ORPHA:597887
ALPI-related inflammatory bowel disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Infancy
- Status
- active
A rare genetic gastroenterological disease characterized by severe, refractory intestinal inflammation with mucosal erosions and ulcerations potentially involving the small and large intestine. Epithelioid granulomas are typically absent. Patients present with severe diarrhea, abdominal pain, vomiting, rectal bleeding, and weight loss.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | ALPI-related inflammatory bowel disease | |
| fr | Maladie inflammatoire de l'intestin associée à ALPI | |
| de | Darmerkrankung, chronisch-entzündliche, ALPI-assoziierte | |
| es | Enfermedad inflamatoria intestinal asociada al gen ALPI | |
| it | Malattia infiammatoria intestinale correlata ad ALPI | |
| nl | ALPI-gerelateerde inflammatoire darmziekte | |
| pt | Doença inflamatória do intestino ALPI-relacionada | |
| pl | Zapalna choroba jelit zwiazana z ALPI | |
| cs | Zánětlivé onemocnění střev související s ALPI | |
| uk | Запальні захворювання кишечника, повязані з ALPI | |
| zh | ALPI-related inflammatory bowel disease | |
| tr | ALPI-related inflammatory bowel disease |
Definition in:
2
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 | 0035370 | E | validated | |
| UMLS | C5681586 | E | validated |
E 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 |
|---|---|---|---|---|---|---|---|---|
| ALPI | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:437 | ENSG00000163295 | 171740 | 2q37.1 | alkaline phosphatase, intestinal | 29567797[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 29567797[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29567797[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/597887
- This record as JSON: /data/d/597887.json