chronic granulomatous disease

Summary
Synonym
  • Bridges-Good syndrome
  • CGD
  • Congenital dysphagocytosis
  • Quie syndrome
Definition
A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.
Super Class
phagocyte bactericidal dysfunction
External Links
Disease Ontology
DOID:3265
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying entries 1 - 10 of 12 in total
Gene ID Gene Symbol Description Source
847 CAT catalase
1056 CEL carboxyl ester lipase
1594 CYP27B1 cytochrome P450 family 27 subfamily B member 1
1943 EFNA2 ephrin A2
2539 G6PD glucose-6-phosphate dehydrogenase
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
5293 PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta
5373 PMM2 phosphomannomutase 2
7355 SLC35A2 solute carrier family 35 member A2
10998 SLC27A5 solute carrier family 27 member 5
Displaying 1 entry
Gene ID Gene Symbol Description Source
43222 Tl Toll

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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