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GTR Home > Conditions/Phenotypes > Diarrhea 10, protein-losing enteropathy type

Diarrhea 10, protein-losing enteropathy type

Summary

Diarrhea-10 (DIAR10) is a protein-losing enteropathy characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities. Some patients exhibit facial dysmorphism and cardiac and renal anomalies. Intrafamilial variability has been observed, and the disease can be severe, with death occurring in infancy in some patients (Broekaert et al., 2018; Kurolap et al., 2018). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]

Available tests

6 tests are in the database for this condition.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DIAR10, FELS, PV-1, PV1, gp68, PLVAP
    Summary: plasmalemma vesicle associated protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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