ALG8, ALG8 alpha-1,3-glucosyltransferase, 79053

N. diseases: 64; N. variants: 8
Disease: Congenital disorder of glycosylation type 1H ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease GENOMICS_ENGLAND Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. 31420886 2020
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease BEFREE ALG8-CDG (= CDG-Ih) is one of the less frequently reported types of CDG, maybe due to its severe multi-organ involvement with coagulation disturbances, edema, massive gastrointestinal protein loosing enteropathy, cataracts, and often early death. 26066342 2015
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 GeneticVariation disease BEFREE Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes. 22306853 2012
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease GENOMICS_ENGLAND One of them, ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of glucosyltransferase 2 (Dol-P-Glc:Glc1-Man(9)-GlcNAc(2)-P-P-Dol glucosyltransferase) resulting in inefficient addition of the second glucose residue onto lipid-linked oligosaccharides. 19688606 2009
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease BEFREE One of them, ALG8 deficiency (CDG Ih), leads to protein N-glycosylation defects caused by malfunction of glucosyltransferase 2 (Dol-P-Glc:Glc1-Man(9)-GlcNAc(2)-P-P-Dol glucosyltransferase) resulting in inefficient addition of the second glucose residue onto lipid-linked oligosaccharides. 19688606 2009
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 GeneticVariation disease BEFREE Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih. 19648040 2009
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 GeneticVariation disease UNIPROT Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). 15235028 2004
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease GENOMICS_ENGLAND Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). 15235028 2004
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 CausalMutation disease CLINVAR
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 GeneticVariation disease CLINVAR
CUI: C2931002
Disease: Congenital disorder of glycosylation type 1H
Congenital disorder of glycosylation type 1H 		0.740 Biomarker disease CTD_human