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GTR Home > Conditions/Phenotypes > Congenital diarrhea 7 with exudative enteropathy

Congenital diarrhea 7 with exudative enteropathy

Synonyms
Diarrhea 7
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Diarrhea-7 (DIAR7) is a protein-losing enteropathy characterized by early-onset nonbloody watery diarrhea and unresponsiveness to soy-based or elemental formulas. Patients experience failure to thrive, hypogammaglobulinemia with recurrent infections, and require albumin infusions and parenteral nutrition. Hypertriglyceridemia and digital clubbing have been observed (Stephen et al., 2016). The malabsorption can result in severe deficiency of vitamin D and other nutrients (Gupta et al., 2020). For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700). [from OMIM]

Available tests

13 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (13 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARAT, ARGP1, DGAT, DIAR7, DGAT1
    Summary: diacylglycerol O-acyltransferase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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