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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 |
|---|---|---|---|
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 5095 | PCCA | propionyl-CoA carboxylase subunit alpha | |
| 5096 | PCCB | propionyl-CoA carboxylase subunit beta | |
| 5238 | PGM3 | phosphoglucomutase 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta | |
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 6403 | SELP | selectin P | |
| 7355 | SLC35A2 | solute carrier family 35 member A2 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11172 | Uridine 5'-monophosphate synthase | |
| P11226 | Mannose-binding protein C | |
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P16109 | P-selectin | |
| P16442 | Histo-blood group ABO system transferase | |
| P19224 | UDP-glucuronosyltransferase 1-6 | |
| P19835 | Bile salt-activated lipase | |
| P20138 | Myeloid cell surface antigen CD33 | |
| P20815 | Cytochrome P450 3A5 |
