loading...| Preferred Name |
Trehalase deficiency |
| ID |
http://www.orpha.net/ORDO/Orphanet_103909 |
| alternative_term |
Isolated trehalose intolerance |
| definition |
A rare, genetic, intestinal disease characterized by osmotic diarrhea, abdominal pain and increased rectal flatulence after ingestion of trehalose, a disaccharide found mainly in mushrooms, due to intestinal trehalase deficiency. It occurs primarily in the Greenland population, although cases have also been reported elsewhere. |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=103909 |
| has_inheritance |
Autosomal dominant |
| hasDbXref |
UMLS:C0268187 OMIM:612119 ICD-11:5C61.3 ICD-10:E74.3 |
| label |
Trehalase deficiency |
| notation |
ORPHA:103909 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_103909 |
| prefLabel |
Trehalase deficiency |
| present_in |
Worldwide AND has_point_prevalence_range : Unknown Greenland AND has_annual_incidence_average_value : 7700.0 AND has_annual_incidence_range : >1 / 1000 |
| treeView | |
| subClassOf |