MPI, mannose phosphate isomerase, 4351

N. diseases: 101; N. variants: 34
Disease: Congenital disorder of glycosylation type 1B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease CLINVAR The Role of T1-Weighted Derived Measures of Neurodegeneration for Assessing Disability Progression in Multiple Sclerosis. 28928705 2017
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease CLINVAR GESPA: classifying nsSNPs to predict disease association. 26206375 2015
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease CLINVAR Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption. 24508628 2014
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 CausalMutation disease CLINVAR Asymptomatic phosphomannose isomerase deficiency (MPI-CDG) initially mistaken for excessive alcohol consumption. 24508628 2014
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease CLINVAR Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. 24421398 2014
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 AlteredExpression disease BEFREE Probing for the underlying enzyme defect(s) using cultured skin fibroblasts demonstrated normal activity of phosphomannomutase, whereas the activity of phosphomannose isomerase (MPI) was reduced (0.64 mU/mg protein, reference 2.1-6.9), pointing to CDG of the MPI subtype (formerly called CDG-Ib). 24508628 2014
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 CausalMutation disease CLINVAR Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice. 24421398 2014
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker disease BEFREE Both PMM2 and MPI compete for the same substrate, Man-6-P. Daily mannose doses reverse most of the symptoms of MPI-deficient CDG-Ib patients. 21949237 2011
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease BEFREE 5 patients with CDG Ik are described, and their identification reveals that in France, this disease and CDG Ib (mannose phosphate isomerase deficiency: OMIM 602579) are the most frequently diagnosed CDG I after CDG Ia (phosphomannomutase 2 deficiency: OMIM 601785) and substantiate previous observations indicating that this disease presents at the severe end of the CDG I clinical spectrum. 20679665 2010
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease BEFREE We suggest that in patients with MPI-CDG, intravenous mannose infusion can lead to intracellular ATP deprivation due to several mechanisms: (1) in MPI deficiency, mannose 6-P cannot be isomerised to fructose 6-P and therefore is unavailable for glycolysis; (2) animal data has shown that accumulating intracellular mannose 6-P inhibits glycolysis; and (3) elevated intracellular mannose 6-P may induce an ATP wasting cycle of dephosphorylation and rephosphorylation ("honey bee effect"). 21240668 2010
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease CLINVAR [Congenital disorder of glycosylation type 1b. Experience with mannose treatment]. 18928705 2008
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 CausalMutation disease CLINVAR [Congenital disorder of glycosylation type 1b. Experience with mannose treatment]. 18928705 2008
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker disease BEFREE The most interesting disease in this group is CDG-Ib (phosphomannose isomerase deficiency) because it is so far the only efficiently treatable CDG (mannose treatment). 12889654 2003
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease UNIPROT Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. 12414827 2002
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease UNIPROT DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). 12357336 2002
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker disease BEFREE PMM2 (CDG-Ia; 91 patients) and MPI (CDG-Ib; 10 patients). 11875054 2002
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker disease GENOMICS_ENGLAND Protein losing enteropathy-hepatic fibrosis syndrome in Saguenay-Lac St-Jean, Quebec is a congenital disorder of glycosylation type Ib. 12414827 2002
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 CausalMutation disease CLINVAR An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib. 11350186 2001
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease UNIPROT An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib. 11350186 2001
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease CLINVAR An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib. 11350186 2001
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease BEFREE She is homozygous for a mutation, D131N, in the phosphomannose isomerase gene (PM1), consistent with the diagnosis of carbohydrate deficient glycoprotein syndrome type 1b. 11567948 2001
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 Biomarker disease BEFREE The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency. 11134235 2001
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 GeneticVariation disease UNIPROT The successful treatment of CDG Ib patients with oral mannose emphasises the paramount importance of early diagnosis of PMI deficiency. 11134235 2001
CUI: C1865145
Disease: Congenital disorder of glycosylation type 1B
Congenital disorder of glycosylation type 1B 		0.790 AlteredExpression disease BEFREE An abnormal serum transferrin isoelectric focusing (IEF) pattern and a reduced PMI activity confirmed the diagnosis of CDG-Ib. 11350186 2001