CGD
MCID: CHR012
MIFTS: 65

Chronic Granulomatous Disease (CGD) malady

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

Aliases & Classifications for Chronic Granulomatous Disease

Aliases & Descriptions for Chronic Granulomatous Disease:

Name: Chronic Granulomatous Disease 38 12 23 50 24 25 56 14 69
Cgd 12 23 24 25 56
Granulomatous Disease, Chronic 50 25 29 42
Autosomal Recessive Chronic Granulomatous Disease 25 69
X-Linked Chronic Granulomatous Disease 25 69
Granulomatous Disease, Chronic, X-Linked 69
Chronic Granulomatous Disorder 71
Chronic Septic Granulomatosis 56
Granulomatous Disease Chronic 52
Congenital Dysphagocytosis 12
Bridges-Good Syndrome 12
Quie Syndrome 12

Characteristics:

Orphanet epidemiological data:

56
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
ICD10 33 D71
MeSH 42 D006105
NCIt 47 C26788
Orphanet 56 ORPHA379
MESH via Orphanet 43 D006105
UMLS via Orphanet 70 C0018203
ICD10 via Orphanet 34 D71
UMLS 69 C0018203

Summaries for Chronic Granulomatous Disease

NIH Rare Diseases : 50 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).  last updated: 11/18/2016

MalaCards based summary : Chronic Granulomatous Disease, also known as cgd, is related to eosinophilic cystitis and tularemia, and has symptoms including fever, splenomegaly and recurrent respiratory infections. An important gene associated with Chronic Granulomatous Disease is NCF4 (Neutrophil Cytosolic Factor 4), and among its related pathways/superpathways are Innate Immune System and PAK Pathway. The drugs Anti-Infective Agents and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and skin, and related phenotypes are hematopoietic system and homeostasis/metabolism

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.

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.

Wikipedia : 71 Chronic granulomatous disease (CGD) (also known as Bridges–Good syndrome, chronic granulomatous... more...

GeneReviews: NBK99496

Related Diseases for Chronic Granulomatous Disease

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

(show top 50) (show all 156)
id Related Disease Score Top Affiliating Genes
1 eosinophilic cystitis 29.8 CSF2 CSF3
2 tularemia 29.5 IFNG MT-CYB TLR9
3 chronic granulomatous disease, x-linked 12.3
4 chronic granulomatous disease, autosomal, due to deficiency of cyba 12.3
5 mcleod syndrome with or without chronic granulomatous disease 12.2
6 chronic granulomatous disease due to deficiency of ncf-1 12.1
7 chronic granulomatous disease due to deficiency of ncf-2 12.1
8 nr5a1-related 46,xy dsd and 46,xy cgd 11.7
9 sry-related 46,xy dsd and 46,xy cgd 11.7
10 wnt4-related 46,xy dsd and 46,xy cgd 11.7
11 cbx2-related 46,xy dsd and 46,xy cgd 11.7
12 dhh-related 46,xy dsd and 46,xy cgd 11.7
13 map3k1-related 46,xy dsd and 46,xy cgd 11.7
14 nr0b1-related 46,xy dsd and 46,xy cgd 11.7
15 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 11.7
16 mental retardation, x-linked, syndromic 17 10.2 CYBA CYBB NCF2 NCF4
17 parkinson disease 11 10.2 IFNG IL1B MPO
18 aspergillosis 10.2
19 osteomyelitis 10.2
20 anterior foramen magnum meningioma 10.2 CSF2 IFNG IL1B
21 aniridia 10.2 CAT HBG2 MT-CYB
22 grix blankenship peterson syndrome 10.2 CSF2 CSF3 MPO
23 bilateral retinoblastoma 10.2 CYBB DECR1 IFNG
24 pyoderma gangrenosum 10.1 CSF2 IFNG IL1B
25 hematopoietic stem cell transplantation 10.1
26 nasopharyngitis 10.1 IFNG IL1B TLR9
27 bare lymphocyte syndrome, type i 10.1 IFNG IL1B MPO
28 hallucinogen dependence 10.1 IFNG IL1B TLR9
29 acute chest syndrome 10.1 CSF2 IFNG IL1B MPO
30 colitis 10.1
31 hepatitis 10.1
32 uterine ligament clear cell adenocarcinoma 10.1 IFNG IL1B MPO
33 ovary epithelial cancer 10.1 CAT NCF4
34 lupus erythematosus 10.1
35 keratomalacia 10.1 IFNG IL1B RAC1
36 subcorneal pustular dermatosis 10.1 CSF2 IFNG IL1B MPO
37 foodborne botulism 10.1 IFNG IL1B TLR9
38 senile cataract 10.1 CSF2 CSF3 IL1B
39 spontaneous ocular nystagmus 10.1 CSF2 IL1B TLR9
40 syringomyelia 10.1 CYBA CYBB MT-CYB NCF1 NCF2 NCF4
41 stocco dos santos syndrome 10.1 IFNG IL1B
42 childhood malignant hemangiopericytoma 10.1 IFNG IL1B MPO TLR9
43 discoid lupus erythematosus 10.0
44 collagenous colitis 10.0 IFNG IL1B MPO TLR9
45 pulmonary eosinophilia 10.0 IFNG IL1B TLR9
46 invasive aspergillosis 10.0
47 pneumonia 10.0
48 aniseikonia 10.0 CSF2 CSF3 DECR1 IFNG
49 nonspecific interstitial pneumonia 10.0 DECR1 IFNG MT-CYB TLR9
50 tuberculosis 9.9

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:

56 32 (show all 22)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 56 32 Very frequent (99-80%) HP:0001945
2 splenomegaly 56 32 Occasional (29-5%) HP:0001744
3 recurrent respiratory infections 56 32 Very frequent (99-80%) HP:0002205
4 hepatomegaly 56 32 Very frequent (99-80%) HP:0002240
5 malabsorption 56 32 Very frequent (99-80%) HP:0002024
6 sinusitis 56 32 Very frequent (99-80%) HP:0000246
7 skin ulcer 56 32 Occasional (29-5%) HP:0200042
8 chronic obstructive pulmonary disease 56 32 Very frequent (99-80%) HP:0006510
9 gingivitis 56 32 Occasional (29-5%) HP:0000230
10 otitis media 56 32 Very frequent (99-80%) HP:0000388
11 meningitis 56 32 Occasional (29-5%) HP:0001287
12 sepsis 56 32 Occasional (29-5%) HP:0100806
13 eczema 56 32 Occasional (29-5%) HP:0000964
14 tracheoesophageal fistula 56 32 Very frequent (99-80%) HP:0002575
15 pyloric stenosis 56 32 Very frequent (99-80%) HP:0002021
16 cutaneous photosensitivity 56 32 Very frequent (99-80%) HP:0000992
17 hypermelanotic macule 56 32 Very frequent (99-80%) HP:0001034
18 abnormality of neutrophils 56 32 Very frequent (99-80%) HP:0001874
19 liver abscess 56 32 Occasional (29-5%) HP:0100523
20 inflammatory abnormality of the eye 56 32 Occasional (29-5%) HP:0100533
21 mediastinal lymphadenopathy 56 32 Very frequent (99-80%) HP:0100721
22 macule 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.93 CSF2 CSF3 CYBA CYBB IFNG IL1B
2 homeostasis/metabolism MP:0005376 9.8 MPO NCF1 NCF4 NOX1 RAC1 TLR9
3 immune system MP:0005387 9.4 NOX1 RAC1 TLR9 CSF2 CSF3 CYBA

Drugs & Therapeutics for Chronic Granulomatous Disease

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

(show top 50) (show all 104)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
2 Antiviral Agents Phase 4,Phase 2,Phase 1,Early Phase 1
3 Interferon-gamma Phase 4,Phase 1
4 interferons Phase 4,Phase 1
5
alemtuzumab Approved, Investigational Phase 3,Phase 2,Early Phase 1 216503-57-0
6
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Early Phase 1 22916-47-8 4189
7
Posaconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 171228-49-2 147912
8 Antifungal Agents Phase 3,Phase 2,Early Phase 1
9 Antiparasitic Agents Phase 3,Phase 2
10 Antiprotozoal Agents Phase 3,Phase 2
11 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
12 Hormone Antagonists Phase 3,Phase 2
13 Hormones Phase 3,Phase 2
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
15 Steroid Synthesis Inhibitors Phase 3,Phase 2
16
Busulfan Approved, Investigational Phase 1, Phase 2, Early Phase 1 55-98-1 2478
17
Fludarabine Approved Phase 1, Phase 2, Early Phase 1 21679-14-1, 75607-67-9 30751
18
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
19
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
20
Cyclosporine Approved, Investigational, Vet_approved Phase 2,Phase 1 79217-60-0, 59865-13-3 5284373 6435893
21
Mycophenolate mofetil Approved, Investigational Phase 2,Phase 1 128794-94-5 5281078
22
Mycophenolic acid Approved Phase 2,Phase 1 24280-93-1 446541
23
Ibuprofen Approved Phase 2 15687-27-1 3672
24
Melphalan Approved Phase 2 148-82-3 4053 460612
25
Thiotepa Approved Phase 2 52-24-4 5453
26
Acetaminophen Approved Phase 2 103-90-2 1983
27
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
28
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
29
Hydroxyurea Approved Phase 2 127-07-1 3657
30
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
31
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
32
Promethazine Approved Phase 2 60-87-7 4927
33
Vidarabine Approved Phase 2,Early Phase 1 24356-66-9 32326 21704
34
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
35
Tacrolimus Approved, Investigational Phase 2 104987-11-3 445643 439492
36
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
37
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
38
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
39
Infliximab Approved Phase 1, Phase 2 170277-31-3
40
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
41
leucovorin Approved, Nutraceutical Phase 2 58-05-9 54575, 6560146 143
42 Alkylating Agents Phase 1, Phase 2, Early Phase 1
43 Antineoplastic Agents, Alkylating Phase 1, Phase 2, Early Phase 1
44 Immunosuppressive Agents Phase 1, Phase 2, Early Phase 1
45 Cytochrome P-450 CYP3A Inhibitors Phase 2
46 Hydroxyitraconazole Phase 2
47 Antimetabolites Phase 2,Early Phase 1
48 Antimetabolites, Antineoplastic Phase 2,Early Phase 1
49 Antirheumatic Agents Phase 2,Phase 1,Early Phase 1
50 Calcineurin Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 62)
id Name Status NCT ID Phase
1 A Phase IV Study of Recombinant Human Gamma Interferon in Patients With Chronic Granulomatous Diseases of Childhood Completed NCT00001317 Phase 4
2 Assessment of the Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4
3 Treatment of Chronic Granulomatous Disease With Allogeneic Stem Cell Transplantation Versus Standard of Care Completed NCT00023192 Phase 3
4 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3
5 Gene Therapy for Chronic Granulomatous Disease Unknown status NCT00564759 Phase 1, Phase 2
6 Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD) Unknown status NCT01338675 Phase 1, Phase 2
7 Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children Completed NCT00927134 Phase 1, Phase 2
8 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease Completed NCT00006417 Phase 2
9 Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD) Completed NCT00799071 Phase 2
10 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2
11 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Recruiting NCT00578643 Phase 2
13 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Recruiting NCT02234934 Phase 1, Phase 2
14 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
15 Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
16 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
17 Combination of Ibuprofen, G-CSF and Plerixafor as Stem Cells Mobilization Regimen in Patients Affected by X-CGD Recruiting NCT03055247 Phase 2
18 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
19 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
20 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
21 Treosulfan and Fludarabine Phosphate Before Donor Stem Cell Transplant in Treating Patients With Nonmalignant Inherited Disorders Recruiting NCT00919503 Phase 2
22 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2
23 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
24 Pioglitazone Therapy for Chronic Granulomatous Disease Not yet recruiting NCT03080480 Phase 1, Phase 2
25 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2
26 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2
27 Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD) Withdrawn NCT01381003 Phase 1, Phase 2
28 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease Completed NCT00001765 Phase 1
29 Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up Completed NCT00001476 Phase 1
30 Use of Busulfan as Conditioning Agent for a Second Stem Cell Transplant Completed NCT00092937 Phase 1
31 Adjuvant Cytokine Therapy to Treat Pulmonary Mycobacterium Avium Complex Infection Completed NCT00111397 Phase 1
32 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
33 Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1
34 Effect of IFN-γ on Innate Immune Cells Recruiting NCT02609932 Phase 1
35 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
36 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Recruiting NCT02231710 Phase 1
37 Chronic Granulomatous Disease Study in China Unknown status NCT02231996
38 Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease Completed NCT02233036
39 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
40 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
41 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
42 Identifying Shared Genetic Susceptibility Regions in Chronic Beryllium Disease and Sarcoidosis Completed NCT00560989
43 Individual Sensitivity for Interstitial Lung Diseases Completed NCT00741572
44 Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease. Recruiting NCT02926963
45 Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995 Recruiting NCT02082353
46 Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 Recruiting NCT02116764
47 High Dose Peripheral Blood Stem Cell Transplantation With Post Transplant Cyclophosphamide for Patients With Chronic Granulomatous Disease Recruiting NCT02629120 Early Phase 1
48 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
49 Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System Recruiting NCT01063309
50 Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease Recruiting NCT02909244

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:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease 29 24 NCF4

Anatomical Context for Chronic Granulomatous Disease

MalaCards organs/tissues related to Chronic Granulomatous Disease:

39
Neutrophil, Bone, Skin, Lung, Bone Marrow, Liver, Eye

Publications for Chronic Granulomatous Disease

Articles related to Chronic Granulomatous Disease:

(show top 50) (show all 853)
id Title Authors Year
1
Prostatic abscess in a patient with chronic granulomatous disease: a multi-disciplinary intervention. ( 28218357 )
2017
2
Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK. ( 28337619 )
2017
3
Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. ( 28343844 )
2017
4
Paecilomyces formosus Infection in an Adult Patient with Undiagnosed Chronic Granulomatous Disease. ( 28429104 )
2017
5
Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells. ( 28356734 )
2017
6
Chronic Granulomatous Disease Presenting as Aspergillus Fumigatus Pneumonia in a Previously Healthy Young Woman. ( 28377567 )
2017
7
Chronic granulomatous disease caused by maternal uniparental isodisomy of chromosome 16. ( 28341171 )
2017
8
Severe Aspergillus Pneumonia and Pulmonary Artery Hypertension in a Child with Autosomal Recessive Chronic Granulomatous Disease and Selective IgA Deficiency. ( 28342009 )
2017
9
Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India. ( 28332028 )
2017
10
Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France. ( 28362954 )
2017
11
Successful hepatectomy for hepatic abscess with chronic granulomatous disease: a case report. ( 28447322 )
2017
12
X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability. ( 28528201 )
2017
13
Chronic granulomatous disease as a risk factor for cutaneous lupus in childhood. ( 28329526 )
2017
14
CRISPR-Mediated Knockout of Cybb in NSG Mice Establishes a Model of Chronic Granulomatous Disease for Human Stem-Cell Gene Therapy Transplants. ( 28264583 )
2017
15
CRISPR/Cas9-generated p47(phox)-deficient cell line for Chronic Granulomatous Disease gene therapy vector development. ( 28287132 )
2017
16
Chronic Colovesical Fistula Leading to Chronic Urinary Tract Infection Resulting in End-Stage Renal Disease in a Chronic Granulomatous Disease Patient. ( 28083485 )
2017
17
Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies. ( 27810866 )
2017
18
Disseminated Lichtheimia ramosa Infection After Hematopoietic Stem Cell Transplantation in a Child with Chronic Granulomatous Disease. ( 28333712 )
2017
19
CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease. ( 28077679 )
2017
20
Chromobacterium violaceum infection in chronic granulomatous disease: a case report and review of the literature. ( 28348801 )
2017
21
Erratum to: Clinical and Molecular Features of 38 Children with Chronic Granulomatous Disease in Mainland China. ( 27853979 )
2017
22
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review. ( 28251166 )
2017
23
Chronic Granulomatous Disease Mimicking Colonic Crohn's Disease Successfully Treated with Infliximab. ( 28377934 )
2017
24
Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience. ( 28342916 )
2017
25
Chronic Granulomatous Disease Due to Neutrophil Cytosolic Factor (NCF2) Gene Mutations in Three Unrelated Families. ( 28035544 )
2016
26
Comments on J Clin Immunol (2014) 34:633-641 DOI 10.1007/s10875-014-0061-0 : Clinical and Molecular Findings of 38 Children with Chronic Granulomatous Disease in Mainland China, by Huan Xu et al. ( 27582172 )
2016
27
Colitis as the Sole Initial Presentation of Chronic Granulomatous Disease: Histopathologic Clues to Diagnosis. ( 27331854 )
2016
28
Chronic granulomatous disease as an SOS call for multicenter cooperative effort to prevent infections: A meta-analysis of the treatments. ( 27613462 )
2016
29
Use of corticosteroids as an alternative to surgical treatment for liver abscesses in chronic granulomatous disease. ( 27437988 )
2016
30
Methylotroph Infections and Chronic Granulomatous Disease. ( 26886412 )
2016
31
Managing Inflammatory Manifestations in Patients with Chronic Granulomatous Disease. ( 27299584 )
2016
32
Proinflammatory cytokine response toward fungi but not bacteria in chronic granulomatous disease. ( 27283382 )
2016
33
Mycetoma Caused by Acremonium Species in a Patient with Chronic Granulomatous Disease. ( 27022493 )
2016
34
Association Between Discoid Lupus Erythematosus and Chronic Granulomatous Disease-Report of Two Cases and Review of the Literature. ( 27001332 )
2016
35
Cerebral aspergillosis and pulmonary tuberculosis in a child with chronic granulomatous disease. ( 27308089 )
2016
36
Mycobacterial disease in patients with chronic granulomatous disease: AA retrospective analysis of 71 cases. ( 26936803 )
2016
37
Targeted busulfan and fludarabine-based conditioning for bone marrow transplantation in chronic granulomatous disease. ( 28018447 )
2016
38
Treosulfan based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicentre experience. ( 27216217 )
2016
39
A Single-Center Experience Comparing Alemtuzumab, Fludarabine, and Melphalan Reduced-Intensity Conditioning with Myeloablative Busulfan, Cyclophosphamide, and Antithymocyte Globulin for Chronic Granulomatous Disease. ( 27543157 )
2016
40
Genetic Risk for Inflammatory Bowel Disease Is a Determinant of Crohn's Disease Development in Chronic Granulomatous Disease. ( 27861181 )
2016
41
Morillo-Gutierrez B, Beier R, Rao K, et al. Treosulfan-based conditioning for allogeneic HSCT in children with chronic granulomatous disease: a multicenter experience. Blood. 2016;128(3):440-448. ( 27884839 )
2016
42
Adolescent with recurrent tuberculosis: Can it be chronic granulomatous disease? ( 27865245 )
2016
43
Utility of fluorine-18-fluorodeoxyglucose positron emission tomography/computed tomography in a child with chronic granulomatous disease. ( 26917900 )
2016
44
Malaysia's First Transplanted Case of Chronic Granulomatous Disease: The Journey of Overcoming Obstacles. ( 27417247 )
2016
45
Vertebral Osteomyelitis and Acinetobacter Spp. Paravertebral Soft Tissue Infection in a 4 Year-Old Boy with X-Linked Chronic Granulomatous Disease. ( 27182896 )
2016
46
Staphylococcus aureus, phagocyte NADPH oxidase and chronic granulomatous disease. ( 27965320 )
2016
47
Decreased Cell Wall Galactosaminogalactan in Aspergillus nidulans Mediates Dysregulated Inflammation in the Chronic Granulomatous Disease Host. ( 27142572 )
2016
48
Bone Pain in a 4-year-old Boy with Chronic Granulomatous Disease and History of Aspergillus pneumonia. ( 26967683 )
2016
49
Chronic granulomatous disease. ( 26983962 )
2016
50
Hyperinflammation in patients with chronic granulomatous disease leads to impairment of hematopoietic stem cell functions. ( 26853280 )
2016

Variations for Chronic Granulomatous Disease

ClinVar genetic disease variations for Chronic Granulomatous Disease:

6 (show all 26)
id Gene Variation Type Significance SNP ID Assembly Location
1 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh37 Chromosome 16, 88709882: 88709882
2 CYBB NM_000397.3(CYBB): c.1244C> A (p.Pro415His) single nucleotide variant Pathogenic rs137854585 GRCh37 Chromosome X, 37664351: 37664351
3 CYBB NM_000397.3(CYBB): c.1166G> C (p.Gly389Ala) single nucleotide variant Pathogenic rs137854586 GRCh37 Chromosome X, 37664273: 37664273
4 CYBB NM_000397.3(CYBB): c.625C> T (p.His209Tyr) single nucleotide variant Pathogenic rs137854587 GRCh37 Chromosome X, 37655345: 37655345
5 CYBB NM_000397.3(CYBB): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs137854588 GRCh37 Chromosome X, 37642818: 37642818
6 CYBB NM_000397.3(CYBB): c.731G> C (p.Cys244Ser) single nucleotide variant Pathogenic rs137854589 GRCh37 Chromosome X, 37658264: 37658264
7 CYBB NM_000397.3(CYBB): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs137854590 GRCh37 Chromosome X, 37653046: 37653046
8 CYBB NM_000397.3(CYBB): c.302A> G (p.His101Arg) single nucleotide variant Pathogenic rs137854591 GRCh37 Chromosome X, 37651277: 37651277
9 CYBB NM_000397.3(CYBB): c.911C> G (p.Pro304Arg) single nucleotide variant Pathogenic rs137854596 GRCh37 Chromosome X, 37663143: 37663143
10 CYBB CYBB, EX12DEL deletion Pathogenic
11 CYBB NM_000397.3(CYBB): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs137854592 GRCh37 Chromosome X, 37658209: 37658209
12 CYBB CYBB, IVS3, G-A, +5 single nucleotide variant Pathogenic
13 CYBB NM_000397.3(CYBB): c.1499A> G (p.Asp500Gly) single nucleotide variant Pathogenic rs137854593 GRCh37 Chromosome X, 37668857: 37668857
14 CYBB NM_000397.3(CYBB): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs137854594 GRCh37 Chromosome X, 37651276: 37651276
15 CYBB NM_000397.3(CYBB): c.252G> A (p.Ala84=) single nucleotide variant Pathogenic rs387906485 GRCh37 Chromosome X, 37642853: 37642853
16 CYBB CYBB, IN5, L1 INS insertion Pathogenic
17 CYBB CYBB, 252G-A single nucleotide variant Pathogenic
18 CYBB NM_000397.3(CYBB): c.907C> A (p.His303Asn) single nucleotide variant Pathogenic rs137854595 GRCh37 Chromosome X, 37663139: 37663139
19 CYBB CYBB, IVS5, G-T, +978 single nucleotide variant Pathogenic
20 CYBB CYBB, EX4, L1 INS insertion Pathogenic
21 CYBB CYBB, IVS1, T-C, +6 single nucleotide variant Pathogenic
22 CYBB NM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter) indel Pathogenic rs387906486 GRCh37 Chromosome X, 37641385: 37641387
23 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh37 Chromosome X, 37658225: 37658225
24 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh37 Chromosome X, 37655252: 37655252
25 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh37 Chromosome 22, 37263476: 37263476
26 NCF4 NM_013416.3(NCF4): c.143_152dupAAGGAGGATC (p.Lys52Argfs) duplication Pathogenic rs869025585 GRCh37 Chromosome 22, 37260986: 37260995

Copy number variations for Chronic Granulomatous Disease from CNVD:

7
id 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 GeneCards Suite gene sharing:

(show all 37)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
14 CAT CSF2 CSF3 CYBA CYBB IFNG
2
Show member pathways
13.2 CLEC11A CSF2 CSF3 CYBB IL1B NCF1
3
Show member pathways
13.08 CAT CYBA CYBB NCF1 NCF2 NCF4
4
Show member pathways
12.99 CYBA CYBB NCF1 NCF2 NCF4 NOX1
5
Show member pathways
12.62 CYBA CYBB NCF1 NCF2 NCF4 RAC1
6 12.5 IFNG IL1B MPO NCF1 NCF4 TLR9
7
Show member pathways
12.45 CYBA CYBB NCF1 NCF2 NCF4
8
Show member pathways
12.43 CYBA CYBB NCF1 NCF2 NCF4 RAC1
9
Show member pathways
12.31 CYBA CYBB NCF1 NCF2 RAC1
10
Show member pathways
12.28 CAT IFNG IL1B MPO
11
Show member pathways
12.28 CSF2 CSF3 IFNG IL1B
12
Show member pathways
12.18 CYBA CYBB NCF1 NCF2 NOX1 RAC1
13
Show member pathways
12.18 CYBA CYBB IFNG IL1B NCF1 NCF2
14 12.05 CYBA CYBB MPO NCF1 NCF2 NCF4
15 11.97 CSF2 CSF3 IFNG MPO
16 11.94 CYBA IFNG IL1B NCF1 NCF2 NOX1
17 11.87 CYBB IL1B NOX1 RAC1
18
Show member pathways
11.86 IFNG IL1B TLR9
19
Show member pathways
11.84 CYBA CYBB NCF1 NCF2 NCF4
20 11.83 CSF2 CSF3 IL1B
21 11.82 CSF2 IFNG IL1B
22 11.79 CSF2 IFNG IL1B
23 11.79 CSF2 IFNG IL1B RAC1
24 11.72 CSF2 IFNG IL1B TLR9
25 11.67 CYBA IFNG IL1B NCF1 NCF2 NCF4
26 11.62 CSF2 CSF3 IL1B
27
Show member pathways
11.61 CSF2 IFNG IL1B
28 11.5 CSF2 CSF3 IL1B
29 11.49 CSF2 CSF3 IL1B
30 11.49 CSF3 IFNG IL1B TLR9
31
Show member pathways
11.37 CAT CYBA CYBB NCF1 NCF2 NCF4
32 11.36 CYBB IFNG IL1B
33 11.33 IFNG IL1B TLR9
34 11.3 CYBA CYBB NCF1 NCF2
35 11.23 CSF2 CSF3 IFNG IL1B
36 10.87 IL1B MPO
37 10.28 CYBA CYBB NCF1 NCF2 NCF4 NOX1

GO Terms for Chronic Granulomatous Disease

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.76 CAT CLEC11A CSF2 CSF3 IFNG IL1B
2 secretory granule GO:0030141 9.43 CYBA IL1B MPO
3 phagolysosome GO:0032010 9.13 NCF1 NCF2 NCF4
4 NADPH oxidase complex GO:0043020 9.1 CYBA CYBB NCF1 NCF2 NCF4 NOX1

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

(show all 33)
id Name GO ID Score Top Affiliating Genes
1 response to drug GO:0042493 9.95 CAT CYBA CYBB IFNG MT-CYB
2 inflammatory response GO:0006954 9.95 CYBA CYBB IL1B NOX1 RAC1 TLR9
3 cellular response to oxidative stress GO:0034599 9.85 CAT CYBA CYBB NCF1 NCF2 NCF4
4 cell redox homeostasis GO:0045454 9.83 CYBA CYBB NCF1 NCF2 NCF4
5 cellular response to mechanical stimulus GO:0071260 9.8 CYBA IL1B RAC1
6 positive regulation of catalytic activity GO:0043085 9.8 NCF1 NCF1C NCF2 NCF4
7 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.8 CYBA CYBB NCF1 NCF2 NCF4
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.8 CYBA CYBB NCF1 NCF2 NCF4 RAC1
9 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.78 CAT CSF3 NCF1
10 positive regulation of JNK cascade GO:0046330 9.76 IL1B NCF1 NOX1 TLR9
11 positive regulation of tumor necrosis factor production GO:0032760 9.75 CYBA IFNG TLR9
12 positive regulation of interleukin-6 production GO:0032755 9.73 CYBA IL1B TLR9
13 response to hyperoxia GO:0055093 9.66 CAT MT-CYB
14 negative regulation of growth of symbiont in host GO:0044130 9.65 IFNG MPO
15 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.65 IFNG IL1B
16 hydrogen peroxide biosynthetic process GO:0050665 9.62 CYBA CYBB
17 positive regulation of chemokine biosynthetic process GO:0045080 9.62 IFNG IL1B
18 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.61 IL1B TLR9
19 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.6 IFNG IL1B
20 podosome assembly GO:0071800 9.59 NCF1 NCF1C
21 regulation of defense response to virus by host GO:0050691 9.58 IFNG IL1B
22 positive regulation of interleukin-23 production GO:0032747 9.57 CSF2 IFNG
23 superoxide anion generation GO:0042554 9.55 CYBA CYBB NCF1 NCF2 NOX1
24 cellular response to L-glutamine GO:1904845 9.54 CYBA CYBB
25 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.52 IFNG IL1B
26 response to aldosterone GO:1904044 9.51 CYBA CYBB
27 superoxide metabolic process GO:0006801 9.43 CYBA CYBB NCF1 NCF1C NCF2 NOX1
28 respiratory burst GO:0045730 9.1 CYBA CYBB NCF1 NCF2 NCF4 NOX1
29 innate immune response GO:0045087 10.04 CYBA CYBB NCF1 NCF2 TLR9
30 positive regulation of cell proliferation GO:0008284 10.04 CLEC11A CSF2 CSF3 IFNG NOX1
31 immune response GO:0006955 10.04 CSF2 CSF3 IFNG IL1B NCF4
32 neutrophil degranulation GO:0043312 10.03 CAT CYBA CYBB MPO RAC1
33 oxidation-reduction process GO:0055114 10 CAT CYBA CYBB DECR1 MPO MT-CYB

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

id Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.87 CAT CYBA CYBB DECR1 MPO MT-CYB
2 cytokine activity GO:0005125 9.67 CSF2 CSF3 IFNG IL1B
3 heme binding GO:0020037 9.65 CAT CYBA CYBB HBG2 MPO
4 phosphatidylinositol binding GO:0035091 9.58 NCF1 NCF1C NCF4
5 electron carrier activity GO:0009055 9.55 CYBA CYBB MT-CYB NCF1 NCF2
6 interleukin-1 receptor binding GO:0005149 9.43 IL1B TLR9
7 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF1 NCF1C NCF2 NCF4
8 superoxide-generating NADPH oxidase activity GO:0016175 9.1 CYBA CYBB NCF1 NCF1C NCF2 NOX1

Sources for Chronic Granulomatous Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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