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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 |
|---|---|---|---|
| 811 | CALR | calreticulin | |
| 847 | CAT | catalase | |
| 929 | CD14 | CD14 molecule | |
| 1056 | CEL | carboxyl ester lipase | |
| 1116 | CHI3L1 | chitinase 3 like 1 | |
| 1118 | CHIT1 | chitinase 1 | |
| 1589 | CYP21A2 | cytochrome P450 family 21 subfamily A member 2 | |
| 1594 | CYP27B1 | cytochrome P450 family 27 subfamily B member 1 | |
| 1604 | CD55 | CD55 molecule (Cromer blood group) | |
| 1636 | ACE | angiotensin I converting enzyme |
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 |
