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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 |
|---|---|---|---|
| 2053 | EPHX2 | epoxide hydrolase 2 | |
| 2215 | FCGR3B | Fc gamma receptor IIIb | |
| 3956 | LGALS1 | galectin 1 | |
| 4069 | LYZ | lysozyme | |
| 4126 | MANBA | mannosidase beta | |
| 4360 | MRC1 | mannose receptor C-type 1 | |
| 4684 | NCAM1 | neural cell adhesion molecule 1 | |
| 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 |
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 |
