TRIM22-related inflammatory bowel disease
Synonyms: TRIM22-related IBD
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
A rare genetic gastroenterological disease characterized by infantile or childhood onset of severe gastrointestinal inflammation. Patients present with a variable phenotype including fever, diarrhea, failure to thrive, oral ulcers, fistulating perianal disease, strictures, granulomatous colitis, and recurrent bacterial and viral infections.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TRIM22-related inflammatory bowel disease | TRIM22-related IBD |
| fr | Maladie inflammatoire de l'intestin associée à TRIM22 | |
| de | TRIM22-abhängige chronisch-entzündliche Darmerkrankung | TRIM22-abhängige IBD |
| es | Enfermedad inflamatoria intestinal asociada a TRIM22 | |
| it | Malattia intestinale infiammatoria correlata a TRIM22 | IBD correlata a TRIM22 |
| nl | TRIM22-gerelateerde inflammatoire darmziekte | TRIM22-gerelateerde IBD |
| pt | Doença inflamatória do intestino TRIM22-relacionada | DII TRIM22-relacionada |
| pl | Choroba zapalna jelit związana z TRIM22 | = en |
| cs | Zánětlivé onemocnění střev související s TRIM22 | = en |
| uk | Запальні захворювання кишечника, повязані з TRIM22 | IBD, повязаний з TRIM22 |
| zh | TRIM22-related inflammatory bowel disease | = en |
| tr | TRIM22-related inflammatory bowel disease | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K52.8 | NTBT | attributed | validated |
| ICD-11 | DD7Y | NTBT | attributed | validated |
| MONDO | 0035362 | E | validated | |
| UMLS | C5680271 | 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 (1):
- ORPHA:717851Rare non-syndromic inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRIM22 | Disease-causing germline mutation(s) in | Assessed | HGNC:16379 | ENSG00000132274 | 606559 | 11p15.4 | tripartite motif containing 22 | 32463623[PMID]_26836588[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 26836588[PMID]_32463623[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26836588[PMID]_32463623[PMID]_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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597201
- This record as JSON: /data/d/597201.json