Diarrhea-vomiting due to trehalase deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: TREHALOSE INTOLERANCE
Isolated trehalose intolerance
Number of Symptoms 2
OrphanetNr: 103909
OMIM Id: 612119
ICD-10: E74.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital intestinal disease due to an enzymatic defect
 -Rare gastroenterologic disease
 -Rare genetic disease
Disorder of carbohydrate absorption and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002014) Diarrhea 225 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Trehalose is a disaccharide found in mushrooms, algae, and insect hemolymph; mushrooms and products containing baker's yeast are thus the only sources of trehalose in the human diet. The high concentration of trehalose in cryptobiotic plants is responsible ...
Clinical Description OMIM Madzarovova-Nohejlova (1973) reported a family in which a 24-year-old presented with diarrhea and vomiting after ingestion of a large amount of edible mushrooms. Peroral biopsies of jejunal mucosa in 6 members of the family revealed trehalase deficiency in ...