MCID: CHR012
MIFTS: 74

Chronic Granulomatous Disease malady

Genetic diseases, Rare diseases, Eye diseases, Gastrointestinal diseases, Respiratory diseases, Skin diseases, Blood diseases, Immune diseases categories

Summaries for Chronic Granulomatous Disease

About this section


NIH Rare Diseases:43 Chronic granulomatous disease (cgd) is a rare, inherited immunodeficiency that affects certain white blood cells. people affected by this condition have immune systems that do not function properly, leaving the body vulnerable to chronic inflammation and frequent bacterial and fungal infections. the features of this condition usually develop in infancy or early childhood; however, milder forms may be diagnosed in the teen years or even in adulthood. it is caused by changes (mutations) in any one of five different genes and is usually inherited in an autosomal recessive or x-linked recessive manner. treatment consists of continuous therapy with antibiotic and antifungal medications to treat and prevent infections. last updated: 2/11/2015

MalaCards based summary: Chronic Granulomatous Disease, also known as cgd, is related to aspergillosis and pneumonia, and has symptoms including sinusitis, otitis media and cutaneous photosensitivity. An important gene associated with Chronic Granulomatous Disease is NCF1 (neutrophil cytosolic factor 1), and among its related pathways are Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics and Lymphocyte Signaling. The compounds hocl and fumarate have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, skin and bone, and related mouse phenotypes are cardiovascular system and digestive/alimentary.

Disease Ontology:10 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, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.

Genetics Home Reference:23 Chronic granulomatous disease is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease have recurrent bacterial and fungal infections. People with this condition often have areas of inflammation (granulomas) in various tissues that can be damaging to those tissues. The features of chronic granulomatous disease usually first appear in childhood, although some individuals do not show symptoms until later in life.

Wikipedia:65 Chronic granulomatous disease (CGD) (also known as Bridges?Good syndrome, Chronic granulomatous... more...

GeneReviews summary for cgd

Aliases & Classifications for Chronic Granulomatous Disease

About this section
Sources:
32LifeMap Discovery®, 10Disease Ontology, 65Wikipedia, 21GeneReviews, 43NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 45Novoseek, 49Orphanet, 24GTR, 62UMLS, 40NCIt, 57SNOMED-CT, 29ICD9CM, 35MeSH, 36MESH via Orphanet, 28ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Chronic Granulomatous Disease, Aliases & Descriptions:

Name: Chronic Granulomatous Disease 32 10 21 43 23 12 49
Cgd 10 21 43 23 49
Granulomatous Disease, Chronic 43 22 23 62
Autosomal Recessive Chronic Granulomatous Disease 23 62
Chronic Granulomatous Disorder 65 62
Chronic Septic Granulomatosis 43 49
Granulomatous Disease Chronic 45 24
 
Granulomatous Disease, Chronic, X-Linked 62
X-Linked Chronic Granulomatous Disease 23
Immunodeficiency with Thymoma 62
Congenital Dysphagocytosis 10
Bridges-Good Syndrome 10
Quie Syndrome 10


Classifications:



Characteristics (Orphanet epidemiological data):

49
chronic granulomatous disease:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (France),1-9/1000000 (Sweden),1-9/1000000 (Italy),1-9/1000000 (Denmark),1-9/1000000 (Netherlands),<1/1000000 (Australia),1-9/1000000 (Japan),1-9/1000000 (Korea, Republic of),1-9/1000000 (Latin America),1-9/1000000 (Israel); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adult,young Adult


External Ids:

Disease Ontology10 DOID:3265
NCIt40 C26788
ICD9CM29 288.1
MeSH35 D006105
Orphanet49 379
MESH via Orphanet36 D006105
ICD10 via Orphanet28 D71
UMLS via Orphanet63 C0018203

Related Diseases for Chronic Granulomatous Disease

About this section

Diseases related to Chronic Granulomatous Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1aspergillosis31.1MT-CYB, IFNG, NCF2
2pneumonia30.7MT-CYB, CXCL1
3inflammatory bowel disease30.3CXCL1, IFNG, LTBR
4leishmaniasis30.3MT-CYB, IFNG
5leukemia30.2CYBB, CXCL1, IFNG, CCR1, CYBA
6atherosclerosis30.0NOX1, CXCL1, CYBB, CYBA, NCF2
7osteomyelitis10.7
8hepatitis10.6
9hematopoietic stem cell transplantation10.6
10lupus erythematosus10.6
11colitis10.6
12discoid lupus erythematosus10.5
13invasive aspergillosis10.5
14chronic granulomatous disease, x-linked10.5
15chronic granulomatous disease due to deficiency of ncf-110.3
16chronic granulomatous disease, autosomal, due to deficiency of cyba10.3
17mcleod syndrome with or without chronic granulomatous disease10.3
18crohn's disease10.3
19hemophagocytic lymphohistiocytosis10.3
20chorioretinitis10.3
21lymphadenitis10.3
22swyer syndrome10.3
23kawasaki disease10.3
24keratitis10.3
25chronic granulomatous disease due to deficiency of ncf-210.3
26thrombocytopenia10.3
27nocardiosis10.3
28cystitis10.3
29retinitis10.3
30tuberculosis10.3
31eosinophilic cystitis10.3
32macrophage activation syndrome10.3
33gastric outlet obstruction10.3
34chediak-higashi syndrome10.2
35myeloperoxidase deficiency10.2
36granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii10.2
37celiac disease10.2
38leukocyte adhesion deficiency10.2
39duchenne muscular dystrophy10.2
40acne10.2
41retinitis pigmentosa10.2
42severe combined immunodeficiency10.2
43acalculous cholecystitis10.2
44splenic abscess10.2
45epidural abscess10.2
46visceral leishmaniasis10.2
47cholecystitis10.2
48esophagitis10.2
49interstitial lung disease10.2
50meningitis10.2

Graphical network of the top 20 diseases related to Chronic Granulomatous Disease:



Diseases related to chronic granulomatous disease

Symptoms for Chronic Granulomatous Disease

About this section


Symptoms:

 49 (show all 25)
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • chronic/relapsing otitis
  • skin photosensitivity
  • urticaria
  • macules
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • gastric/pyloric stenosis
  • malabsorption/chronic diarrhea/steatorrhea
  • hepatomegaly/liver enlargement (excluding storage disease)
  • mediastinal/hilar adenopathies
  • repeat respiratory infections
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • polynuclear cells/neutrophils anomalies/neutropenia
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • fever/chilling
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • gingivitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • eczema
  • liver/hepatic abscess
  • splenomegaly
  • meningitis/meningeal syndrome
  • sepsis severe/septicemia

HPO human phenotypes related to Chronic Granulomatous Disease:

(show all 22)
id Description Frequency HPO Source Accession
1 sinusitis hallmark (90%) HP:0000246
2 otitis media hallmark (90%) HP:0000388
3 cutaneous photosensitivity hallmark (90%) HP:0000992
4 urticaria hallmark (90%) HP:0001025
5 hypermelanotic macule hallmark (90%) HP:0001034
6 abnormality of neutrophils hallmark (90%) HP:0001874
7 pyloric stenosis hallmark (90%) HP:0002021
8 malabsorption hallmark (90%) HP:0002024
9 recurrent respiratory infections hallmark (90%) HP:0002205
10 hepatomegaly hallmark (90%) HP:0002240
11 tracheoesophageal fistula hallmark (90%) HP:0002575
12 abnormality of temperature regulation hallmark (90%) HP:0004370
13 chronic obstructive pulmonary disease hallmark (90%) HP:0006510
14 mediastinal lymphadenopathy hallmark (90%) HP:0100721
15 gingivitis occasional (7.5%) HP:0000230
16 eczema occasional (7.5%) HP:0000964
17 meningitis occasional (7.5%) HP:0001287
18 splenomegaly occasional (7.5%) HP:0001744
19 liver abscess occasional (7.5%) HP:0100523
20 inflammatory abnormality of the eye occasional (7.5%) HP:0100533
21 sepsis occasional (7.5%) HP:0100806
22 skin ulcer occasional (7.5%) HP:0200042

Drugs & Therapeutics for Chronic Granulomatous Disease

About this section

Drug clinical trials:

Search ClinicalTrials for Chronic Granulomatous Disease

Search NIH Clinical Center for Chronic Granulomatous Disease

Cell-based therapeutics:


LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine
Read about Chronic Granulomatous Disease cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Chronic Granulomatous Disease:
ALD-151, umbilical cord blood cells for hematologic and immunodefeciency diseases
Embryonic/Adult Cultured Cells Related to Chronic Granulomatous Disease:
Umbilical cord blood ALDH+ cells (ALD-151), PMID: 10430905

Genetic Tests for Chronic Granulomatous Disease

About this section

Genetic tests related to Chronic Granulomatous Disease:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease22 24 NCF4

Anatomical Context for Chronic Granulomatous Disease

About this section

MalaCards organs/tissues related to Chronic Granulomatous Disease:

33
Neutrophil, Skin, Bone, Lung, Liver, Bone marrow, Eye, Brain, Testes, B cells, T cells, Myeloid, Monocytes, Thymus, Spinal cord, Colon, Prostate, B lymphoblasts

Animal Models for Chronic Granulomatous Disease or affiliated genes

About this section

MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.9NOX1, NCF1C, IFNG, CCR1, CXCL1, CYBB
2MP:00053817.8CYBB, CCR1, IFNG, NOX1, LTBR
3MP:00053977.1CYBB, CYBA, STX11, CCR1, IFNG, CORO1A
4MP:00053766.9CYBB, CYBA, STX11, CCR1, IFNG, NCF1C
5MP:00053876.5LTBR, CYBB, CYBA, STX11, CCR1, IFNG

Publications for Chronic Granulomatous Disease

About this section

Articles related to Chronic Granulomatous Disease:

(show top 50)    (show all 742)
idTitleAuthorsYear
1
Chronic granulomatous disease presenting with ecthyma gangrenosum in a neonate. (25037808)
2014
2
Assessment of Atherosclerosis in Chronic Granulomatous Disease. (25239440)
2014
3
Refractory invasive aspergillosis controlled with posaconazole and pulmonary surgery in a patient with chronic granulomatous disease: case report. (24401677)
2014
4
An AAVS1-Targeted Minigene Platform for Correction of iPSCs From All Five Types of Chronic Granulomatous Disease. (25288370)
2014
5
Undiagnosed Chronic Granulomatous Disease, Burkholderia cepacia complex Pneumonia, and Acquired Hemophagocytic Lymphohistiocytosis: A Deadly Association. (24058739)
2013
6
Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. (24161820)
2013
7
Rapid detection of intracellular p47phox and p67phox by flow cytometry; useful screening tests for chronic granulomatous disease. (23306776)
2013
8
Metacarpal osteomyelitis and chronic granulomatous disease. (23328827)
2013
9
Aspergillus nidulans and chronic granulomatous disease: a unique host-pathogen interaction. (22829648)
2012
10
Successful treatment of Aspergillus flavus spondylodiscitis with epidural abscess in a patient with chronic granulomatous disease. (21873929)
2012
11
Adenosine A(2A) receptor activation limits chronic granulomatous disease-induced hyperinflammation. (21130984)
2011
12
Chronic granulomatous disease and serious unilateral keratitis with bilateral conjunctivitis: a rare case of external ocular disease. (20163362)
2011
13
Chronic granulomatous disease, catalase, and Actinomyces. (20367233)
2010
14
Incomplete Kawasaki disease in a patient with chronic granulomatous disease. (20723110)
2010
15
Unusual presentation of brain aspergillosis in chronic granulomatous disease. (21093739)
2010
16
Impaired phagocytosis of apoptotic cells by macrophages in chronic granulomatous disease is reversed by IFN-I^ in a nitric oxide-dependent manner. (20805415)
2010
17
Vertebral osteomyelitis due to Aspergillus fumigatus in a patient with chronic granulomatous disease successfully treated with antifungal agents and interferon-gamma. (19886765)
2010
18
Carriers of X-linked chronic granulomatous disease at risk. (19004669)
2009
19
Multiple-azole-resistant Aspergillus fumigatus osteomyelitis in a patient with chronic granulomatous disease successfully treated with long-term oral posaconazole and surgery. (19101840)
2009
20
Autosomal recessive chronic granulomatous disease, IgA deficiency and refractory autoimmune thrombocytopenia responding to Anti-CD20 monoclonal antibody. (18780954)
2008
21
First successful bone marrow transplantation for X-linked chronic granulomatous disease by using preimplantation female gender typing and HLA matching. (18762514)
2008
22
Genetics, biology and clinical management of myeloid cell primary immune deficiencies: chronic granulomatous disease and leukocyte adhesion deficiency. (17133097)
2007
23
Treatment of McLeod phenotype chronic granulomatous disease with reduced-intensity conditioning and unrelated-donor umbilical cord blood transplantation. (17261504)
2007
24
Hazards of early BCG vaccination: BCGitis in a patient with chronic granulomatous disease. (17532851)
2007
25
Advances in the treatment of Chronic Granulomatous Disease by gene therapy. (17584034)
2007
26
Invasive aspergillosis in chronic granulomatous disease: report of 7 cases. (16804696)
2007
27
Malakoplakia of colon in a child with celiac disease and chronic granulomatous disease. (16877840)
2006
28
Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. (16249245)
2006
29
Burkholderia cenocepacia induces neutrophil necrosis in chronic granulomatous disease. (15749893)
2005
30
Granulocyte transfusions in children with chronic granulomatous disease and invasive aspergillosis. (15828925)
2005
31
Association of glucose-6-phosphate dehydrogenase deficiency and X-linked chronic granulomatous disease in a child with anemia and recurrent infections. (14978696)
2004
32
Chronic granulomatous disease caused by a deficiency in p47(phox) mimicking Crohn's disease. (15290662)
2004
33
Williams syndrome associated with Crohn disease, multiple infections, and chronic granulomatous disease. (15371121)
2004
34
Long-term high-level reconstitution of NADPH oxidase activity in murine X-linked chronic granulomatous disease using a bicistronic vector expressing gp91phox and a Delta LNGFR cell surface marker. (12804147)
2003
35
Itraconazole to prevent fungal infections in chronic granulomatous disease. (12802027)
2003
36
A second case of somatic triple mosaicism in the CYBB gene causing chronic granulomatous disease. (11511930)
2001
37
Accelerated calcium influx and hyperactivation of neutrophils in chronic granulomatous disease. (11207656)
2001
38
Molecular analysis of 9 new families with chronic granulomatous disease caused by mutations in CYBA, the gene encoding p22(phox). (10910929)
2000
39
Elf-1 and PU.1 induce expression of gp91(phox) via a promoter element mutated in a subset of chronic granulomatous disease patients. (10233904)
1999
40
Eosinophilic pneumonia as a presentation of occult chronic granulomatous disease. (9311521)
1997
41
Treatment of intractable gastrointestinal manifestations of chronic granulomatous disease with cyclosporine. (7815206)
1995
42
A new mutation in exon 12 of the gp91-phox gene leading to cytochrome b-positive X-linked chronic granulomatous disease. (7756659)
1995
43
Treatment of patients with chronic granulomatous disease with recombinant human interferon-gamma does not improve neutrophil oxidative metabolism, cytochrome b558 content or levels of four anti-microbial proteins. (1572085)
1992
44
Retroviral expression of recombinant p47phox protein by Epstein-Barr virus-transformed B lymphocytes from a patient with autosomal chronic granulomatous disease. (1313715)
1992
45
Interferon-gamma in the management of chronic granulomatous disease. (1962114)
1991
46
Kinetics of transfused neutrophils in peripheral blood and BAL fluid of a patient with variant X-linked chronic granulomatous disease. (1954982)
1991
47
Gene deletion in a patient with chronic granulomatous disease and McLeod syndrome: fine mapping of the Xk gene locus. (3334897)
1988
48
Discoid lupus erythematosus and X-linked chronic granulomatous disease. (3809020)
1986
49
Concomitant pulmonary aspergillosis and nocardiosis in a patient with chronic granulomatous disease of childhood. (6701605)
1984
50
Discoid lupus erythematosus and carrier status of X-linked chronic granulomatous disease. (6653847)
1983

Variations for Chronic Granulomatous Disease

About this section

Clinvar genetic disease variations for Chronic Granulomatous Disease:

7 (show all 49)
id Gene Variation Type Significance SNP ID Assembly Location
1CYBBNM_000397.3(CYBB): c.625C> T (p.His209Tyr)single nucleotide variantPathogenicrs137854587GRCh37Chr X, 37655345: 37655345
2CYBBNM_000397.3(CYBB): c.217C> T (p.Arg73Ter)single nucleotide variantPathogenicrs137854588GRCh37Chr X, 37642818: 37642818
3CYBBNM_000397.3(CYBB): c.911C> G (p.Pro304Arg)single nucleotide variantPathogenicrs137854596GRCh37Chr X, 37663143: 37663143
4CYBBCYBB, EX12DELdeletionPathogenic
5CYBBNM_000397.3(CYBB): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs137854592GRCh37Chr X, 37658209: 37658209
6CYBBCYBB, IVS3, G-A, +5single nucleotide variantPathogenic
7CYBBNM_000397.3(CYBB): c.1499A> G (p.Asp500Gly)single nucleotide variantPathogenicrs137854593GRCh37Chr X, 37668857: 37668857
8CYBBNM_000397.3(CYBB): c.252G> A (p.Ala84=)single nucleotide variantPathogenicrs387906485GRCh37Chr X, 37642853: 37642853
9CYBBCYBB, IN5, L1 INSinsertionPathogenic
10CYBBCYBB, 252G-Asingle nucleotide variantPathogenic
11CYBBCYBB, IVS5, G-T, +978single nucleotide variantPathogenic
12CYBBCYBB, EX4, L1 INSinsertionPathogenic
13CYBBCYBB, IVS1, T-C, +6single nucleotide variantPathogenic
14CYBBNM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter)indelPathogenicrs387906486GRCh37Chr X, 37641385: 37641387
15NCF2NCF2, 2-BP INS, 399AGinsertionPathogenic
16NCF2NM_000433.3(NCF2): c.479A> T (p.Asp160Val)single nucleotide variantPathogenicrs267606912GRCh37Chr 1, 183543644: 183543644
17NCF2NCF2, 304C-Tsingle nucleotide variantPathogenic
18NCF2NCF2, 5-BP DEL, NT1169deletionPathogenic
19NCF2NCF2, IVS4DS, G-A, +1single nucleotide variantPathogenic
20NCF2NM_000433.3(NCF2): c.298C> T (p.Gln100Ter)single nucleotide variantPathogenicrs119103276GRCh37Chr 1, 183546802: 183546802
21NCF2NCF2, 9-BP DEL, NT55deletionPathogenic
22NCF2NM_000433.3(NCF2): c.383C> T (p.Ala128Val)single nucleotide variantPathogenicrs119103274GRCh37Chr 1, 183543740: 183543740
23NCF2NM_000433.3(NCF2): c.230G> A (p.Arg77Gln)single nucleotide variantPathogenicrs119103275GRCh37Chr 1, 183556057: 183556057
24NCF2NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp)single nucleotide variantPathogenicrs13306575GRCh37Chr 1, 183532437: 183532437
25NCF1NM_000265.5(NCF1): c.75_76delGT (p.Tyr26Hisfs)deletionPathogenicrs273585651GRCh37Chr 7, 74191615: 74191616
26NCF1NCF1, 1-BP DEL, 502GdeletionPathogenic
27NCF1NM_000265.5(NCF1): c.125G> A (p.Arg42Gln)single nucleotide variantPathogenicrs119103270GRCh37Chr 7, 74191665: 74191665
28NCF1NCF1, 1-BP DEL, NT811deletionPathogenic
29NCF1NM_000265.5(NCF1): c.271C> T (p.Gln91Ter)single nucleotide variantPathogenicrs119103271GRCh37Chr 7, 74193644: 74193644
30NCF1NM_000265.5(NCF1): c.333T> A (p.Cys111Ter)single nucleotide variantPathogenicrs119103272GRCh37Chr 7, 74193706: 74193706
31NCF1NM_000265.5(NCF1): c.574G> A (p.Gly192Ser)single nucleotide variantPathogenicrs119103273GRCh37Chr 7, 74197404: 74197404
32CYBAnsv513777deletionPathogenic
33CYBACYBA, 1-BP DEL, 272CdeletionPathogenic
34CYBANM_000101.3(CYBA): c.269G> A (p.Arg90Gln)single nucleotide variantPathogenicrs104894513GRCh37Chr 16, 88713181: 88713181
35CYBANM_000101.3(CYBA): c.354C> A (p.Ser118Arg)single nucleotide variantPathogenicrs104894514GRCh37Chr 16, 88712539: 88712539
36CYBANM_000101.3(CYBA): c.467C> A (p.Pro156Gln)single nucleotide variantPathogenicrs104894515GRCh37Chr 16, 88709882: 88709882
37CYBANM_000101.3(CYBA): c.281A> G (p.His94Arg)single nucleotide variantPathogenicrs104894510GRCh37Chr 16, 88713169: 88713169
38CYBACYBA, IVS4DS, G-A, +1single nucleotide variantPathogenic
39CYBANM_000101.3(CYBA): c.7C> T (p.Gln3Ter)single nucleotide variantPathogenicrs104894511GRCh37Chr 16, 88717415: 88717415
40CYBANM_000101.3(CYBA): c.70G> A (p.Gly24Arg)single nucleotide variantPathogenicrs28941476GRCh37Chr 16, 88714511: 88714511
41CYBACYBA, 36-BP DELdeletionPathogenic
42CYBANM_000101.3(CYBA): c.373G> A (p.Ala125Thr)single nucleotide variantPathogenicrs119103269GRCh37Chr 16, 88709976: 88709976
43NCF4NCF4, 10-BP DUP, NT3957duplicationPathogenic
44NCF4NM_013416.3(NCF4): c.314G> A (p.Arg105Gln)single nucleotide variantPathogenicrs387906808GRCh37Chr 22, 37263476: 37263476
45CYBBNM_000397.3(CYBB): c.1140dupG (p.Lys381Glufs)duplicationLikely pathogenicrs193922445GRCh37Chr X, 37663372: 37663373
46CYBBNM_000397.3(CYBB): c.15delT (p.Val6Terfs)deletionLikely pathogenicrs193922446GRCh37Chr X, 37639345: 37639345
47CYBBNM_000397.3(CYBB): c.1601T> A (p.Val534Asp)single nucleotide variantLikely pathogenicrs151344478GRCh37Chr X, 37670058: 37670058
48CYBBNM_000397.3(CYBB): c.389G> C (p.Arg130Pro)single nucleotide variantLikely pathogenicrs193922448GRCh37Chr X, 37652969: 37652969
49CYBBNM_000397.3(CYBB): c.607G> T (p.Glu203Ter)single nucleotide variantLikely pathogenicrs193922449GRCh37Chr X, 37655327: 37655327

Expression for genes affiliated with Chronic Granulomatous Disease

About this section

Search GEO for disease gene expression data for Chronic Granulomatous Disease.

Pathways for genes affiliated with Chronic Granulomatous Disease

About this section

Pathways related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 20)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.0CYBA, NCF4
29.8NCF2, NCF1, NCF4
39.7IFNG, CXCL1
49.6CYBB, CYBA, NCF1, NCF2
5
Show member pathways
9.6CYBB, CYBA, NCF1, NCF2
6
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes60
9.6NCF2, NCF1, CYBA, CYBB
7
Show member pathways
9.6CYBB, CYBA, NCF4, NCF2
8
Show member pathways
9.4CYBB, CYBA, NCF4, NCF1, NCF2
9
Show member pathways
9.3NCF1, CCR1, CXCL1
10
Show member pathways
9.3CYBA, IFNG, NCF4, NCF1, NCF2
11
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
9.3CYBB, CYBA, IFNG, NCF4, NCF2
129.2CYBB, CYBA, STX11, NCF4, NCF2
13
Show member pathways
RAC1 signaling pathway38
9.0CYBB, CYBA, NCF1, NCF2, NOX1
148.7CYBB, CYBA, NCF4, NCF1, NCF2, NOX1
158.5LTBR, NOX1, IFNG, CYBB
168.4NOX1, CYBB, CYBA, IFNG, NCF4, NCF1
178.4CYBB, CYBA, CORO1A, NCF4, NCF1, NCF2
18
Show member pathways
8.4LTBR, IFNG, CCR1, CXCL1
19
Show member pathways
8.0CYBB, CXCL1, CCR1, NCF4, NCF1, NCF2
20
Show member pathways
7.8CYBB, CYBA, CXCL1, CCR1, NCF4, NCF1

Compounds for genes affiliated with Chronic Granulomatous Disease

About this section

Compounds related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 27)
idCompoundScoreTop Affiliating Genes
1hocl4510.2NCF2, CYBA
2fumarate45 1311.1IFNG, MT-CYB
3nitroblue tetrazolium4510.1CYBB, MT-CYB
4flavin459.9NCF2, CYBB, CYBA, MT-CYB
5nadh45 26 1311.8CYBB, CYBA, MT-CYB, NCF2
6arachidonic acid45 30 26 1312.8CYBB, NCF2, CYBA, NCF4
7histidine459.8CYBA, MT-CYB, CYBB
8phosphatidylinositol 3-phosphate459.7NCF2, NCF4
9butyrate459.6NCF2, IFNG, CCR1, CYBB
10fmlp459.6CXCL1, NCF2, NCF4, MT-CYB
11apocynin45 6110.6CYBB, CYBA, NCF2, NOX1
12ccl345 3010.5CCR1, IFNG, CXCL1
13diphenyleneiodonium459.5CYBA, CYBB, NCF2, NOX1
14heme30 26 1311.5MT-CYB, NOX1, CYBB, CYBA
15leucine459.4CORO1A, CCR1, MT-CYB, CYBB
16oligonucleotide459.3NCF4, NCF2, CYBB, CYBA, CXCL1
17h2o2459.2NCF2, CYBA, CYBB, NOX1, MT-CYB
18dexamethasone45 51 30 1312.0CCR1, CYBB, CYBA, IFNG, CXCL1
19oxygen45 2610.0NCF4, NOX1, CYBA, MT-CYB, NCF2, CYBB
20cycloheximide458.9CXCL1, CCR1, MT-CYB, IFNG
21rantes458.7CCR1, CXCL1, IFNG, LTBR
22tyrosine458.3NOX1, CCR1, CXCL1, CYBA, CYBB, NCF2
23serine458.2CYBB, LTBR, NCF4, MT-CYB, CCR1, CXCL1
24nitric oxide45 26 1310.1NOX1, NCF2, IFNG, MT-CYB, CCR1, CXCL1
25retinoic acid45 269.0CYBB, IFNG, CCR1, NCF2, CLEC11A, LTBR
26superoxide45 268.8CYBA, CLEC11A, CXCL1, CCR1, MT-CYB, NCF4
27nadph45 268.3CYBB, NOX1, NCF2, NCF1C, NCF1, NCF1B

GO Terms for genes affiliated with Chronic Granulomatous Disease

About this section

Cellular components related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1rough endoplasmic reticulumGO:000579110.0NCF1, CYBB
2phagolysosomeGO:00320109.9NCF2, NCF1, NCF4
3neuronal cell bodyGO:00430259.8NCF1, CYBA, CYBB
4phagocytic vesicle membraneGO:00306709.7CYBB, CYBA, CORO1A
5dendriteGO:00304259.5NCF1, CYBA, CYBB
6NADPH oxidase complexGO:00430208.9NOX1, CYBB, CYBA, NCF4, NCF1, NCF2

Biological processes related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

(show all 15)
idNameGO IDScoreTop Affiliating Genes
1hydrogen peroxide biosynthetic processGO:00506659.9NCF1, CYBA, CYBB
2positive regulation of T cell proliferationGO:00421029.9CORO1A, IFNG
3interaction with hostGO:00517019.6CYBB, CYBA, NCF4, NCF1, NCF2
4phagosome maturationGO:00903829.6NCF2, NCF1, NCF4, CYBA, CYBB
5antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:00024799.6CYBB, CYBA, NCF4, NCF1, NCF2
6antigen processing and presentation of exogenous peptide antigen via MHC class IGO:00425909.6CYBB, CYBA, NCF4, NCF1, NCF2
7antigen processing and presentation of peptide antigen via MHC class IGO:00024749.5CYBB, CYBA, NCF4, NCF1, NCF2
8positive regulation of osteoclast differentiationGO:00456729.5IFNG, CCR1
9response to drugGO:00424939.4CYBB, CYBA, IFNG, NCF2
10innate immune responseGO:00450879.3CYBB, CYBA, CORO1A, NCF1, NCF2
11respiratory burstGO:00457309.3NOX1, NCF2, NCF1, CYBA, CYBB
12superoxide anion generationGO:00425549.3CYBB, CYBA, NCF1, NCF2, NOX1
13superoxide metabolic processGO:00068019.3NOX1, NCF2, NCF1, CYBA, CYBB
14oxidation-reduction processGO:00551149.1CYBB, CYBA, NCF4, NCF1, NOX1
15inflammatory responseGO:00069548.4CYBB, CYBA, CXCL1, CCR1, NCF1, NOX1

Molecular functions related to Chronic Granulomatous Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Rac GTPase bindingGO:00483659.6NOX1, NCF2
2electron carrier activityGO:00090559.6CYBB, CYBA, NCF1, NCF2
3phosphatidylinositol bindingGO:00350919.0NCF1C, NCF1, NCF1B
4superoxide-generating NADPH oxidase activityGO:00161758.3NOX1, NCF1C, NCF1, NCF1B, CYBA, CYBB
5protein bindingGO:00055156.1CYBB, CYBA, STX11, CCR1, XK, CORO1A

Products for genes affiliated with Chronic Granulomatous Disease

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chronic Granulomatous Disease

About this section
4CDC
15ExPASy
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet