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severe congenital neutropenia
Summary
- Definition
- A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections.
- Super Class
- neutropenia physical disorder
External Links
- Disease Ontology
- DOID:0050590
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 7372 | UMPS | uridine monophosphate synthetase | |
| 8794 | TNFRSF10C | TNF receptor superfamily member 10c | |
| 9663 | LPIN2 | lipin 2 | |
| 10135 | NAMPT | nicotinamide phosphoribosyltransferase | |
| 10559 | SLC35A1 | solute carrier family 35 member A1 | |
| 10998 | SLC27A5 | solute carrier family 27 member 5 | |
| 25839 | COG4 | component of oligomeric golgi complex 4 | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 27087 | B3GAT1 | beta-1,3-glucuronyltransferase 1 | |
| 51302 | CYP39A1 | cytochrome P450 family 39 subfamily A member 1 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9P2W7 | Galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 1 |
