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Tn polyagglutination syndrome
Summary
- Synonym
-
- galactosyltransferase deficiency
- Definition
- A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24.
- Super Class
- hematopoietic system disease
External Links
- Disease Ontology
- DOID:0080520
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 448225 | c1galt1c1 | C1GALT1 specific chaperone 1 | Xenopus tropicalis (tropical clawed frog) | |
| 495031 | c1galt1c1.L | C1GALT1 specific chaperone 1 L homeolog | Xenopus laevis (African clawed frog) | |
| 108700090 | c1galt1c1.S | C1GALT1 specific chaperone 1 S homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001877 | Abnormal erythrocyte morphology |
| HP:0001442 | Typified by somatic mosaicism |
| HP:0002960 | Autoimmunity |
