IEMbase 0322: MPI-related phosphomannose isomerase deficiency
Scope
| Field | Value |
|---|---|
| IEMbase ID | 322 |
| Nosology | 18.1.02.01 |
| Gene | MPI |
| External IDs | OMIM:602579; ORPHA:79319 |
| Generated mapping | UNMAPPED |
| Candidate DisMech targets | No valid local MPI-CDG target |
| Review date | 2026-07-07 |
IEMbase phenotype signal
IEMbase represents MPI-CDG/CDG-Ib as an autosomal recessive congenital disorder of glycosylation. Characteristic rows include hypoketotic hypoglycemia, liver fibrosis, and protein-losing enteropathy. Additional clinical rows include diarrhea, hyperinsulinism, hypotonia, psychomotor retardation, and thrombosis.
The biochemical profile includes enzyme, glycan, coagulation, and metabolic rows: normal-to-increased or increased serum arylsulfatase A, decreased plasma cholinesterase, increased or normal-to-increased transaminase, low free fatty acids and ketones during hypoglycemia, increased asialotransferrin and disialotransferrin, type 1 sialotransferrin pattern, decreased tetrasialotransferrin, decreased serum albumin, cholesterol, glucose, and thyroxin-binding globulin, decreased antithrombin III, factor XI, and protein C, and increased insulin during hypoglycemia. No treatment rows are present in the cached record.
DisMech phenotype coverage
No valid local MPI-CDG target exists. Existing CDG entries are gene-specific to other disorders and should not be used as MPI coverage. They provide only broad CDG context for hypotonia, developmental delay, coagulation abnormalities, and type I transferrin abnormalities.
The distinctive IEMbase signal is not represented locally: protein-losing enteropathy, hypoketotic hyperinsulinemic hypoglycemia, liver fibrosis, and the specific anticoagulant/protein-losing biochemical pattern.
Concordance and completeness
Judgement: true local disease gap.
MPI-CDG is clinically and therapeutically distinct enough that broad CDG phenotype overlap is not a safe canonical mapping. The absence of a local MPI entry is the key finding.
Curation actions
- Add a standalone MPI-CDG target before treating this record as mapped.
- Preserve the protein-losing enteropathy, hypoglycemia, liver fibrosis, thrombosis, coagulation-factor, and serum-protein signals as core curation prompts.
- Do not map this record to ALG12-CDG, ALG9-CDG, or other gene-specific CDG files.