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
Displaying entries 1 - 10 of 34 in total
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

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024