KEGG   DISEASE: Congenital disorder of glycosylation with defective fucosylation
Entry
H02451                      Disease                                
Name
Congenital disorder of glycosylation with defective fucosylation
Description
Congenital disorder of glycosylation with defective fucosylation (CDGF) is a rare inherited metabolic disorder due to abnormalities in fucosylation, which is an enzymatic process of incorporating L-fucose into the N- and O-glycans of proteins or glycolipids. Fucosylation requires both the generation of the donor substrate GDP-fucose and the presence of a set of fucosyltransferases.
Category
Inherited metabolic disorder
Brite
Human diseases in ICD-11 classification [BR:br08403]
 05 Endocrine, nutritional or metabolic diseases
  Metabolic disorders
   Inborn errors of metabolism
    5C54  Inborn errors of glycosylation or other specified protein modification
     H02451  Congenital disorder of glycosylation with defective fucosylation
Pathway
hsa00051  Fructose and mannose metabolism
hsa00510  N-Glycan biosynthesis
Gene
(CDGF1) FUT8 [HSA:2530] [KO:K00717]
(CDGF2) FCSK [HSA:197258] [KO:K05305]
Other DBs
ICD-11: 5C54.Y
MeSH: D018981
OMIM: 618005 618324
Reference
PMID:29304374 (CDGF1)
  Authors
Ng BG, Xu G, Chandy N, Steyermark J, Shinde DN, Radtke K, Raymond K, Lebrilla CB, AlAsmari A, Suchy SF, Powis Z, Faqeih EA, Berry SA, Kronn DF, Freeze HH
  Title
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
  Journal
Am J Hum Genet 102:188-195 (2018)
DOI:10.1016/j.ajhg.2017.12.009
Reference
PMID:30503518 (CDGF2)
  Authors
Ng BG, Rosenfeld JA, Emrick L, Jain M, Burrage LC, Lee B, Craigen WJ, Bearden DR, Graham BH, Freeze HH
  Title
Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.
  Journal
Am J Hum Genet 103:1030-1037 (2018)
DOI:10.1016/j.ajhg.2018.10.021
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