CGD
MCID: CHR012
MIFTS: 69

Chronic Granulomatous Disease (CGD)

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Chronic Granulomatous Disease

MalaCards integrated aliases for Chronic Granulomatous Disease:

Name: Chronic Granulomatous Disease 12 75 24 53 25 59 37 29 6 15 38 72
Granulomatous Disease, Chronic 53 25 44 40
Cgd 12 24 25 59
Autosomal Recessive Chronic Granulomatous Disease 25 72
X-Linked Chronic Granulomatous Disease 25 72
Granulomatous Disease, Chronic, X-Linked 72
Chronic Granulomatous Disorder 75
Chronic Septic Granulomatosis 59
Granulomatous Disease Chronic 55
Congenital Dysphagocytosis 12
Bridges-Good Syndrome 12
Quie Syndrome 12

Characteristics:

Orphanet epidemiological data:

59
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;

Classifications:



External Ids:

Disease Ontology 12 DOID:3265
KEGG 37 H00098
MeSH 44 D006105
NCIt 50 C26788
SNOMED-CT 68 11210002
ICD10 33 D71
MESH via Orphanet 45 D006105
ICD10 via Orphanet 34 D71
UMLS via Orphanet 73 C0018203
Orphanet 59 ORPHA379
UMLS 72 C0018203 C1844376 C3661525 more

Summaries for Chronic Granulomatous Disease

Genetics Home Reference : 25 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 from foreign invaders such as bacteria and fungi. Individuals with chronic granulomatous disease may have recurrent bacterial and fungal infections. People with this condition may also have areas of inflammation (granulomas) in various tissues that can result in damage 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. People with chronic granulomatous disease typically have at least one serious bacterial or fungal infection every 3 to 4 years. The lungs are the most frequent area of infection; pneumonia is a common feature of this condition. Individuals with chronic granulomatous disease may develop a type of fungal pneumonia, called mulch pneumonitis, which causes fever and shortness of breath after exposure to decaying organic materials such as mulch, hay, or dead leaves. Exposure to these organic materials and the numerous fungi involved in their decomposition causes people with chronic granulomatous disease to develop fungal infections in their lungs. Other common areas of infection in people with chronic granulomatous disease include the skin, liver, and lymph nodes. Inflammation can occur in many different areas of the body in people with chronic granulomatous disease. Most commonly, granulomas occur in the gastrointestinal tract and the genitourinary tract. In many cases the intestinal wall is inflamed, causing a form of inflammatory bowel disease that varies in severity but can lead to stomach pain, diarrhea, bloody stool, nausea, and vomiting. Other common areas of inflammation in people with chronic granulomatous disease include the stomach, colon, and rectum, as well as the mouth, throat, and skin. Additionally, granulomas within the gastrointestinal tract can lead to tissue breakdown and pus production (abscesses). Inflammation in the stomach can prevent food from passing through to the intestines (gastric outlet obstruction), leading to an inability to digest food. These digestive problems cause vomiting after eating and weight loss. In the genitourinary tract, inflammation can occur in the kidneys and bladder. Inflammation of the lymph nodes (lymphadenitis) and bone marrow (osteomyelitis), which both produce immune cells, can lead to further impairment of the immune system. Rarely, people with chronic granulomatous disease develop autoimmune disorders, which occur when the immune system malfunctions and attacks the body's own tissues and organs. Repeated episodes of infection and inflammation reduce the life expectancy of individuals with chronic granulomatous disease; however, with treatment, most affected individuals live into mid- to late adulthood.

MalaCards based summary : Chronic Granulomatous Disease, also known as granulomatous disease, chronic, is related to granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii and granulomatous disease, chronic, x-linked. An important gene associated with Chronic Granulomatous Disease is CYBB (Cytochrome B-245 Beta Chain), and among its related pathways/superpathways are Fc gamma R-mediated phagocytosis and Integrin Pathway. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and bone marrow, and related phenotypes are recurrent respiratory infections and hepatomegaly

Disease Ontology : 12 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.

NIH Rare Diseases : 53 Chronic granulomatous disease (CGD) is a rare, inherited immunodeficiency that affects certain white blood cells. People with 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. The only cure for the disease is an allogeneic hematopoietic stem cell transplantation (HSCT).

KEGG : 37
Chronic granulomatous disease (CGD) is characterized by impaired activation of the NADPH oxidase activity in phagocytic cells, resulting in the inability of these cells to generate toxic oxygen radicals and hence to kill catalase-positive bacteria. The NADPH oxidase is composed of four polypeptide subunits and mutations in the corresponding genes (gp91phox, p22phox, p47phox, and p67phox) are responsible for the four different genetic subgroups of CGD. Most cases (65%) involve mutations in gp91phox and are inherited in an X-linked recessive manner. The remainder are autosomal recessive (AR).

Wikipedia : 75 Chronic granulomatous disease (CGD) (also known as Bridges-Good syndrome, chronic granulomatous... more...

GeneReviews: NBK99496

Related Diseases for Chronic Granulomatous Disease

Diseases in the Chronic Granulomatous Disease family:

Granulomatous Disease, Chronic, Autosomal Dominant Type

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

(show top 50) (show all 384)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 34.4 NCF2 NCF1 CYBB CYBA
2 granulomatous disease, chronic, x-linked 33.6 XK NCF2 NCF1 MT-CYB KEL CYBB
3 myeloperoxidase deficiency 33.0 MPO CAT
4 bacterial infectious disease 31.4 IL1B IFNG CSF2
5 suppurative lymphadenitis 30.9 IFNG CYBB
6 mucormycosis 30.9 IFNG CSF2
7 sarcoidosis 1 30.9 IL1B IFNG CSF2
8 cellulitis 30.8 NCF2 NCF1 CYBB CYBA
9 trichosporonosis 30.7 IFNG CSF2
10 proteasome-associated autoinflammatory syndrome 1 30.3 MPO IL1B IFNG
11 acquired immunodeficiency syndrome 30.3 IL1B IFNG CSF2
12 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 12.4
13 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 12.4
14 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 12.3
15 mcleod syndrome 12.2
16 granulomatous disease, chronic, autosomal dominant type 11.9
17 peroxisome biogenesis disorder 8a 11.8
18 leukocyte adhesion deficiency, type i 11.5
19 46 xy gonadal dysgenesis 11.4
20 peroxisome biogenesis disorder 8b 11.2
21 aspergillosis 10.8
22 staphylococcal toxic shock syndrome 10.7 IL1B IFNG
23 large granular lymphocyte leukemia 10.7 IFNG CSF2
24 osteomyelitis 10.6
25 hematopoietic stem cell transplantation 10.6
26 urogenital tuberculosis 10.6 NCF4 CAT
27 invasive aspergillosis 10.6
28 lymphadenitis 10.5
29 parasitic protozoa infectious disease 10.5 MT-CYB IL1B IFNG
30 inflammatory bowel disease 10.5
31 monocytic leukemia 10.5 IL1B IFNG CSF2
32 colitis 10.5
33 toxic optic neuropathy 10.5 IL1B CAT
34 graft-versus-host disease 10.5
35 lupus erythematosus 10.4
36 crohn's disease 10.4
37 pneumonia 10.4
38 discoid lupus erythematosus 10.4
39 respiratory system disease 10.3 MPO IL1B IFNG CSF2
40 cystitis 10.3
41 acatalasemia 10.3 MT-CYB CAT
42 autoimmune disease 10.3
43 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.3
44 immune deficiency disease 10.3
45 neutropenia 10.3
46 diarrhea 10.3
47 exanthem 10.2
48 respiratory failure 10.2
49 nocardiosis 10.2
50 acute graft versus host disease 10.2

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



Diseases related to Chronic Granulomatous Disease

Symptoms & Phenotypes for Chronic Granulomatous Disease

Human phenotypes related to Chronic Granulomatous Disease:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 59 32 hallmark (90%) Very frequent (99-80%) HP:0002205
2 hepatomegaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0002240
3 malabsorption 59 32 hallmark (90%) Very frequent (99-80%) HP:0002024
4 fever 59 32 hallmark (90%) Very frequent (99-80%) HP:0001945
5 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
6 hypermelanotic macule 59 32 hallmark (90%) Very frequent (99-80%) HP:0001034
7 sinusitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000246
8 tracheoesophageal fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0002575
9 chronic obstructive pulmonary disease 59 32 hallmark (90%) Very frequent (99-80%) HP:0006510
10 otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000388
11 pyloric stenosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0002021
12 abnormality of neutrophils 59 32 hallmark (90%) Very frequent (99-80%) HP:0001874
13 mediastinal lymphadenopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100721
14 splenomegaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0001744
15 skin ulcer 59 32 occasional (7.5%) Occasional (29-5%) HP:0200042
16 gingivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000230
17 meningitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001287
18 sepsis 59 32 occasional (7.5%) Occasional (29-5%) HP:0100806
19 eczema 59 32 occasional (7.5%) Occasional (29-5%) HP:0000964
20 liver abscess 59 32 occasional (7.5%) Occasional (29-5%) HP:0100523
21 inflammatory abnormality of the eye 59 32 occasional (7.5%) Occasional (29-5%) HP:0100533
22 macule 59 Very frequent (99-80%)

MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

46 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 CAT CLEC11A CSF2 CYBA CYBB CYBC1
2 hematopoietic system MP:0005397 10.31 CLEC11A CSF2 CYBA CYBB IFNG IL1B
3 cardiovascular system MP:0005385 10.26 CSF2 CYBA CYBB IFNG IL1B KEL
4 cellular MP:0005384 10.23 CAT CLEC11A CSF2 CYBA CYBB IFNG
5 immune system MP:0005387 10.18 CSF2 CYBA CYBB IFNG IL1B MECOM
6 mortality/aging MP:0010768 10.1 CAT CSF2 CYBB IFNG IL1B MECOM
7 adipose tissue MP:0005375 10.04 CLEC11A CSF2 CYBA CYBB CYBC1 MECOM
8 muscle MP:0005369 9.86 CYBB IFNG KEL MECOM MPO NCF1
9 neoplasm MP:0002006 9.63 CAT CSF2 CYBB IFNG IL1B MECOM
10 respiratory system MP:0005388 9.5 CSF2 CYBA IFNG MECOM NCF1 NCF2
11 skeleton MP:0005390 9.28 CLEC11A CSF2 CYBA CYBC1 IFNG IL1B

Drugs & Therapeutics for Chronic Granulomatous Disease

Drugs for Chronic Granulomatous Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
3 Anti-Infective Agents Phase 4
4 interferons Phase 4
5 Antiviral Agents Phase 4
6 Interferon-gamma Phase 4
7 Vitamin B3 Phase 4
8 Nicotinic Acids Phase 4
9
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
10
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 5280795
11
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
12
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
13
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
14 Antiparasitic Agents Phase 3
15 Antiprotozoal Agents Phase 3
16 Micronutrients Phase 2, Phase 3
17 Vitamins Phase 2, Phase 3
18 Antitubercular Agents Phase 2, Phase 3
19 Nutrients Phase 2, Phase 3
20 Vitamin D2 Phase 2, Phase 3
21 Trace Elements Phase 2, Phase 3
22 Ergocalciferols Phase 2, Phase 3
23 Calciferol Phase 2, Phase 3
24 Calcium, Dietary Phase 2, Phase 3
25 Bone Density Conservation Agents Phase 2, Phase 3
26
Ibuprofen Approved Phase 2 15687-27-1 3672
27
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
28
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
29
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
30
Melphalan Approved Phase 2 148-82-3 460612 4053
31
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
32
leucovorin Approved Phase 2 58-05-9 143 6006
33
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
34
Mycophenolic acid Approved Phase 2 24280-93-1 446541
35
Vidarabine Approved, Investigational Phase 2 24356-66-9 21704 32326
36
Hydroxyurea Approved Phase 2 127-07-1 3657
37
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492 6473866
38
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 6436030 5284616 46835353
39
tannic acid Approved Phase 1, Phase 2 1401-55-4
40
Everolimus Approved Phase 1, Phase 2 159351-69-6 6442177 70789204
41
Benzocaine Approved, Investigational Phase 1, Phase 2 94-09-7, 1994-09-7 2337
42
Busulfan Approved, Investigational Phase 2 55-98-1 2478
43
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
44
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
45
alemtuzumab Approved, Investigational Phase 2 216503-57-0
46
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
47
Infliximab Approved Phase 1, Phase 2 170277-31-3
48
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
49
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
50
Treosulfan Investigational Phase 2 299-75-2 9296

Interventional clinical trials:

(show top 50) (show all 76)
# Name Status NCT ID Phase Drugs
1 A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood Completed NCT00001317 Phase 4 interferon-gamma
2 Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
3 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
4 Effect of Vitamin D3 Supplementation on Chronic Granulomatous Disease Patients With BCGosis/Itis Not yet recruiting NCT03984890 Phase 2, Phase 3 Vitamin D3;Traditional treatment of CGD and TB
5 Phase I/II Gene Therapy Study for X-Linked Chronic Granulomatous Disease Unknown status NCT00564759 Phase 1, Phase 2 retroviral SF71-gp91phox transduced CD34+ cells
6 Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD) Unknown status NCT01338675 Phase 1, Phase 2 Busulfan
7 A Multicentric, Exploratory, Non-randomised, Non-controlled, Prospective, Open-label Phase II Study Evaluating Safety and Efficacy of IBU, G-CSF and Plerixafor as Stem Cell Mobilization Regimen in Patients Affected by X-CGD Unknown status NCT03055247 Phase 2 Ibuprofen;Myelostim;Mozobil
8 Phase I/II Gene Therapy Study for X-linked Chronic Granulomatous Disease in Children Completed NCT00927134 Phase 1, Phase 2
9 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2 itraconazole
10 Investigation of POsaconazole Prophylaxis in Children With Chronic Granulomatous Disease (CGD): Pharmacokinetics and Tolerability (iPOD) Completed NCT00799071 Phase 2 posaconazole (PSZ)
11 HLA Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Completed NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
12 HLA-Matched, Peripheral Blood Stem Cell Transplantation Using Low Intensity Conditioning to Treat Patients With Chronic Granulomatous Disease Who Are Actively Infected Completed NCT00006417 Phase 2
13 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
14 Phase I/II Trial Of Hematopoietic Stem Cell Transplant (HSCT) For Children With A Genetic Disease Of Blood Cells Without An HLA-Matched Sibling Donor Completed NCT00730314 Phase 1, Phase 2
15 Endothelial Dysfunction and Oxidative Stress in Children With Sleep Disordered Breathing. Completed NCT02247167 Phase 1, Phase 2
16 A Phase I/II Gene Therapy Trial for X-CGD With a SIN Gammaretroviral Vector Recruiting NCT01906541 Phase 1, Phase 2
17 A Phase I/II, Non Randomized, Multicenter, Open-label Study of Autologous CD34+ Cells Transduced With the G1XCGD Lentiviral Vector in Patients With X-linked Chronic Granulomatous Disease Recruiting NCT01855685 Phase 1, Phase 2
18 A Phase I/II, Non Randomized, Monocentric Open-label Study of Autologous CD34+ Cells Transduced With the G1XCGD Lentiviral Vector in Patients With X-Linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
19 A Phase I/II, Non Randomized, Multicenter, Open-Label Study of G1XCGD (Lentiviral Vector Transduced CD34+ Cells) in Patients With X-Linked Chronic Granulomatous Disease Recruiting NCT02234934 Phase 1, Phase 2
20 A Clinical Trial of Plerixafor With G-CSF as Additional Agents in Conditioning Regimen for Prevention of Graft Failure in Patients With Chronic Granulomatous Disease Recruiting NCT03547830 Phase 2 Plerixafor;Gcsf
21 Efficacy and Safety of Pioglitazone Therapy for Chronic Granulomatous Disease Patients With Severe Infection. Recruiting NCT03080480 Phase 1, Phase 2 Pioglitazone
22 High Dose Peripheral Blood Stem Cell Transplantation With Post Transplant Cyclophosphamide for Patients With Chronic Granulomatous Disease Recruiting NCT02629120 Phase 1, Phase 2 Campath;Busulfan;cyclophosphamide
23 A Study of Hematopoietic Stem Cell Transplantation (HSCT) in Immune Function Disorders Using a Reduced Intensity Preparatory Regime Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
24 PEDS024, Phase I/II Feasibility Study of Busulfan Fludarabine and Thiotepa Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation (HSCT) for Children With Non-Malignant Disorders Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
25 A Phase II Trial of Haploidentical Allogeneic Stem Cell Transplantation Utilizing Mobilized Peripheral Blood Stem Cells Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
26 A Phase II Study of Reduced Intensity Conditioning in Pediatric Patients and Young Adults ≤40 Years of Age With Non-Malignant Disorders Undergoing Umbilical Cord Blood, Bone Marrow, or Peripheral Blood Stem Cell Transplantation Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
27 Allogeneic Hematopoietic Cell Transplantation for Patients With Nonmalignant Inherited Disorders Using a Treosulfan Based Preparative Regimen Recruiting NCT00919503 Phase 2 Cyclosporine;Fludarabine Phosphate;Methotrexate;Mycophenolate Mofetil;Tacrolimus;Treosulfan
28 An Open-label, Uncontrolled, Single Center, Phase I/II Trial to Assess the Safety and Efficacy of Autologous Hematopoietic Stem Cells Transduced With MT-gp91 Retroviral Vector in gp91 Defective Chronic Granulomatous Disease Patients Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
29 Haploidentical Transplant for Patients With Chronic Granulomatous Disease (CGD) Using Post-Transplant Cyclophosphamide Active, not recruiting NCT02282904 Phase 1, Phase 2 Sirolimus;Cyclophosphamide post transplant;Cyclophosphamide;Fludarabine;Busulfan
30 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
31 Elemental Diet for Treatment of Inflammatory Bowel Disease in Patients With Chronic Granulomatous Disease Not yet recruiting NCT03983837 Phase 2
32 Tumor Necrosis Factor Alpha Inhibitor (Lnfliximab, Adalimumab) Treatment for Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease: A Phase I/II Study Assessing Clinical and Immune Responses to Treatment and Genetic Influences Terminated NCT00325078 Phase 1, Phase 2 Infliximab
33 Protocol for Related Donor Hematopoietic Stem Cell Transplantation (HSCT) for Treatment of Symptomatic Genetic Lymphohematological Diseases Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
34 Phase I/II Gene Therapy Protocol for X-Linked Chronic Granulomatous Disease Withdrawn NCT01381003 Phase 1, Phase 2
35 Effect of Interferon-gamma 1-b on Innate Immune Cells Completed NCT02609932 Phase 1 Administration of drug (Interferon-gamma 1-b) subcutaneously
36 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Chronic Granulomatous Disease Completed NCT00001765 Phase 1
37 Gene Therapy Approach for Chronic Granulomatous Disease Completed NCT00001476 Phase 1 Gene Therapy Method for CGD
38 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
39 Secondary Transplantation Using Moderate Dose Busulfan as Conditioning for a Patient With Partial Reconstitution Post Initial Allogeneic Transplantation Completed NCT00092937 Phase 1 Busulfan
40 A Study of Adjuvant Cytokine Therapy in Pulmonary Mycobacterium Avium Complex and Other Pulmonary Nontuberculous Mycobacterial Infections Completed NCT00111397 Phase 1 Interferon Gamma, GM-CSF
41 Radiofrequency Ablation (RFA) for the Treatment of Liver Abscesses in Patients With Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1
42 Collection of Granulocytes by Apheresis of Healthy Donors Stimulated With Filgrastim (G-CSF) and Dexamethasone Recruiting NCT01553214 Phase 1 Filgrastim (G-CSF);Dexamethasone
43 Abatacept for Post-Transplant Immune Suppression in Children and Adolescents Receiving Allogeneic Hematopoietic Stem Cell Transplants for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
44 A Study Evaluating BPX-501 T Cells and AP1903 for Prevention of Graft Versus Host Disease (GVHD) After Haploidentical, Related, T Cell-Depleted Hematopoietic Cell Transplantation for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
45 Chronic Granulomatous Disease Study in China Unknown status NCT02231996
46 Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease Completed NCT02233036
47 Cognitive Function in Leukocyte Disorders Completed NCT00005933
48 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
49 Study of Total Body Irradiation and Fludarabine Followed By Allogeneic Peripheral Blood Stem Cell or Bone Marrow Transplantation in Combination With Cyclosporine and Mycophenolate Mofetil in Patients With Inherited Disorders Completed NCT00010361 cyclosporine;fludarabine;mycophenolate mofetil
50 Study of Gut Microbiota in Primary Immune Deficiencies, Possibly Associated With Inflammatory Bowel Disease (Chronic Granulomatous Disease, XIAP Gene Deficiency, or TTC7A Gene Deficiency) Completed NCT02909244

Search NIH Clinical Center for Chronic Granulomatous Disease

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Interferon gamma-1b

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
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) PMIDs: 10430905

Cochrane evidence based reviews: granulomatous disease, chronic

Genetic Tests for Chronic Granulomatous Disease

Genetic tests related to Chronic Granulomatous Disease:

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease 29

Anatomical Context for Chronic Granulomatous Disease

MalaCards organs/tissues related to Chronic Granulomatous Disease:

41
Neutrophil, Bone, Bone Marrow, Lung, Skin, Liver, Monocytes

Publications for Chronic Granulomatous Disease

Articles related to Chronic Granulomatous Disease:

(show top 50) (show all 3480)
# Title Authors PMID Year
1
Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. 9 38 4 71
15308575 2005
2
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. 38 4 71
19692703 2009
3
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease. 38 4 71
9329953 1997
4
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. 38 4 71
8634410 1996
5
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. 9 38 71
15338276 2004
6
An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease. 9 38 71
11566256 2001
7
The PX domains of p47phox and p40phox bind to lipid products of PI(3)K. 9 38 71
11433300 2001
8
A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease. 9 38 71
10980575 2000
9
Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation. 9 38 71
10828042 2000
10
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 9 38 71
10914676 2000
11
Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. 9 38 71
10759707 2000
12
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. 9 38 71
10598813 1999
13
X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. 9 38 71
9585602 1998
14
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 9 38 71
9070911 1997
15
Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. 9 38 71
8916969 1996
16
AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein. 9 38 71
7795241 1995
17
A point mutation in gp91-phox of cytochrome b558 of the human NADPH oxidase leading to defective translocation of the cytosolic proteins p47-phox and p67-phox. 9 38 71
8182143 1994
18
Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). 9 38 71
1415254 1992
19
Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. 9 38 71
1710153 1991
20
Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. 9 38 71
2243141 1990
21
Chronic Granulomatous Disease 38 71
22876374 2012
22
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). 9 38 4
19953534 2010
23
X-linked chronic granulomatous disease secondary to skewed X chromosome inactivation in a female with a novel CYBB mutation and late presentation. 9 38 4
18774749 2008
24
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 38 71
18422995 2008
25
Adult onset X-linked chronic granulomatous disease in a woman patient caused by a de novo mutation in paternal-origin CYBB gene and skewed inactivation of normal maternal X chromosome. 9 38 4
18520120 2008
26
Chronic granulomatous disease (CGD) and complete myeloperoxidase deficiency both yield strongly reduced dihydrorhodamine 123 test signals but can be easily discerned in routine testing for CGD. 9 38 4
17384005 2007
27
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases. 9 38 4
17300882 2007
28
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase. 38 71
16972229 2006
29
Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation. 9 38 4
14697745 2003
30
Evidence consistent with human L1 retrotransposition in maternal meiosis I. 38 71
12094329 2002
31
A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. 38 71
12073015 2002
32
Molecular and functional characterization of a new X-linked chronic granulomatous disease variant (X91+) case with a double missense mutation in the cytosolic gp91phox C-terminal tail. 38 71
11997083 2002
33
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. 38 71
11133775 2001
34
Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. 38 71
10706888 2000
35
Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. 38 71
10498624 1999
36
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease. 9 38 4
8879195 1996
37
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. 38 71
7678602 1993
38
Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. 38 71
1438069 1992
39
Chronic granulomatous disease presenting in a 69-year-old man. 38 71
1719419 1991
40
Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. 38 71
1763037 1991
41
Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. 38 71
2011585 1991
42
Molecular genetics of chronic granulomatous disease. 38 71
2523713 1989
43
Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. 38 71
2838754 1988
44
Activation of neutrophil NADPH oxidase in a cell-free system. Partial purification of components and characterization of the activation process. 38 71
3571224 1987
45
Quantitative nitroblue tetrazolium test in chronic granulomatous disease. 38 71
4384563 1968
46
An Update on the Use of Immunomodulators in Primary Immunodeficiencies. 38 6
27873163 2017
47
Subcutaneous abscess due to the basidiomycete Phellinus mori in a patient with chronic granulomatous disease. 38 4
25600930 2015
48
Common severe infections in chronic granulomatous disease. 38 4
25537876 2015
49
Clinical and molecular findings of chronic granulomatous disease in Oman: family studies. 38 4
24446915 2015
50
Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis. 38 4
24869932 2014

Variations for Chronic Granulomatous Disease

ClinVar genetic disease variations for Chronic Granulomatous Disease:

6 (show top 50) (show all 68)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYBA NM_000101.4(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 16:88709882-88709882 16:88643474-88643474
2 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 X:37658225-37658225 X:37798972-37798972
3 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 X:37655252-37655252 X:37795999-37795999
4 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 22:37263476-37263476 22:36867434-36867434
5 NCF4 NM_013416.3(NCF4): c.143_152dup (p.Lys52fs) duplication Pathogenic rs869025585 22:37260986-37260995 22:36864944-36864953
6 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 1:183533175-183533175 1:183564040-183564040
7 NCF4 NM_013416.3(NCF4): c.628-14C> A single nucleotide variant Conflicting interpretations of pathogenicity rs56071149 22:37271681-37271681 22:36875639-36875639
8 NCF4 NM_013416.3(NCF4): c.478G> A (p.Val160Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150103256 22:37267701-37267701 22:36871659-36871659
9 NCF4 NM_013416.3(NCF4): c.271+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200052796 22:37261120-37261120 22:36865078-36865078
10 NCF2 NM_000433.3(NCF2): c.1552G> C (p.Asp518His) single nucleotide variant Conflicting interpretations of pathogenicity rs143901397 1:183525282-183525282 1:183556147-183556147
11 NCF2 NM_000433.3(NCF2): c.1360C> T (p.Pro454Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs55761650 1:183529339-183529339 1:183560204-183560204
12 NCF4 NM_013416.3(NCF4): c.240T> C (p.Ser80=) single nucleotide variant Conflicting interpretations of pathogenicity rs35431748 22:37261083-37261083 22:36865041-36865041
13 NCF2 NM_000433.3(NCF2): c.563G> A (p.Arg188Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs115365142 1:183542366-183542366 1:183573231-183573231
14 NCF2 NM_000433.3(NCF2): c.174+8G> C single nucleotide variant Conflicting interpretations of pathogenicity rs34009795 1:183559283-183559283 1:183590148-183590148
15 NCF4 NM_013416.3(NCF4): c.270A> T (p.Pro90=) single nucleotide variant Uncertain significance rs370754874 22:37261113-37261113 22:36865071-36865071
16 NCF4 NM_013416.3(NCF4): c.655T> C (p.Phe219Leu) single nucleotide variant Uncertain significance rs761212596 22:37271722-37271722 22:36875680-36875680
17 NCF4 NM_013416.3(NCF4): c.*24C> T single nucleotide variant Uncertain significance rs200598824 22:37273671-37273671 22:36877629-36877629
18 NCF4 NM_013416.3(NCF4): c.*138C> A single nucleotide variant Uncertain significance rs199686562 22:37273785-37273785 22:36877743-36877743
19 NCF2 NM_000433.3(NCF2): c.*445A> C single nucleotide variant Uncertain significance rs886045647 1:183524808-183524808 1:183555673-183555673
20 NCF2 NM_000433.3(NCF2): c.*393del deletion Uncertain significance rs771465757 1:183524860-183524860 1:183555725-183555725
21 NCF2 NM_000433.3(NCF2): c.*264_*265AG[2] short repeat Uncertain significance rs886045650 1:183524984-183524985 1:183555849-183555850
22 NCF2 NM_000433.3(NCF2): c.1385T> G (p.Val462Gly) single nucleotide variant Uncertain significance rs886045652 1:183529314-183529314 1:183560179-183560179
23 NCF2 NM_000433.3(NCF2): c.1336G> T (p.Asp446Tyr) single nucleotide variant Uncertain significance rs886045653 1:183529363-183529363 1:183560228-183560228
24 NCF2 NM_000433.3(NCF2): c.1184G> A (p.Arg395Gln) single nucleotide variant Uncertain significance rs145229115 1:183532436-183532436 1:183563301-183563301
25 NCF2 NM_000433.3(NCF2): c.1247A> G (p.Gln416Arg) single nucleotide variant Uncertain significance rs886045655 1:183532373-183532373 1:183563238-183563238
26 NCF2 NM_000433.3(NCF2): c.1157G> A (p.Arg386Gln) single nucleotide variant Uncertain significance rs147908264 1:183532590-183532590 1:183563455-183563455
27 NCF4 NM_013416.3(NCF4): c.442C> T (p.Arg148Cys) single nucleotide variant Uncertain significance rs770577417 22:37266556-37266556 22:36870514-36870514
28 NCF2 NM_000433.3(NCF2): c.1291-15C> G single nucleotide variant Uncertain significance rs886045654 1:183529423-183529423 1:183560288-183560288
29 NCF2 NM_000433.3(NCF2): c.707T> C (p.Ile236Thr) single nucleotide variant Uncertain significance rs764405660 1:183538283-183538283 1:183569148-183569148
30 NCF2 NM_000433.3(NCF2): c.1498A> G (p.Lys500Glu) single nucleotide variant Uncertain significance rs886045651 1:183525336-183525336 1:183556201-183556201
31 NCF2 NM_000433.3(NCF2): c.1084G> A (p.Val362Ile) single nucleotide variant Uncertain significance rs886045656 1:183532663-183532663 1:183563528-183563528
32 NCF2 NM_000433.3(NCF2): c.443C> T (p.Thr148Met) single nucleotide variant Uncertain significance rs764142541 1:183543680-183543680 1:183574545-183574545
33 NCF2 NM_000433.3(NCF2): c.*539_*542GTTT[1] short repeat Uncertain significance rs376681445 1:183524707-183524710 1:183555572-183555575
34 NCF2 NM_000433.3(NCF2): c.*397_*398insTCA insertion Uncertain significance rs886045648 1:183524855-183524856 1:183555720-183555721
35 NCF2 NM_000433.3(NCF2): c.*393dup duplication Uncertain significance rs771465757 1:183524860-183524860 1:183555725-183555725
36 NCF2 NM_000433.3(NCF2): c.*262C> T single nucleotide variant Uncertain significance rs201050705 1:183524991-183524991 1:183555856-183555856
37 NCF2 NM_000433.3(NCF2): c.*97A> C single nucleotide variant Uncertain significance rs367946786 1:183525156-183525156 1:183556021-183556021
38 NCF4 NM_013416.3(NCF4): c.*23G> T single nucleotide variant Uncertain significance rs145005349 22:37273670-37273670 22:36877628-36877628
39 NCF4 NM_013416.3(NCF4): c.*241T> C single nucleotide variant Uncertain significance rs755408986 22:37273888-37273888 22:36877846-36877846
40 NCF4 NM_013416.3(NCF4): c.647C> T (p.Thr216Met) single nucleotide variant Uncertain significance rs146911421 22:37271714-37271714 22:36875672-36875672
41 NCF4 NM_013416.3(NCF4): c.733T> C (p.Tyr245His) single nucleotide variant Uncertain significance rs886057488 22:37271800-37271800 22:36875758-36875758
42 NCF4 NM_013416.3(NCF4): c.*121G> A single nucleotide variant Uncertain significance rs141160114 22:37273768-37273768 22:36877726-36877726
43 NCF4 NM_013416.3(NCF4): c.*132G> T single nucleotide variant Uncertain significance rs199618052 22:37273779-37273779 22:36877737-36877737
44 NCF4 NM_013416.3(NCF4): c.-114C> T single nucleotide variant Uncertain significance rs886057487 22:37257100-37257100 22:36861058-36861058
45 NCF4 NM_013416.3(NCF4): c.33-6G> A single nucleotide variant Uncertain significance rs200865261 22:37260081-37260081 22:36864039-36864039
46 NCF4 NM_013416.3(NCF4): c.*389A> T single nucleotide variant Uncertain significance rs886057489 22:37274036-37274036 22:36877994-36877994
47 NCF4 NM_013416.3(NCF4): c.*390A> C single nucleotide variant Uncertain significance rs529161346 22:37274037-37274037 22:36877995-36877995
48 NCF4 NM_013416.3(NCF4): c.28G> A (p.Glu10Lys) single nucleotide variant Uncertain significance rs756372095 22:37257241-37257241 22:36861199-36861199
49 NCF4 NM_013416.3(NCF4): c.180C> T (p.Arg60=) single nucleotide variant Uncertain significance rs762003847 22:37261023-37261023 22:36864981-36864981
50 NCF2 NM_000433.3(NCF2): c.*517dup duplication Uncertain significance rs573207861 1:183524736-183524736 1:183555601-183555601

Copy number variations for Chronic Granulomatous Disease from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 227905 7 72200000 77500000 Copy number NCF1 Chronic granulomatous disease
2 262229 X 32167387 37878805 Deletion CYBB Chronic granulomatous disease
3 262230 X 32167387 37878805 Deletion DMD Chronic granulomatous disease
4 262231 X 32167387 37878805 Deletion DYNLT3 Chronic granulomatous disease
5 262232 X 32167387 37878805 Deletion XK Chronic granulomatous disease

Expression for Chronic Granulomatous Disease

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

Pathways for Chronic Granulomatous Disease

Pathways related to Chronic Granulomatous Disease according to KEGG:

37
# Name Kegg Source Accession
1 Fc gamma R-mediated phagocytosis hsa04666

Pathways related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

(show all 34)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.33 RAC2 NOX1 NCF4 NCF2 NCF1 CYBB
2
Show member pathways
13.2 RAC2 NOX1 NCF4 NCF2 NCF1 IL1B
3
Show member pathways
13.06 NCF4 NCF2 NCF1 CYBB CYBA CAT
4
Show member pathways
12.96 RAC2 NOX1 NCF4 NCF2 NCF1 CYBB
5
Show member pathways
12.6 RAC2 NCF4 NCF2 NCF1 CYBB CYBA
6 12.52 NCF4 NCF1 MPO MECOM IL1B IFNG
7
Show member pathways
12.44 NCF4 NCF2 NCF1 CYBB CYBA
8
Show member pathways
12.43 NCF4 NCF2 NCF1 CYBB CYBA
9
Show member pathways
12.3 RAC2 NOX1 NCF2 NCF1 CYBB CYBA
10
Show member pathways
12.29 RAC2 NCF2 NCF1 CYBB CYBA
11
Show member pathways
12.25 MPO IL1B IFNG CAT
12
Show member pathways
12.14 RAC2 NOX1 NCF4 NCF2 NCF1 IL1B
13
Show member pathways
12.14 NCF4 NCF2 NCF1 IL1B IFNG CYBB
14 12.06 NCF4 NCF2 NCF1 MPO CYBB CYBA
15 12 RAC2 NCF2 NCF1 CYBB CYBA
16 11.94 RAC2 NOX1 NCF2 NCF1 IL1B IFNG
17 11.9 MPO IFNG CSF2
18 11.83 NOX1 IL1B CYBB
19 11.83 IL1B IFNG CSF2
20
Show member pathways
11.81 RAC2 NCF4 NCF2 NCF1 CYBB CYBA
21 11.81 NOX1 NCF4 NCF2 NCF1 IL1B IFNG
22 11.78 IL1B IFNG CSF2
23 11.72 IL1B IFNG CSF2
24 11.67 IL1B IFNG CSF2
25 11.64 IL1B IFNG CSF2
26
Show member pathways
11.58 IL1B IFNG CSF2
27 11.34 IL1B IFNG CYBB
28 11.27 RAC2 NCF2 NCF1 CYBB CYBA
29 11.21 IL1B IFNG CSF2
30
Show member pathways
11.17 NCF4 NCF2 NCF1 CYBB CYBA CAT
31 11.12 RAC2 NCF4 CYBA
32 10.94 RAC2 NCF2 IL1B CSF2 CLEC11A
33 10.86 MPO IL1B
34 10.28 RAC2 NOX1 NCF4 NCF2 NCF1 CYBB

GO Terms for Chronic Granulomatous Disease

Cellular components related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 secretory granule GO:0030141 9.43 MPO IL1B CYBA
2 phagocytic vesicle membrane GO:0030670 9.33 RAC2 CYBB CYBA
3 NADPH oxidase complex GO:0043020 9.17 NOX1 NCF4 NCF2 NCF1C NCF1 CYBB
4 phagolysosome GO:0032010 9.13 NCF4 NCF2 NCF1

Biological processes related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.99 NCF2 NCF1 CYBC1 CYBB CYBA
2 oxidation-reduction process GO:0055114 9.96 NOX1 NCF4 NCF2 NCF1C NCF1 MT-CYB
3 positive regulation of cell proliferation GO:0008284 9.95 RAC2 NOX1 IL1B IFNG CSF2 CLEC11A
4 response to drug GO:0042493 9.8 MT-CYB CYBB CYBA CAT
5 positive regulation of catalytic activity GO:0043085 9.78 NCF4 NCF2 NCF1C
6 cellular response to oxidative stress GO:0034599 9.77 CYBB CYBA CAT
7 positive regulation of JNK cascade GO:0046330 9.76 NOX1 NCF1 IL1B
8 response to hypoxia GO:0001666 9.74 MT-CYB CYBA CAT
9 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.72 NCF4 NCF2 NCF1 CYBB CYBA
10 electron transport chain GO:0022900 9.67 NCF2 NCF1 CYBB CYBA
11 response to ethanol GO:0045471 9.62 MT-CYB CAT
12 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.62 IL1B IFNG
13 response to hyperoxia GO:0055093 9.61 MT-CYB CAT
14 hydrogen peroxide biosynthetic process GO:0050665 9.58 CYBB CYBA
15 superoxide anion generation GO:0042554 9.55 NOX1 NCF2 NCF1 CYBB CYBA
16 regulation of axon diameter GO:0031133 9.54 XK KEL
17 positive regulation of interleukin-23 production GO:0032747 9.52 IFNG CSF2
18 cellular magnesium ion homeostasis GO:0010961 9.51 XK KEL
19 response to aldosterone GO:1904044 9.46 CYBB CYBA
20 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.43 IL1B IFNG
21 superoxide metabolic process GO:0006801 9.43 NCF4 NCF2 NCF1C NCF1 CYBB CYBA
22 cellular response to L-glutamine GO:1904845 9.4 CYBB CYBA
23 response to ozone GO:0010193 9.26 CAT
24 response to L-ascorbic acid GO:0033591 9.25 CAT
25 respiratory burst GO:0045730 9.17 NOX1 NCF4 NCF2 NCF1C NCF1 CYBB

Molecular functions related to Chronic Granulomatous Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 NOX1 MT-CYB MPO CYBB CYBA CAT
2 heme binding GO:0020037 9.56 MPO CYBB CYBA CAT
3 electron transfer activity GO:0009055 9.55 NCF2 NCF1 MT-CYB CYBB CYBA
4 phosphatidylinositol binding GO:0035091 9.54 NCF4 NCF1C NCF1
5 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF4 NCF2 NCF1C NCF1
6 superoxide-generating NADPH oxidase activity GO:0016175 9.1 NOX1 NCF2 NCF1C NCF1 CYBB CYBA

Sources for Chronic Granulomatous Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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