Details of Disease

General Information of Disease (ID: DISQXEG3)

Disease Name Diarrhea-vomiting due to trehalase deficiency
Synonyms trehalase deficiency; trehalose intolerance; isolated trehalose intolerance
Definition This syndrome is characterized by diarrhea and vomiting after ingestion of trehalose, a disaccharide found mainly in mushrooms.
Disease Hierarchy
DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption
DIS71G5H: Metabolic disorder
DISQXEG3: Diarrhea-vomiting due to trehalase deficiency
Disease Identifiers
MONDO ID
MONDO_0012803
MESH ID
C562603
UMLS CUI
C0268187
OMIM ID
612119
MedGen ID
75660
Orphanet ID
103909
SNOMED CT ID
84193000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
TREH OTJE0NOY Supportive Autosomal dominant [1]
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References

1 Clinical Practice Guidelines for Rare Diseases: The Orphanet Database. PLoS One. 2017 Jan 18;12(1):e0170365. doi: 10.1371/journal.pone.0170365. eCollection 2017.