congenital enterocyte heparan sulfate deficiency
MONDO:0015171Mondo
Findings
No curated finding names congenital enterocyte heparan sulfate deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Congenital enterocyte heparan sulfate deficiency is characterized by massive enteric protein loss, secretory diarrhea, and intolerance to enteral feeds during the first few weeks of life.
Definition from the Mondo Disease Ontology (MONDO:0015171), read 2026-09-29. CC BY 4.0.
Features
10 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 circulating polysaccharide concentrationHPOHP:0011012
- Very frequent (80% to 99% of cases)
- DiarrheaHPOHP:0002014
- Very frequent (80% to 99% of cases)
- HypoalbuminemiaHPOHP:0003073
- Very frequent (80% to 99% of cases)
- Protein-losing enteropathyHPOHP:0002243
- Very frequent (80% to 99% of cases)
- Weight lossHPOHP:0001824
- Very frequent (80% to 99% of cases)
- Abdominal distentionHPOHP:0003270
- Frequent (30% to 79% of cases)
- Abnormal circulating protein concentrationHPOHP:0010876
- Frequent (30% to 79% of cases)
- DehydrationHPOHP:0001944
- Frequent (30% to 79% of cases)
- EdemaHPOHP:0000969
- Frequent (30% to 79% of cases)
- HematocheziaHPOHP:0002573
- Frequent (30% to 79% of cases)
Where it sits
- A kind of