;71(5):1033-43. doi: 10.1086/342975. Epub 2002 Oct 4.