MPI Chromosome 15
Mannose phosphate isomerase
Upload your DNA to see your personal genotypes for variants in MPI.
What This Gene Does
Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014]
Associated Conditions (2)
MPI-congenital disorder of glycosylation
MPI-related disorder
Key Variants
RS1057516550
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation
Health Risk
RS1268293635
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS139228075
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS139866632
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS143982014
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation
Health Risk
RS144118442
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS150217523
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS1595822583
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS199719453
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS199972529
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS200903491
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
RS2064752971
Conflicting classifications of pathogenicity
MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
Health Risk
All Variants (132)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2505809803 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811218 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811546 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811587 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811612 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505813641 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505813839 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505815744 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505815768 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505815924 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505816957 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505825556 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505825772 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505828744 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505829213 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505829330 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505829538 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505831580 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505831656 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS28928906 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS566620411 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS752976348 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS775284878 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS978284448 | Health Risk | Likely pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS104894489 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-related disorder, MPI-congenital disorder of glycosylation |
| RS1276918786 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1313637977 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1373861722 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1406722622 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1567268668 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS1567268682 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2064840759 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141197839 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141200617 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141206676 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141206722 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141208718 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2141208760 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811178 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811185 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811190 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811246 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505811515 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505813657 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505813674 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505815582 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505816823 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505817125 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505817175 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |
| RS2505817193 | Health Risk | Pathogenic | MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation |