Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024
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Preferred Name

Trehalase deficiency
Synonyms

Isolated trehalose intolerance
Definitions

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.
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_age_of_onset

Adolescent

Adult
has_inheritance

Autosomal dominant
hasDbXref

UMLS:C0268187

MeSH:C562603

ICD-10:E74.3

OMIM:612119

ICD-11:5C61.3
label

Trehalase deficiency
notation

ORPHA:103909
part_of

http://www.orpha.net/ORDO/Orphanet_309001

http://www.orpha.net/ORDO/Orphanet_104006
prefixIRI

ORDO:Orphanet_103909
prefLabel

Trehalase deficiency
present_in

Greenland AND has_annual_incidence_average_value : 7700.0 AND has_annual_incidence_range : >1 / 1000

Worldwide AND has_point_prevalence_range : Unknown
treeView

http://www.orpha.net/ORDO/Orphanet_309001

http://www.orpha.net/ORDO/Orphanet_104006
subClassOf

http://www.orpha.net/ORDO/Orphanet_377788

http://www.orpha.net/ORDO/Orphanet_557493
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