MPI, mannose phosphate isomerase, 4351

N. diseases: 101; N. variants: 34
Disease: Protein-Losing Enteropathies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.110 Biomarker group BEFREE We describe clinical, biochemical, and molecular findings in a 2(1/2)-year-old girl with a phosphomannose isomerase deficiency who presented with severe and persistent hypoglycemia and subsequently developed protein-losing enteropathy, liver disease, and coagulopathy. 10586187 1999
CUI: C0033680
Disease: Protein-Losing Enteropathies
Protein-Losing Enteropathies 		0.110 Biomarker group HPO