Traits

Traits linked to MPI

mannose phosphate isomerase

The Human Phenotype Ontology links 35 traits to MPI, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the digestive system

Trait	How often it is seen
Diarrhea	Always
Enlarged liver	Always
Fat in feces	Always
Hepatic fibrosis	Always
Scar tissue replaces healthy tissue in the liver	Always
Villous atrophy	Always
Vomiting	Always
Decreased liver function	Often (30–79%)
Protein-losing enteropathy	Often (30–79%)
Liver failure	Not recorded

Abnormality of blood and blood-forming tissues

Trait	How often it is seen
Abnormality of the coagulation cascade	Very often (80–99%)
Reduced antithrombin antigen	Very often (80–99%)
Abnormal blood clot	Often (30–79%)
Gastrointestinal bleeding	Often (30–79%)
Reduced factor XI activity	Often (30–79%)
Reduced protein C activity	Often (30–79%)
Reduced protein S activity	Often (30–79%)
Bleeding tendency	Not recorded
Reduced antithrombin III activity	Not recorded

Laboratory abnormality

Trait	How often it is seen
Abnormal circulating enzyme concentration or activity	Always
Reduced tissue phosphomannose isomerase activity	Always
Low albumin	Very often (80–99%)
Fluid retention	Often (30–79%)
Hyperinsulinemic hypoglycemia	Often (30–79%)
Type I transferrin isoform profile	Not recorded

Abnormality of the cardiovascular system

Trait	How often it is seen
Portal hypertension	Often (30–79%)
Lymphangiectasis	Not recorded

Abnormality of the genitourinary system

Trait	How often it is seen
Cystic kidney disease	Always
Proximal tubulopathy	Often (30–79%)

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Generalized decreased muscle tone	Not recorded

Abnormality of the nervous system

Trait	How often it is seen
Abnormality of the nervous system	Not recorded
Intellectual disability	Not recorded

Abnormality of the endocrine system

Trait	How often it is seen
Underactive thyroid	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Always

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to MPI and how often each is seen. Find out more at hpo.jax.org.

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