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protein-losing enteropathy

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


Explore Associated Targets
Mondo Description Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.
Uniprot Description An autosomal recessive disease characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, edema due to hypoproteinemia, malabsorption, and less frequently, bowel inflammation, recurrent infections, and angiopathic thromboembolic disease. Patients' T lymphocytes show increased complement activation causing surface deposition of complement and the generation of soluble C5a.
Mondo Term and Equivalent IDs
MONDO:0009174:  protein-losing enteropathy
MESH:D011504: 
Orphanet:566175: 
SCTID:22542007: 
UMLS:C0033680: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)