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immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Summary
- Synonym
-
- Autoimmune enteropathy type 1
- DMSD
- IDDM-secretory diarrhea syndrome
- IPEX
- X-linked autoimmunity-allergic dysregulation syndrome
- XLAAD
- XPID
- autoimmunity-immunodeficiency syndrome, X-linked
- diabetes mellitus, congenital insulin-dependent, with fatal secretory diarrhea
- diarrhea, polyendocrinopathy, fatal infection syndrome, X-linked
- immunodeficiency, polyendocrinopathy, and enteropathy, X-linked
- immunodysregulation, polyendocrinopathy, and enteropathy, X-Linked
- Definition
- An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11.
- Super Class
- X-linked recessive disease autoimmune disease
External Links
- Disease Ontology
- DOID:0090110
- Mondo Disease Ontology
- MeSH
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 124 | ADH1A | alcohol dehydrogenase 1A (class I), alpha polypeptide | |
| 308 | ANXA5 | annexin A5 | |
| 353 | APRT | adenine phosphoribosyltransferase | |
| 2821 | GPI | glucose-6-phosphate isomerase | |
| 3938 | LCT | lactase | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 5091 | PC | pyruvate carboxylase | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5320 | PLA2G2A | phospholipase A2 group IIA |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O60760 | Hematopoietic prostaglandin D synthase | |
| P06744 | Glucose-6-phosphate isomerase | |
| P07741 | Adenine phosphoribosyltransferase | |
| P08758 | Annexin A5 | |
| P09848 | Lactase/phlorizin hydrolase | |
| P11226 | Mannose-binding protein C | |
| P11498 | Pyruvate carboxylase, mitochondrial | |
| P14550 | Aldo-keto reductase family 1 member A1 | |
| P14555 | Phospholipase A2, membrane associated | |
| P16581 | E-selectin |
