CGD
MCID: CHR012
MIFTS: 67

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 74 24 52 25 58 36 29 6 15 37 71
Granulomatous Disease, Chronic 52 25 43 39
Cgd 12 24 25 58
Autosomal Recessive Chronic Granulomatous Disease 25 71
X-Linked Chronic Granulomatous Disease 25 71
Granulomatous Disease, Chronic, X-Linked 71
Chronic Granulomatous Disorder 74
Chronic Septic Granulomatosis 58
Granulomatous Disease Chronic 54
Congenital Dysphagocytosis 12
Bridges-Good Syndrome 12
Quie Syndrome 12

Characteristics:

Orphanet epidemiological data:

58
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:

Orphanet: 58  
Rare eye diseases
Rare gastroenterological diseases
Rare respiratory diseases
Rare skin diseases
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:3265
KEGG 36 H00098
MeSH 43 D006105
NCIt 49 C26788
SNOMED-CT 67 11210002
ICD10 32 D71
MESH via Orphanet 44 D006105
ICD10 via Orphanet 33 D71
UMLS via Orphanet 72 C0018203
Orphanet 58 ORPHA379
UMLS 71 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 i and granulomatous disease, chronic, autosomal recessive, cytochrome b-negative. 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 Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and lung, and related phenotypes are hepatomegaly and recurrent respiratory infections

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 : 52 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 : 36 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 : 74 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 388)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 34.6 NCF2 NCF1 CYBB CYBA
2 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 34.4 NOX1 NCF4 NCF2 NCF1 CYBB CYBA
3 granulomatous disease, chronic, x-linked 34.3 XK NCF4 NCF2 NCF1 MT-CYB MECOM
4 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 34.0 NCF4 NCF1
5 myeloperoxidase deficiency 33.2 MPO CAT
6 suppurative lymphadenitis 31.2 NCF2 NCF1 CYBB
7 immune deficiency disease 31.0 RAC2 NCF2 IFNG CYBB CSF2
8 cellulitis 30.9 NCF4 NCF2 NCF1 CYBB CYBA
9 lung abscess 30.7 NCF2 IFNG
10 aphthous stomatitis 30.7 IFNG CSF2 CAT
11 gastroenteritis 30.6 IFNG CSF2 CAT
12 candida glabrata 30.6 IFNG CSF2
13 pancytopenia 30.5 MPO MECOM IFNG CSF2
14 granulocytopenia 30.4 MPO CSF2
15 hypereosinophilic syndrome 30.3 MPO IFNG CSF2
16 severe congenital neutropenia 30.2 RAC2 MPO CSF2
17 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 12.4
18 mcleod syndrome 12.2
19 granulomatous disease, chronic, autosomal dominant type 11.9
20 peroxisome biogenesis disorder 8a 11.8
21 leukocyte adhesion deficiency, type i 11.5
22 46 xy gonadal dysgenesis 11.4
23 peroxisome biogenesis disorder 8b 11.2
24 aspergillosis 10.8
25 hyperlucent lung 10.7 XK IFNG
26 osteomyelitis 10.6
27 human t-cell leukemia virus type 2 10.6 IFNG CSF2
28 splenic disease 10.6 MT-CYB IFNG CSF2
29 cardiomyopathy, familial hypertrophic, 2 10.6 NOX5 CYBB CAT
30 plasmodium ovale malaria 10.6 MT-CYB G6PD
31 invasive aspergillosis 10.6
32 parasitic protozoa infectious disease 10.6 MT-CYB IFNG G6PD CSF2
33 asbestosis 10.6 MPO G6PD CAT
34 lymphadenitis 10.5
35 vernal conjunctivitis 10.5 MPO IFNG
36 bacterial infectious disease 10.5
37 monocytic leukemia 10.5 MPO IFNG CSF2
38 lingual-facial-buccal dyskinesia 10.5 XK KEL
39 primary bacterial infectious disease 10.5 IFNG CSF2 CAT
40 vascular disease 10.5 NOX1 MPO IFNG CYBB CAT
41 inflammatory bowel disease 10.5
42 colitis 10.5
43 blood group incompatibility 10.5 KEL G6PD
44 graft-versus-host disease 10.5
45 dendritic cell tumor 10.5 MPO IFNG
46 lupus erythematosus 10.5
47 crohn's disease 10.4
48 pneumonia 10.4
49 hypertension, essential 10.4 NOX5 NOX1 NCF2 NCF1 MPO IFNG
50 malaria 10.4 MT-CYB MPO IFNG G6PD CYBB CSF2

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:

58 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hepatomegaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0002240
2 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
3 malabsorption 58 31 hallmark (90%) Very frequent (99-80%) HP:0002024
4 fever 58 31 hallmark (90%) Very frequent (99-80%) HP:0001945
5 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
6 hypermelanotic macule 58 31 hallmark (90%) Very frequent (99-80%) HP:0001034
7 sinusitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000246
8 tracheoesophageal fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0002575
9 chronic obstructive pulmonary disease 58 31 hallmark (90%) Very frequent (99-80%) HP:0006510
10 otitis media 58 31 hallmark (90%) Very frequent (99-80%) HP:0000388
11 pyloric stenosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0002021
12 abnormality of neutrophils 58 31 hallmark (90%) Very frequent (99-80%) HP:0001874
13 mediastinal lymphadenopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100721
14 splenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001744
15 skin ulcer 58 31 occasional (7.5%) Occasional (29-5%) HP:0200042
16 gingivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000230
17 meningitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001287
18 sepsis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100806
19 eczema 58 31 occasional (7.5%) Occasional (29-5%) HP:0000964
20 liver abscess 58 31 occasional (7.5%) Occasional (29-5%) HP:0100523
21 inflammatory abnormality of the eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0100533
22 macule 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.11 CSF2 CYBA CYBB G6PD IFNG KEL
2 cellular MP:0005384 10.1 CAT CLEC11A CSF2 CYBA CYBB G6PD
3 hematopoietic system MP:0005397 10.1 CLEC11A CSF2 CYBA CYBB G6PD IFNG
4 homeostasis/metabolism MP:0005376 10.09 CAT CLEC11A CSF2 CYBA CYBB CYBC1
5 immune system MP:0005387 9.7 CSF2 CYBA CYBB IFNG MECOM MPO
6 muscle MP:0005369 9.23 CYBB IFNG KEL MECOM MPO NCF1

Drugs & Therapeutics for Chronic Granulomatous Disease

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

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Lenograstim Approved, Investigational Phase 4 135968-09-1
4
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
5
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
6 Immunologic Factors Phase 4
7 Hormone Antagonists Phase 4
8 Hormones Phase 4
9 Anti-Inflammatory Agents Phase 4
10 glucocorticoids Phase 4
11 Gastrointestinal Agents Phase 4
12 Antiemetics Phase 4
13 Autonomic Agents Phase 4
14 Antineoplastic Agents, Hormonal Phase 4
15 HIV Protease Inhibitors Phase 4
16
protease inhibitors Phase 4
17 BB 1101 Phase 4
18 Adjuvants, Immunologic Phase 4
19 Antiviral Agents Phase 4
20 Anti-Infective Agents Phase 4
21 interferons Phase 4
22 Interferon-gamma Phase 4
23 Vitamin B3 Phase 4
24 Nicotinic Acids Phase 4
25
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
26
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
27
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
28
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3 67-97-0 6221 5280795
29
Calcium Approved, Nutraceutical Phase 2, Phase 3 7440-70-2 271
30 Antiparasitic Agents Phase 3
31 Antiprotozoal Agents Phase 3
32 Micronutrients Phase 2, Phase 3
33 Trace Elements Phase 2, Phase 3
34 Antitubercular Agents Phase 2, Phase 3
35 Nutrients Phase 2, Phase 3
36 Vitamin D2 Phase 2, Phase 3
37 Ergocalciferols Phase 2, Phase 3
38 Calcium, Dietary Phase 2, Phase 3
39 Calciferol Phase 2, Phase 3
40 Vitamins Phase 2, Phase 3
41
Ibuprofen Approved Phase 2 15687-27-1 3672
42
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
43
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
44
Melphalan Approved Phase 2 148-82-3 4053 460612
45
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
46
leucovorin Approved Phase 2 58-05-9 6006 143
47
Mycophenolic acid Approved Phase 2 24280-93-1 446541
48
Thiotepa Approved, Investigational Phase 2 52-24-4 5453
49
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
50
Hydroxyurea Approved Phase 2 127-07-1 3657

Interventional clinical trials:

(show top 50) (show all 78)
# 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 Collection of Granulocytes by Apheresis of Healthy Donors Stimulated With Filgrastim (G-CSF) and Dexamethasone Recruiting NCT01553214 Phase 4 Filgrastim;Dexamethasone
3 Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
4 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
5 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care Completed NCT00023192 Phase 3 T-Cell Depleted & CD34+Select/w/StemCell Enriched Product
6 Effect of Vitamin D3 Supplementation on Chronic Granulomatous Disease Patients With BCGosis/Itis Recruiting NCT03984890 Phase 2, Phase 3 Vitamin D3;Traditional treatment of CGD and TB
7 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
8 A Phase I/II Gene Therapy Trial for X-CGD With a SIN Gammaretroviral Vector Unknown status NCT01906541 Phase 1, Phase 2
9 Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD) Unknown status NCT01338675 Phase 1, Phase 2 Busulfan
10 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
11 Phase I/II Gene Therapy Study for X-linked Chronic Granulomatous Disease in Children Completed NCT00927134 Phase 1, Phase 2
12 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2 itraconazole
13 Investigation of POsaconazole Prophylaxis in Children With Chronic Granulomatous Disease (CGD): Pharmacokinetics and Tolerability (iPOD) Completed NCT00799071 Phase 2 posaconazole (PSZ)
14 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
15 HLA Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Completed NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
16 Reduced-Intensity Conditioning for Children and Adults With Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (RICHI) (BMT CTN #1204) Completed NCT01998633 Phase 2
17 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
18 Endothelial Dysfunction and Oxidative Stress in Children With Sleep Disordered Breathing. Completed NCT02247167 Phase 1, Phase 2
19 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
20 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
21 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
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 IV;Sirolimus;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 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 Active, not recruiting NCT02234934 Phase 1, Phase 2
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 Efficacy and Safety of Pioglitazone Therapy for Chronic Granulomatous Disease Patients With Severe Infection. Terminated NCT03080480 Phase 1, Phase 2 Pioglitazone
33 Haploidentical Transplant for Patients With Chronic Granulomatous Disease (CGD) Using Post-Transplant Cyclophosphamide Terminated NCT02282904 Phase 1, Phase 2 Sirolimus;Cyclophosphamide post transplant;Cyclophosphamide;Fludarabine;Busulfan
34 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
35 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
36 Phase I/II Gene Therapy Protocol for X-Linked Chronic Granulomatous Disease Withdrawn NCT01381003 Phase 1, Phase 2
37 Effect of Interferon-gamma 1-b on Innate Immune Cells Completed NCT02609932 Phase 1 Administration of drug (Interferon-gamma 1-b) subcutaneously
38 Low Intensity Preparative Regimen Followed by HLA-Matched, Mobilized Peripheral Blood Stem Cell Transplantation for Chronic Granulomatous Disease Completed NCT00001765 Phase 1
39 Gene Therapy Approach for Chronic Granulomatous Disease Completed NCT00001476 Phase 1 Gene Therapy Method for CGD
40 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
41 Secondary Transplantation Using Moderate Dose Busulfan as Conditioning for a Patient With Partial Reconstitution Post Initial Allogeneic Transplantation Completed NCT00092937 Phase 1 Busulfan
42 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
43 Radiofrequency Ablation (RFA) for the Treatment of Liver Abscesses in Patients With Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1
44 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
45 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
46 Chronic Granulomatous Disease Study in China Unknown status NCT02231996
47 Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease Completed NCT02233036
48 Cognitive Function in Leukocyte Disorders Completed NCT00005933
49 Genetic Disorders of Mucociliary Clearance Completed NCT00368446
50 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

Search NIH Clinical Center for Chronic Granulomatous Disease

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:

40
Neutrophil, Bone, Lung, Bone Marrow, Skin, Liver, Monocytes

Publications for Chronic Granulomatous Disease

Articles related to Chronic Granulomatous Disease:

(show top 50) (show all 3534)
# 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. 54 61 24 6
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. 61 24 6
19692703 2009
3
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease. 61 24 6
9329953 1997
4
Mutations in the X-linked and autosomal recessive forms of chronic granulomatous disease. 61 24 6
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. 54 61 6
15338276 2004
6
An unusual intronic mutation in the CYBB gene giving rise to chronic granulomatous disease. 54 61 6
11566256 2001
7
The PX domains of p47phox and p40phox bind to lipid products of PI(3)K. 54 61 6
11433300 2001
8
A new exon created by intronic insertion of a rearranged LINE-1 element as the cause of chronic granulomatous disease. 54 61 6
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. 54 61 6
10828042 2000
10
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 54 61 6
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. 54 61 6
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. 54 61 6
10598813 1999
13
X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. 54 61 6
9585602 1998
14
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 54 61 6
9070911 1997
15
Identification of mutations in seven Chinese patients with X-linked chronic granulomatous disease. 54 61 6
8916969 1996
16
AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein. 54 61 6
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. 54 61 6
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). 54 61 6
1415254 1992
19
Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. 54 61 6
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. 54 61 6
2243141 1990
21
Chronic Granulomatous Disease 61 6
22876374 2012
22
Alu-repeat-induced deletions within the NCF2 gene causing p67-phox-deficient chronic granulomatous disease (CGD). 54 61 24
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. 54 61 24
18774749 2008
24
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 61 6
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. 54 61 24
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. 54 61 24
17384005 2007
27
Insights into extensive deletions around the XK locus associated with McLeod phenotype and characterization of two novel cases. 54 61 24
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. 61 6
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. 54 61 24
14697745 2003
30
Evidence consistent with human L1 retrotransposition in maternal meiosis I. 61 6
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. 61 6
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. 61 6
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. 61 6
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. 61 6
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. 61 6
10498624 1999
36
Disturbed interaction of p21-rac with mutated p67-phox causes chronic granulomatous disease. 54 61 24
8879195 1996
37
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. 61 6
7678602 1993
38
Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. 61 6
1438069 1992
39
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. 61 6
1763037 1991
40
Chronic granulomatous disease presenting in a 69-year-old man. 61 6
1719419 1991
41
Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. 61 6
2011585 1991
42
Molecular genetics of chronic granulomatous disease. 61 6
2523713 1989
43
Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. 61 6
2838754 1988
44
Activation of neutrophil NADPH oxidase in a cell-free system. Partial purification of components and characterization of the activation process. 61 6
3571224 1987
45
Quantitative nitroblue tetrazolium test in chronic granulomatous disease. 61 6
4384563 1968
46
An Update on the Use of Immunomodulators in Primary Immunodeficiencies. 61 52
27873163 2017
47
Subcutaneous abscess due to the basidiomycete Phellinus mori in a patient with chronic granulomatous disease. 61 24
25600930 2015
48
Common severe infections in chronic granulomatous disease. 61 24
25537876 2015
49
Clinical and molecular findings of chronic granulomatous disease in Oman: family studies. 61 24
24446915 2015
50
Dual-regulated lentiviral vector for gene therapy of X-linked chronic granulomatosis. 61 24
24869932 2014

Variations for Chronic Granulomatous Disease

ClinVar genetic disease variations for Chronic Granulomatous Disease:

6 (show top 50) (show all 68) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CYBA NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)SNV Pathogenic 2260 rs104894515 16:88709882-88709882 16:88643474-88643474
2 CYBB NM_000397.3(CYBB):c.692A>C (p.Gln231Pro)SNV Pathogenic 29969 rs151344498 X:37658225-37658225 X:37798972-37798972
3 CYBB NM_000397.3(CYBB):c.532A>C (p.Thr178Pro)SNV Pathogenic 29970 rs151344497 X:37655252-37655252 X:37795999-37795999
4 NCF4 NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)SNV Pathogenic 30194 rs387906808 22:37263476-37263476 22:36867434-36867434
5 NCF4 NM_000631.5(NCF4):c.143_152dup (p.Lys52fs)duplication Pathogenic 222998 rs869025585 22:37260985-37260986 22:36864943-36864944
6 NCF2 NM_000433.3(NCF2):c.1001-10T>GSNV Conflicting interpretations of pathogenicity 256114 rs36113295 1:183533175-183533175 1:183564040-183564040
7 NCF4 NM_000631.5(NCF4):c.628-14C>ASNV Conflicting interpretations of pathogenicity 260305 rs56071149 22:37271681-37271681 22:36875639-36875639
8 NCF2 NM_000433.3(NCF2):c.1552G>C (p.Asp518His)SNV Conflicting interpretations of pathogenicity 294073 rs143901397 1:183525282-183525282 1:183556147-183556147
9 NCF2 NM_000433.3(NCF2):c.1360C>T (p.Pro454Ser)SNV Conflicting interpretations of pathogenicity 294076 rs55761650 1:183529339-183529339 1:183560204-183560204
10 NCF2 NM_000433.3(NCF2):c.1157G>A (p.Arg386Gln)SNV Conflicting interpretations of pathogenicity 294081 rs147908264 1:183532590-183532590 1:183563455-183563455
11 NCF2 NM_000433.3(NCF2):c.563G>A (p.Arg188Lys)SNV Conflicting interpretations of pathogenicity 294084 rs115365142 1:183542366-183542366 1:183573231-183573231
12 NCF2 NM_000433.3(NCF2):c.174+8G>CSNV Conflicting interpretations of pathogenicity 294086 rs34009795 1:183559283-183559283 1:183590148-183590148
13 NCF2 NM_000433.3(NCF2):c.1184G>A (p.Arg395Gln)SNV Conflicting interpretations of pathogenicity 294080 rs145229115 1:183532436-183532436 1:183563301-183563301
14 NCF4 NM_000631.5(NCF4):c.240T>C (p.Ser80=)SNV Conflicting interpretations of pathogenicity 341550 rs35431748 22:37261083-37261083 22:36865041-36865041
15 NCF4 NM_000631.5(NCF4):c.33-6G>ASNV Conflicting interpretations of pathogenicity 341547 rs200865261 22:37260081-37260081 22:36864039-36864039
16 NCF4 NM_000631.5(NCF4):c.271+6C>TSNV Conflicting interpretations of pathogenicity 341552 rs200052796 22:37261120-37261120 22:36865078-36865078
17 NCF4 NM_000631.5(NCF4):c.478G>A (p.Val160Met)SNV Conflicting interpretations of pathogenicity 341554 rs150103256 22:37267701-37267701 22:36871659-36871659
18 NCF4 NM_000631.5(NCF4):c.647C>T (p.Thr216Met)SNV Uncertain significance 341555 rs146911421 22:37271714-37271714 22:36875672-36875672
19 NCF4 NM_000631.5(NCF4):c.733T>C (p.Tyr245His)SNV Uncertain significance 341557 rs886057488 22:37271800-37271800 22:36875758-36875758
20 NCF4 NM_000631.5(NCF4):c.923G>A (p.Arg308Gln)SNV Uncertain significance 341560 rs141160114 22:37273768-37273768 22:36877726-36877726
21 NCF4 NM_000631.5(NCF4):c.934G>T (p.Gly312Cys)SNV Uncertain significance 341561 rs199618052 22:37273779-37273779 22:36877737-36877737
22 NCF4 NM_000631.5(NCF4):c.*171A>TSNV Uncertain significance 341566 rs886057489 22:37274036-37274036 22:36877994-36877994
23 NCF4 NM_000631.5(NCF4):c.*172A>CSNV Uncertain significance 341567 rs529161346 22:37274037-37274037 22:36877995-36877995
24 NCF4 NM_000631.5(NCF4):c.28G>A (p.Glu10Lys)SNV Uncertain significance 341546 rs756372095 22:37257241-37257241 22:36861199-36861199
25 NCF4 NM_000631.5(NCF4):c.180C>T (p.Arg60=)SNV Uncertain significance 341549 rs762003847 22:37261023-37261023 22:36864981-36864981
26 NCF4 NM_000631.5(NCF4):c.442C>T (p.Arg148Cys)SNV Uncertain significance 341553 rs770577417 22:37266556-37266556 22:36870514-36870514
27 NCF4 NM_000631.5(NCF4):c.*23T>CSNV Uncertain significance 341565 rs755408986 22:37273888-37273888 22:36877846-36877846
28 NCF4 NM_000631.5(NCF4):c.825G>T (p.Arg275Ser)SNV Uncertain significance 341558 rs145005349 22:37273670-37273670 22:36877628-36877628
29 NCF4 NM_000631.5(NCF4):c.270A>T (p.Pro90=)SNV Uncertain significance 341551 rs370754874 22:37261113-37261113 22:36865071-36865071
30 NCF4 NM_000631.5(NCF4):c.655T>C (p.Phe219Leu)SNV Uncertain significance 341556 rs761212596 22:37271722-37271722 22:36875680-36875680
31 NCF4 NM_000631.5(NCF4):c.826C>T (p.Arg276Trp)SNV Uncertain significance 341559 rs200598824 22:37273671-37273671 22:36877629-36877629
32 NCF4 NM_000631.5(NCF4):c.940C>A (p.Pro314Thr)SNV Uncertain significance 341562 rs199686562 22:37273785-37273785 22:36877743-36877743
33 NCF4 NM_000631.5(NCF4):c.-114C>TSNV Uncertain significance 341543 rs886057487 22:37257100-37257100 22:36861058-36861058
34 NCF2 NM_000433.3(NCF2):c.*445A>CSNV Uncertain significance 294065 rs886045647 1:183524808-183524808 1:183555673-183555673
35 NCF2 NM_000433.3(NCF2):c.*393deldeletion Uncertain significance 294069 rs771465757 1:183524860-183524860 1:183555725-183555725
36 NCF2 NM_001127651.3(NCF2):c.*264_*265AG[2]short repeat Uncertain significance 294070 rs886045650 1:183524984-183524985 1:183555849-183555850
37 NCF2 NM_000433.3(NCF2):c.1385T>G (p.Val462Gly)SNV Uncertain significance 294075 rs886045652 1:183529314-183529314 1:183560179-183560179
38 NCF2 NM_000433.3(NCF2):c.1336G>T (p.Asp446Tyr)SNV Uncertain significance 294077 rs886045653 1:183529363-183529363 1:183560228-183560228
39 NCF2 NM_000433.3(NCF2):c.1291-15C>GSNV Uncertain significance 294078 rs886045654 1:183529423-183529423 1:183560288-183560288
40 NCF2 NM_000433.3(NCF2):c.707T>C (p.Ile236Thr)SNV Uncertain significance 294083 rs764405660 1:183538283-183538283 1:183569148-183569148
41 NCF2 NM_000433.3(NCF2):c.1247A>G (p.Gln416Arg)SNV Uncertain significance 294079 rs886045655 1:183532373-183532373 1:183563238-183563238
42 NCF2 NM_000433.3(NCF2):c.1498A>G (p.Lys500Glu)SNV Uncertain significance 294074 rs886045651 1:183525336-183525336 1:183556201-183556201
43 NCF2 NM_000433.3(NCF2):c.1084G>A (p.Val362Ile)SNV Uncertain significance 294082 rs886045656 1:183532663-183532663 1:183563528-183563528
44 NCF2 NM_000433.3(NCF2):c.443C>T (p.Thr148Met)SNV Uncertain significance 294085 rs764142541 1:183543680-183543680 1:183574545-183574545
45 NCF2 NM_001127651.3(NCF2):c.*539_*542GTTT[1]short repeat Uncertain significance 294061 rs376681445 1:183524707-183524710 1:183555572-183555575
46 NCF2 NM_000433.3(NCF2):c.*397_*398insTCAinsertion Uncertain significance 294067 rs886045648 1:183524855-183524856 1:183555720-183555721
47 NCF2 NM_000433.3(NCF2):c.*393dupduplication Uncertain significance 294068 rs771465757 1:183524859-183524860 1:183555724-183555725
48 NCF2 NM_000433.3(NCF2):c.*262C>TSNV Uncertain significance 294071 rs201050705 1:183524991-183524991 1:183555856-183555856
49 NCF2 NM_000433.3(NCF2):c.*97A>CSNV Uncertain significance 294072 rs367946786 1:183525156-183525156 1:183556021-183556021
50 NCF2 NM_000433.3(NCF2):c.*517dupduplication Uncertain significance 294062 rs573207861 1:183524735-183524736 1:183555600-183555601

Copy number variations for Chronic Granulomatous Disease from CNVD:

7
# CNVD ID Chromosome 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:

36
# 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 20)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.27 RAC2 NOX1 NCF4 NCF2 NCF1 CYBB
2
Show member pathways
13.18 RAC2 NOX5 NOX1 NCF4 NCF2 NCF1
3
Show member pathways
13.06 NOX5 NCF4 NCF2 NCF1 CYBB CYBA
4
Show member pathways
12.93 RAC2 NOX1 NCF4 NCF2 NCF1 CYBB
5
Show member pathways
12.56 RAC2 NCF4 NCF2 NCF1 CYBB CYBA
6 12.49 NCF4 NCF1 MPO MECOM IFNG
7
Show member pathways
12.4 NCF4 NCF2 NCF1 CYBB CYBA
8
Show member pathways
12.39 NCF4 NCF2 NCF1 CYBB CYBA
9
Show member pathways
12.27 RAC2 NOX1 NCF2 NCF1 CYBB CYBA
10
Show member pathways
12.25 RAC2 NCF2 NCF1 CYBB CYBA
11
Show member pathways
12.16 NCF4 NCF2 NCF1 IFNG CYBB CYBA
12 12.03 NCF4 NCF2 NCF1 MPO CYBB CYBA
13 11.96 RAC2 NCF2 NCF1 CYBB CYBA
14 11.94 RAC2 NOX1 NCF2 NCF1 IFNG CYBA
15 11.84 NOX1 NCF4 NCF2 NCF1 IFNG CYBA
16 11.83 MPO IFNG CSF2
17
Show member pathways
11.6 RAC2 NCF4 NCF2 NCF1 CYBB CYBA
18
Show member pathways
11.24 NOX5 NCF4 NCF2 NCF1 CYBB CYBA
19 11.09 RAC2 NCF4 CYBA
20 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 cell GO:0005623 9.85 XK RAC2 NOX1 NCF4 NCF2 NCF1
2 phagocytic vesicle membrane GO:0030670 9.43 RAC2 CYBB CYBA
3 perinuclear endoplasmic reticulum GO:0097038 9.32 CYBB CYBA
4 NADPH oxidase complex GO:0043020 9.23 NOX5 NOX1 NCF4 NCF2 NCF1C NCF1
5 phagolysosome GO:0032010 9.13 NCF4 NCF2 NCF1

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.1 NOX5 NOX1 NCF4 NCF2 NCF1C NCF1
2 innate immune response GO:0045087 9.99 NCF2 NCF1 CYBC1 CYBB CYBA
3 positive regulation of cell proliferation GO:0008284 9.98 RAC2 NOX1 IFNG CSF2 CLEC11A
4 response to drug GO:0042493 9.91 MT-CYB CYBB CYBA CAT
5 cell redox homeostasis GO:0045454 9.91 RAC2 NCF4 NCF2 NCF1 MPO CYBB
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.83 NCF4 NCF2 NCF1 CYBB CYBA
7 defense response GO:0006952 9.81 NOX5 NOX1 MPO CYBB
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.8 NCF4 NCF2 NCF1 CYBB CYBA
9 response to ethanol GO:0045471 9.79 MT-CYB G6PD CAT
10 electron transport chain GO:0022900 9.76 NCF2 NCF1 CYBB CYBA
11 cellular response to oxidative stress GO:0034599 9.76 NOX5 NCF4 NCF2 NCF1 G6PD CYBB
12 positive regulation of catalytic activity GO:0043085 9.75 NCF4 NCF2 NCF1C
13 superoxide metabolic process GO:0006801 9.73 NCF4 NCF2 NCF1C NCF1 CYBB CYBA
14 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.62 IFNG CYBB
15 response to hyperoxia GO:0055093 9.6 MT-CYB CAT
16 NADP metabolic process GO:0006739 9.57 NOX1 G6PD
17 hydrogen peroxide biosynthetic process GO:0050665 9.56 CYBB CYBA
18 positive regulation of interleukin-23 production GO:0032747 9.55 IFNG CSF2
19 regulation of axon diameter GO:0031133 9.54 XK KEL
20 cellular magnesium ion homeostasis GO:0010961 9.52 XK KEL
21 cellular response to L-glutamine GO:1904845 9.49 CYBB CYBA
22 response to aldosterone GO:1904044 9.48 CYBB CYBA
23 superoxide anion generation GO:0042554 9.43 NOX5 NOX1 NCF2 NCF1 CYBB CYBA
24 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 9.86 NOX5 NOX1 MT-CYB MPO G6PD CYBB
2 heme binding GO:0020037 9.77 NOX5 MPO CYBB CYBA CAT
3 NADP binding GO:0050661 9.62 NOX5 NOX1 G6PD CAT
4 phosphatidylinositol binding GO:0035091 9.58 NCF4 NCF1C NCF1
5 electron transfer activity GO:0009055 9.55 NCF2 NCF1 MT-CYB CYBB CYBA
6 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF4 NCF2 NCF1C NCF1
7 superoxide-generating NADPH oxidase activity GO:0016175 9.17 NOX5 NOX1 NCF2 NCF1C NCF1 CYBB

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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