diarrhea-vomiting due to trehalase deficiency
Findings
No curated finding names diarrhea-vomiting due to trehalase deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.
Definition from the Mondo Disease Ontology (MONDO:0012803), read 2026-09-29. CC BY 4.0.
Features
6 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 distentionHPOHP:0003270
- Occasional (5% to 29% of cases)
- Abdominal painHPOHP:0002027
- Occasional (5% to 29% of cases)
- DiarrheaHPO · MondoHP:0002014
- Occasional (5% to 29% of cases)
- MalabsorptionHPOHP:0002024
- Occasional (5% to 29% of cases)
- VomitingHPO · MondoHP:0002013
- Occasional (5% to 29% of cases)
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.
- TREHHGNC:12266
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
1 name
Resolves to: diarrhea-vomiting due to trehalase deficiency
- Also called
- isolated trehalose intolerance