chronic diarrhea due to glucoamylase deficiency
MONDO:0015169Mondo
Findings
No curated finding names chronic diarrhea due to glucoamylase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by chronic diarrhea in infancy or childhood in association with intestinal glucoamylase deficiency.
Definition from the Mondo Disease Ontology (MONDO:0015169), 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 enzyme concentration or activityHPOHP:0012379
- Very frequent (80% to 99% of cases)
- Abdominal painHPOHP:0002027
- Frequent (30% to 79% of cases)
- Abnormal small intestinal mucosa morphologyHPOHP:0025129
- Frequent (30% to 79% of cases)
- Decreased small intestinal mucosa lactase levelHPOHP:0025130
- Frequent (30% to 79% of cases)
- DyspepsiaHPOHP:0410281
- Frequent (30% to 79% of cases)
- MalabsorptionHPOHP:0002024
- Frequent (30% to 79% of cases)
- Abdominal distentionHPOHP:0003270
- Occasional (5% to 29% of cases)
- Chronic diarrheaHPOHP:0002028
- Occasional (5% to 29% of cases)
- NauseaHPOHP:0002018
- Occasional (5% to 29% of cases)
- VomitingHPOHP:0002013
- Occasional (5% to 29% of cases)
Where it sits
Other names
1 name
Resolves to: chronic diarrhea due to glucoamylase deficiency
- Also called
- maltase-glucoamylase deficiency