Details of Disease

General Information of Disease (ID: DISITWWS)

Disease Name Muscular dystrophy-dystroglycanopathy type B6
Synonyms
muscular dystrophy, congenital, type 1D; muscular dystrophy, congenital, large-related; congenital muscular dystrophy large-related; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 6; congenital muscular dystrophy type 1D; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6; MDDGB6; MDC1D
Definition
A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has material basis in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12.
Disease Hierarchy
DISO11D5: Muscular dystrophy-dystroglycanopathy, type B
DISITWWS: Muscular dystrophy-dystroglycanopathy type B6
Disease Identifiers
MONDO ID
MONDO_0012138
MESH ID
C563844
UMLS CUI
C1837229
OMIM ID
608840
MedGen ID
373284
Orphanet ID
98894

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
LARGE1 OTUH7H9F Definitive Autosomal recessive [1]
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References

1 Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Hum Mol Genet. 2003 Nov 1;12(21):2853-61. doi: 10.1093/hmg/ddg307. Epub 2003 Sep 9.