Trehalase deficiency
Synonyms: Isolated trehalose intolerance
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Trehalase deficiency | Isolated trehalose intolerance |
| fr | Déficit en tréhalase | Intolérance isolée au tréhalose |
| de | Trehalase-Mangel | Trehalose-Intoleranz, isolierte |
| es | Deficiencia de trehalasa | Intolerancia a la trehalosa aislada · Intolerancia aislada a la trehalosa |
| it | Deficit di trealasi | Intolleranza isolata al trealosio |
| nl | Trehalasedeficiëntie | Geïsoleerde trehalose-intolerantie |
| pt | Deficiência de trehalase | |
| pl | Biegunka-wymioty z powodu niedoboru trehalazy | Izolowana nietolerancja trehalozy |
| cs | Průjmové zvracení způsobené deficitem trehalázy | Izolovaná intolerance trehalózy |
| uk | Дефіцит трегалази | Ізольована непереносимість трегалози |
| zh | 海藻糖酶缺乏症 | 孤立性海藻糖不耐受 |
| tr | Trehalaz eksikliği | İzole trehaloz intoleransı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612119 | E | validated | |
| ICD-10 | E74.3 | NTBT | attributed | validated |
| ICD-11 | 5C61.3 | E | specific | validated |
| MONDO | 0012803 | E | validated | |
| MONDO | 12803 | E | validated | |
| MeSH | C562603 | E | validated | |
| UMLS | C0268187 | E | validated | |
| GARD | 10372 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:104006Congenital intestinal disease due to an enzymatic defect
rare gastroenterological diseases; rare genetic diseases - ORPHA:309001Disorder of carbohydrate absorption and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TREH | Disease-causing germline mutation(s) in | Not yet assessed | HGNC:12266 | ENSG00000118094 | 275360 | 11q23.3 | trehalase |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | >1 / 1000 | 7700 / 100 000 | Greenland | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
6 annotations · validated 2021-11-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Occasional (29-5%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002027 | Abdominal pain | |
| HP:0002014 | Diarrhea | |
| HP:0002024 | Malabsorption | |
| HP:0002013 | Vomiting | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 3227291[PMID]_4737205[PMID]_10522609[PMID]_24443064[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/103909
- This record as JSON: /data/d/103909.json