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complement deficiency
Summary
- Synonym
-
- Complement deficiency disease
- Definition
- A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation.
- Super Class
- primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:626
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5743 | PTGS2 | prostaglandin-endoperoxide synthase 2 | |
| 6401 | SELE | selectin E | |
| 6646 | SOAT1 | sterol O-acyltransferase 1 | |
| 7903 | ST8SIA4 | ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 | |
| 8434 | RECK | reversion inducing cysteine rich protein with kazal motifs | |
| 8547 | FCN3 | ficolin 3 | |
| 8809 | IL18R1 | interleukin 18 receptor 1 | |
| 10747 | MASP2 | MBL associated serine protease 2 | |
| 10998 | SLC27A5 | solute carrier family 27 member 5 |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P12821 | Angiotensin-converting enzyme | |
| P13591 | Neural cell adhesion molecule 1 | |
| P16581 | E-selectin | |
| P19835 | Bile salt-activated lipase | |
| P22897 | Macrophage mannose receptor 1 | |
| P27797 | Calreticulin | |
| P34913 | Bifunctional epoxide hydrolase 2 | |
| P35354 | Prostaglandin G/H synthase 2 | |
| P35610 | Sterol O-acyltransferase 1 | |
| P36222 | Chitinase-3-like protein 1 |
