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Muscular dystrophy-dystroglycanopathy
Muscular dystrophy-dystroglycanopathy
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Subtype of:
Muscular dystrophy
Include the contents of this disease's 1 subtype
in the table below
Show the subtype
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a8
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Pathways column key:
KEGG
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Disease terms
Disease ID
Gene Symbol
Classification
References
Source
Pathways
muscular dystrophy-dystroglycanopathy
MONDO_0014071
MONDO_0014140
B3GALNT2
Causal
23453667
Open Targets
Mannose type O-glycan biosynthesis
Metabolic pathways
O-linked glycosylation
muscular dystrophy-dystroglycanopathy
MONDO_0014071
MONDO_0014140
GMPPB
Causal
23768512
24780531
25681410
26133662
27766311
27874200
28433477
28456886
30126629
30684953
31211170
31378432
34333724
34633329
Open Targets
Fructose and mannose metabolism
Amino sugar and nucleotide sugar metabolism
Metabolic pathways
Biosynthesis of cofactors
Biosynthesis of nucleotide sugars
+2 more
muscular dystrophy-dystroglycanopathy
MONDO_0014071
MONDO_0014140
LARGE1
Unknown
—
ClinGen
Mannose type O-glycan biosynthesis
Metabolic pathways
Defective LARGE causes MDDGA6 and MDDGB6
O-linked glycosylation
+1 more
All
3
Causal
2
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
2
Related Diseases
Diseases that share the most curated genes with Muscular dystrophy-dystroglycanopathy.
5
View disease cluster →
Congenital muscular dystrophy due to dystroglycanopathy
3 shared genes
GMPPB, LARGE1, B3GALNT2
Related via 3 shared genes including GMPPB, LARGE1, B3GALNT2.
Myopathy caused by variation in GMPPB
1 shared gene
GMPPB
Related via 1 shared gene including GMPPB.
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b6
1 shared gene
LARGE1
Related via 1 shared gene including LARGE1.
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a6
1 shared gene
LARGE1
Related via 1 shared gene including LARGE1.
Congenital muscular dystrophies
1 shared gene
B3GALNT2
Related via 1 shared gene including B3GALNT2.
1
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