protein-losing enteropathy
Findings
No curated finding names protein-losing enteropathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009174), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased circulating immunoglobulin concentrationHPOHP:0004313
- 11 of 11 reported patients
- MalabsorptionHPOHP:0002024
- 11 of 11 reported patients
- HypoalbuminemiaHPOHP:0003073
- 10 of 11 reported patients
- AnemiaHPOHP:0001903
- 9 of 11 reported patients
- EdemaHPOHP:0000969
- 9 of 11 reported patients
- DiarrheaHPOHP:0002014
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CD55HGNC:2665
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: protein-losing enteropathy
- Also called
- protein-losing enteropathy (disease)