Details of Disease

General Information of Disease (ID: DISSP7OL)

Disease Name Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Synonyms
MDDGB3; muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B, 3; muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3; muscular dystrophy, congenital, POMGNT1-related; congenital muscular dystrophy-POMGNT1 related
Disease Hierarchy
DISO11D5: Muscular dystrophy-dystroglycanopathy, type B
DIS0B8FY: Myopathy caused by variation in POMGNT1
DISSP7OL: Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
Disease Identifiers
MONDO ID
MONDO_0013155
UMLS CUI
C3150412
OMIM ID
613151
MedGen ID
461762

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
B4GAT1 OT5NH9TD Strong Biomarker [1]
FKRP OTMUZ7GH Strong Biomarker [2]
FKTN OTQ9GCXL Strong Biomarker [3]
LARGE1 OTUH7H9F Strong Biomarker [4]
POMGNT1 OTBNOUZC Definitive Autosomal recessive [5]
------------------------------------------------------------------------------------

References

1 Dystroglycan organizes axon guidance cue localization and axonal pathfinding.Neuron. 2012 Dec 6;76(5):931-44. doi: 10.1016/j.neuron.2012.10.009.
2 Degree of Cajal-Retzius Cell Mislocalization Correlates with the Severity of Structural Brain Defects in Mouse Models of Dystroglycanopathy.Brain Pathol. 2016 Jul;26(4):465-78. doi: 10.1111/bpa.12306. Epub 2015 Oct 12.
3 Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.Hum Mol Genet. 2009 Feb 15;18(4):621-31. doi: 10.1093/hmg/ddn387. Epub 2008 Nov 18.
4 Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases.Mol Cell Neurosci. 2005 Oct;30(2):160-72. doi: 10.1016/j.mcn.2005.07.009.
5 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007 Oct;130(Pt 10):2725-35. doi: 10.1093/brain/awm212. Epub 2007 Sep 18.