primary intestinal lymphangiectasia
Findings
No curated finding names primary intestinal lymphangiectasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Primary intestinal lymphangiectasia (PIL) is a rare intestinal disease characterized by dilated intestinal lacteals which cause lymph leakage into the small bowel lumen. Clinical manifestations include edema related to hypoalbuminemia (protein-losing enteropathy), asthenia, diarrhea, lymphedema and failure to thrive in children.
Definition from the Mondo Disease Ontology (MONDO:0007916), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Abnormal lymphatic vessel morphologyHPOHP:0100766
- Very frequent (80% to 99% of cases)
- AnemiaHPOHP:0001903
- Very frequent (80% to 99% of cases)
- Combined immunodeficiencyHPOHP:0005387
- Very frequent (80% to 99% of cases)
- EdemaHPOHP:0000969
- Very frequent (80% to 99% of cases)
- Functional abnormality of the gastrointestinal tractHPOHP:0012719
- Very frequent (80% to 99% of cases)
- Intestinal lymphangiectasiaHPOHP:0002593
- Very frequent (80% to 99% of cases)
Show the remaining 22
- HypoalbuminemiaHPOHP:0003073
- Frequent (30% to 79% of cases)
- HypoproteinemiaHPOHP:0003075
- Frequent (30% to 79% of cases)
- Weight lossHPOHP:0001824
- Frequent (30% to 79% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- AscitesHPOHP:0001541
- Occasional (5% to 29% of cases)
- Decreased circulating IgA concentrationHPOHP:0002720
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: primary intestinal lymphangiectasia
- Also called
- Waldmann disease