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loading...| Preferred Name |
TREHALASE DEFICIENCY |
| Synonyms |
TREHALOSE INTOLERANCE |
| ID |
http://purl.bioontology.org/ontology/OMIM/612119 |
| altLabel |
TREHALOSE INTOLERANCE |
| cui |
C0268187 |
| Gene Locus |
11q23 |
| Gene Symbol |
TREH TREHD |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU060366 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
612119 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
TREHALASE DEFICIENCY |
| Scope Statement |
Trehalase activity is decreased in patients with untreated celiac disease, and recovers to normal on a gluten-free diet [MISCELLANEOUS] Trehalase activity correlates with duodenal histology, with statistically significant lower values in partial and total villous atrophy compared to normal histology [MISCELLANEOUS] Caused by mutation in the trehalase gene (TREH, 275360.0001) [MOLECULAR BASIS] |
| tui |
T047 |
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