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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 |
|---|---|---|---|
| 1577 | CYP3A5 | cytochrome P450 family 3 subfamily A member 5 | |
| 1636 | ACE | angiotensin I converting enzyme | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 2271 | FH | fumarate hydratase | |
| 2538 | G6PC1 | glucose-6-phosphatase catalytic subunit 1 | |
| 2542 | SLC37A4 | solute carrier family 37 member 4 | |
| 3161 | HMMR | hyaluronan mediated motility receptor | |
| 3425 | IDUA | alpha-L-iduronidase | |
| 4153 | MBL2 | mannose binding lectin 2 | |
| 4594 | MMUT | methylmalonyl-CoA mutase |
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 |
