Primary autoimmune enteropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Status
- active
A rare intestinal disease characterized by immune-mediated injury of the intestinal mucosa, leading to severe, chronic, intractable diarrhea, malabsorption, and severe weight loss or failure to thrive. Characteristic histologic findings in the small intestine include partial or complete blunting of the villi, deep crypt lymphocytosis, increased crypt apoptosis, and minimal surface intraepithelial lymphocytosis. In addition, the stomach, colon, and esophagus may also be involved. Circulating autoantibodies against enterocytes and/or goblet cells are found in many, but not all, patients. The diagnosis requires exclusion of other causes of villous atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary autoimmune enteropathy | |
| fr | Entéropathie autoimmune primitive | |
| de | Autoimmun-Enteropathie, primäre | |
| es | Enteropatía autoinmune primaria | |
| it | Enteropatia autoimmune primitiva | |
| nl | Primaire auto-immune enteropathie | |
| pt | Enteropatia autoimune primária | |
| pl | Pierwotna enteropatia autoimmunologiczna | |
| cs | Primární autoimunitní enteropatie | |
| uk | Первинна аутоімунна ентеропатія | |
| zh | 原发性自身免疫性肠病 | |
| tr | Primer otoimmün enteropati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K90.8 | NTBT | attributed | validated |
| ICD-11 | DA96.0Y | NTBT | attributed | validated |
| MONDO | 0033862 | E | validated | |
| UMLS | C5681441 | 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:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders - ORPHA:94075Severe immune-mediated enteropathy
rare gastroenterological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522037
- This record as JSON: /data/d/522037.json