Details of Disease

General Information of Disease (ID: DIS3HJ60)

Disease Name Congenital disorder of glycosylation with defective fucosylation 1
Synonyms CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 1; Cdgf; CDGF1
Disease Hierarchy
DIS5PFT2: Congenital disorder of glycosylation with defective fucosylation
DIS3HJ60: Congenital disorder of glycosylation with defective fucosylation 1

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
FUT8 OTJJCVG1 Strong Autosomal recessive [1]
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References

1 Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation. Am J Hum Genet. 2018 Jan 4;102(1):188-195. doi: 10.1016/j.ajhg.2017.12.009.