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

N. diseases: 64; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0037285
Disease: Skin Manifestations
Skin Manifestations 		0.010 Biomarker phenotype BEFREE Wrinkled skin and fat pads in patients with ALG8-CDG: revisiting skin manifestations in congenital disorders of glycosylation. 24555185 2014
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.050 Biomarker group BEFREE We reviewed the clinical features in all nine previously reported patients diagnosed with ALG8-CDG with a special focus on their skin signs. 24555185 2014
CUI: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.310 Biomarker disease BEFREE These mutations, together with the newly identified ones in SEC61B and Alpha-1,3-Glucosyltransferase (ALG8), can be found in ∼50% of patients with isolated polycystic liver disease. 30652979 2019
CUI: C4255088
Disease: Isolated polycystic liver disease
Isolated polycystic liver disease 		0.010 Biomarker disease BEFREE These mutations, together with the newly identified ones in SEC61B and Alpha-1,3-Glucosyltransferase (ALG8), can be found in ∼50% of patients with isolated polycystic liver disease. 30652979 2019
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		0.010 GeneticVariation disease BEFREE The genes reported for CDG with NIHF for 15 distinct families include: PMM2 in 47% (7/15), ALG9 in 20% (3/15), ALG8 in 13% (2/15), ALG1 in 7% (1/15), MGAT2 in 7% (1/15), and COG6 7% (1/15). 31420886 2020
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.050 GeneticVariation group BEFREE The genes reported for CDG with NIHF for 15 distinct families include: PMM2 in 47% (7/15), ALG9 in 20% (3/15), ALG8 in 13% (2/15), ALG1 in 7% (1/15), MGAT2 in 7% (1/15), and COG6 7% (1/15). 31420886 2020
CUI: C4317295
Disease: Congenital disorder of glycosylation type 1s
Congenital disorder of glycosylation type 1s 		0.020 Biomarker disease BEFREE The description of the two new ALG8 patients affirms that ALG8-CDG is a severe disease. 30420707 2019
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.050 Biomarker group BEFREE The cas princeps ALG8-CDG patient was reported to have two heterozygous frameshift variants predicted to be without activity. 30420707 2019
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: C0158683
Disease: Polycystic liver disease
Polycystic liver disease 		0.310 Biomarker disease GENOMICS_ENGLAND Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. 30135240 2018
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases 		0.300 Biomarker group GENOMICS_ENGLAND Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. 30135240 2018
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease 		0.300 Biomarker disease GENOMICS_ENGLAND Prevalence Estimates of Polycystic Kidney and Liver Disease by Population Sequencing. 30135240 2018
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: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.050 Biomarker group BEFREE Of 15 ALG8-CDG patients, three were homozygous and 12 compound heterozygous. 26066342 2015
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 Biomarker disease GENOMICS_ENGLAND Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review. 31420886 2020
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
Congenital Disorders of Glycosylation 		0.050 GeneticVariation group BEFREE Impaired function of the enzyme dolichyl pyrophosphate Glc(1)Man(9)GlcNAc(2) alpha-1,3-glucosyltransferase encoded by the ALG8 gene, causes ALG8-CDG (CDG-Ih, OMIM #608104). 22306853 2012
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: C4693472
Disease: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS
POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS 		0.300 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: C0027612
Disease: Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital, Hereditary, and Neonatal Diseases and Abnormalities 		0.010 GeneticVariation group LHGDN Clinical and molecular features of three patients with congenital disorders of glycosylation type Ih (CDG-Ih) (ALG8 deficiency). 15235028 2004
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.300 Biomarker disease PSYGENET Among the cognate genes, six including ALG8, DGKE, GNA12, KLF11, LRPAP1, and MMAB are related to multiple genetic diseases such as depressive disorder and Type-II diabetes. 22348086 2012
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: C0021831
Disease: Intestinal Diseases
Intestinal Diseases 		0.010 GeneticVariation group 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