ORPHA:714484
AGR2-related infantile-onset inflammatory bowel disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AGR2-related infantile-onset inflammatory bowel disease | |
| fr | Maladie inflammatoire de l'intestin à début infantile associée à AGR2 | |
| de | AGR2-assoziierte entzündliche Darmerkrankung mit Beginn im Kindesalter | |
| es | Enfermedad inflamatoria intestinal asociada a AGR2 de inicio infantil | |
| it | Malattia infiammatoria intestinale ad esordio infantile correlata ad AGR2 | |
| nl | AGR2-gerelateerde infantiel optredende inflammatoire darmziekte | AGR2-gerelateerde inflammatoire darmziekte beginnend op zuigelingenleeftijd |
| pt | AGR2-related infantile-onset inflammatory bowel disease | |
| pl | Nieswoista choroba zapalna jelit o początku w wieku niemowlęcym związana z AGR2 | |
| cs | AGR2-related infantile-onset inflammatory bowel disease |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AGR2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:328 | ENSG00000106541 | 606358 | 7p21.1 | anterior gradient 2, protein disulphide isomerase family member | 34237462[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 34237462[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34237462[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/714484
- This record as JSON: /data/d/714484.json