MCID: CHR012
MIFTS: 69

Chronic Granulomatous Disease

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

Aliases & Classifications for Chronic Granulomatous Disease

MalaCards integrated aliases for Chronic Granulomatous Disease:

Name: Chronic Granulomatous Disease 37 12 72 23 49 24 55 36 28 14 69
Cgd 12 23 24 55
Granulomatous Disease, Chronic 49 24 41
Autosomal Recessive Chronic Granulomatous Disease 24 69
X-Linked Chronic Granulomatous Disease 24 69
Granulomatous Disease, Chronic, X-Linked 69
Chronic Granulomatous Disorder 72
Chronic Septic Granulomatosis 55
Granulomatous Disease Chronic 51
Congenital Dysphagocytosis 12
Bridges-Good Syndrome 12
Quie Syndrome 12

Characteristics:

Orphanet epidemiological data:

55
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 32 D71
MeSH 41 D006105
NCIt 46 C26788
Orphanet 55 ORPHA379
MESH via Orphanet 42 D006105
UMLS via Orphanet 70 C0018203
ICD10 via Orphanet 33 D71
KEGG 36 H00098

Summaries for Chronic Granulomatous Disease

NIH Rare Diseases : 49 Chronic granulomatous disease (CGD) is a rare, inheritedimmunodeficiency 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 colitis and pneumonia, and has symptoms including gingivitis, sinusitis and otitis media. 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 Innate Immune System. The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and lung, and related phenotypes are hematopoietic system and cardiovascular system

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 : 24 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.

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 188)
# Related Disease Score Top Affiliating Genes
1 colitis 30.4 IFNG IL1B MPO TLR9
2 pneumonia 30.1 CSF3 IL1B MPO TLR9
3 granulocytopenia 29.8 CSF2 CSF3 MPO
4 meningitis 29.8 IFNG IL1B TLR9
5 acatalasemia 29.8 CAT MT-CYB
6 myeloperoxidase deficiency 29.7 CAT MPO
7 visceral leishmaniasis 29.7 IFNG IL1B TLR9
8 stomatitis 29.7 CSF2 CSF3 IL1B
9 leishmaniasis 29.7 IFNG IL1B TLR9
10 lung disease 29.6 CSF2 IL1B MPO TLR9
11 trichosporonosis 29.3 CSF2 CSF3 DECR1 IFNG
12 granulomatous disease, chronic, x-linked 12.1
13 mcleod syndrome 11.9
14 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 11.7
15 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 11.7
16 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 11.6
17 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 11.3
18 leukocyte adhesion deficiency, type iii 10.9
19 staphylococcal toxic shock syndrome 10.4 IFNG IL1B
20 cyclic neutropenia 10.3 CSF2 CSF3 IFNG
21 urogenital tuberculosis 10.3 CAT NCF4
22 autoinflammation, lipodystrophy, and dermatosis syndrome 10.3 IFNG IL1B MPO
23 coccidiosis 10.3 IFNG MT-CYB TLR9
24 aspergillosis 10.3
25 osteomyelitis 10.3
26 monocytic leukemia 10.3 CSF2 IFNG IL1B
27 suppurative lymphadenitis 10.2 CYBB DECR1 IFNG
28 acquired immunodeficiency syndrome 10.2 CSF2 IFNG IL1B
29 central nervous system vasculitis 10.2 IFNG IL1B TLR9
30 hematopoietic stem cell transplantation 10.2
31 ileitis 10.2 CSF2 MPO TLR9
32 tonsillitis 10.2 IFNG IL1B TLR9
33 primary bacterial infectious disease 10.2 IFNG IL1B TLR9
34 bone inflammation disease 10.2 IFNG IL1B TLR9
35 hepatitis 10.2
36 toxoplasmosis 10.2 IFNG IL1B TLR9
37 hypersensitivity reaction disease 10.2 IFNG IL1B TLR9
38 lupus erythematosus 10.2
39 inhalation anthrax 10.2 NCF4 TLR9
40 engraftment syndrome 10.2 CSF2 CSF3
41 mouth disease 10.2 IFNG IL1B TLR9
42 trypanosomiasis 10.1 IFNG IL1B TLR9
43 bone marrow cancer 10.1 CSF2 CSF3 MPO
44 chlamydia 10.1 IFNG IL1B RAC1
45 bronchial disease 10.1 CSF2 IL1B TLR9
46 leukocyte disease 10.1 CSF2 CSF3 TLR9
47 discoid lupus erythematosus 10.1
48 periodontitis 10.1 IFNG IL1B TLR9
49 intestinal disease 10.1 IFNG IL1B MPO TLR9
50 invasive aspergillosis 10.1

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:

55 31 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gingivitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0000230
2 sinusitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000246
3 otitis media 55 31 hallmark (90%) Very frequent (99-80%) HP:0000388
4 eczema 55 31 occasional (7.5%) Occasional (29-5%) HP:0000964
5 cutaneous photosensitivity 55 31 hallmark (90%) Very frequent (99-80%) HP:0000992
6 hypermelanotic macule 55 31 hallmark (90%) Very frequent (99-80%) HP:0001034
7 meningitis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001287
8 splenomegaly 55 31 occasional (7.5%) Occasional (29-5%) HP:0001744
9 abnormality of neutrophils 55 31 hallmark (90%) Very frequent (99-80%) HP:0001874
10 fever 55 31 hallmark (90%) Very frequent (99-80%) HP:0001945
11 pyloric stenosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0002021
12 malabsorption 55 31 hallmark (90%) Very frequent (99-80%) HP:0002024
13 recurrent respiratory infections 55 31 hallmark (90%) Very frequent (99-80%) HP:0002205
14 hepatomegaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0002240
15 tracheoesophageal fistula 55 31 hallmark (90%) Very frequent (99-80%) HP:0002575
16 chronic obstructive pulmonary disease 55 31 hallmark (90%) Very frequent (99-80%) HP:0006510
17 liver abscess 55 31 occasional (7.5%) Occasional (29-5%) HP:0100523
18 inflammatory abnormality of the eye 55 31 occasional (7.5%) Occasional (29-5%) HP:0100533
19 mediastinal lymphadenopathy 55 31 hallmark (90%) Very frequent (99-80%) HP:0100721
20 sepsis 55 31 occasional (7.5%) Occasional (29-5%) HP:0100806
21 skin ulcer 55 31 occasional (7.5%) Occasional (29-5%) HP:0200042
22 macule 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10 RAC1 RAC2 TLR9 XK CLEC11A CSF2
2 cardiovascular system MP:0005385 9.96 CSF2 CYBA CYBB IFNG IL1B MPO
3 homeostasis/metabolism MP:0005376 9.86 CAT CLEC11A CSF2 CYBA CYBB DECR1
4 immune system MP:0005387 9.44 CSF2 CSF3 CYBA CYBB 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 99)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
2
Nicotinamide Approved, Investigational, Nutraceutical Phase 4 98-92-0 936
3 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
4 Antiviral Agents Phase 4,Phase 2,Phase 1,Early Phase 1
5 Interferon-gamma Phase 4,Phase 1
6 interferons Phase 4,Phase 1
7 Nicotinic Acids Phase 4
8 Vitamin B3 Nutraceutical Phase 4
9
alemtuzumab Approved, Investigational Phase 3,Phase 2,Early Phase 1 216503-57-0
10
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Early Phase 1 22916-47-8 4189
11
Posaconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 171228-49-2 147912
12 Antifungal Agents Phase 3,Phase 2,Early Phase 1
13 Antiparasitic Agents Phase 3,Phase 2
14 Antiprotozoal Agents Phase 3,Phase 2
15 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
16 Hormone Antagonists Phase 3,Phase 2
17 Hormones Phase 3,Phase 2
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2
19 Steroid Synthesis Inhibitors Phase 3,Phase 2
20
Busulfan Approved, Investigational Phase 1, Phase 2, Early Phase 1 55-98-1 2478
21
Fludarabine Approved Phase 1, Phase 2, Early Phase 1 21679-14-1, 75607-67-9 30751
22
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
23
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
24
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
25
Ibuprofen Approved Phase 2 15687-27-1 3672
26
Melphalan Approved Phase 2 148-82-3 460612 4053
27 Thiotepa Approved, Investigational Phase 2 52-24-4 5453
28
Vidarabine Approved, Investigational Phase 2,Early Phase 1 24356-66-9 21704 32326
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
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
33
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
34
Infliximab Approved Phase 1, Phase 2 170277-31-3
35 Alkylating Agents Phase 1, Phase 2, Early Phase 1
36 Immunosuppressive Agents Phase 1, Phase 2, Early Phase 1
37 Cytochrome P-450 CYP3A Inhibitors Phase 2
38 Hydroxyitraconazole Phase 2
39 Antirheumatic Agents Phase 2,Phase 1,Early Phase 1
40 Antimetabolites Phase 2,Early Phase 1
41 Antimetabolites, Antineoplastic Phase 2,Early Phase 1
42 Calcineurin Inhibitors Phase 2
43 Cyclosporins Phase 2,Phase 1
44 Dermatologic Agents Phase 2,Phase 1
45 Hypoglycemic Agents Phase 1, Phase 2
46 Analgesics Phase 2
47 Analgesics, Non-Narcotic Phase 2
48 Anti-HIV Agents Phase 2
49 Anti-Inflammatory Agents Phase 2,Phase 1
50 Anti-Inflammatory Agents, Non-Steroidal Phase 2

Interventional clinical trials:

(show top 50) (show all 61)

# 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 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
3 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
4 Posaconazole to Treat Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
5 Gene Therapy for 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 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 posaconazole (PSZ)
10 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2 itraconazole
11 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
12 Pioglitazone Therapy for Chronic Granulomatous Disease Recruiting NCT03080480 Phase 1, Phase 2 Pioglitazone
13 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
14 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Recruiting NCT02234934 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 Ibuprofen;Myelostim;Mozobil
18 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
19 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
20 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
21 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
22 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Active, not recruiting NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
23 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
24 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
25 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2 Infliximab
26 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2 Cyclophosphamide Dose Level 1;Cyclophosphamide Dose Level 2;Cyclophosphamide Dose Level 3;Cyclophosphamide Dose Level 4
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 Gene Therapy Method for CGD
30 Use of Busulfan as Conditioning Agent for a Second Stem Cell Transplant Completed NCT00092937 Phase 1 Busulfan
31 Adjuvant Cytokine Therapy to Treat Pulmonary Mycobacterium Avium Complex Infection Completed NCT00111397 Phase 1 Interferon Gamma, GM-CSF
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 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1 Abatacept
35 Effect of IFN-γ on Innate Immune Cells Active, not recruiting NCT02609932 Phase 1 Administration of drug (Interferon-gamma 1-b) subcutaneously
36 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Terminated 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 Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease Completed NCT02909244
41 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
42 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
43 Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 Recruiting NCT02116764
44 Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995 Recruiting NCT02082353
45 High Dose Peripheral Blood Stem Cell Transplantation With Post Transplant Cyclophosphamide for Patients With Chronic Granulomatous Disease Recruiting NCT02629120 Early Phase 1 Campath;Busulfan;cyclophosphamide
46 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
47 Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System Recruiting NCT01063309
48 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
49 Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults With Cancer Recruiting NCT02108028
50 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973

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 28

Anatomical Context for Chronic Granulomatous Disease

MalaCards organs/tissues related to Chronic Granulomatous Disease:

38
Neutrophil, Bone, Lung, Skin, Bone Marrow, Liver, T Cells

Publications for Chronic Granulomatous Disease

Articles related to Chronic Granulomatous Disease:

(show top 50) (show all 891)
# Title Authors Year
1
Haploidentical stem cell transplantation in a boy with chronic granulomatous disease. ( 29373243 )
2018
2
Analysis of Chronic Granulomatous Disease in the Kavkazi Population in Israel Reveals Phenotypic Heterogeneity in Patients with the Same NCF1 mutation (c.579G>A). ( 29411231 )
2018
3
Long-term observational studies of chronic granulomatous disease. ( 29135572 )
2018
4
Successful transcatheter arterial antimicrobial and steroid therapy for refractory liver abscess in chronic granulomatous disease: A case report and review of literature. ( 29132925 )
2018
5
Male X-chromosome mosaicism leading to carrier phenotype and inheritance of chronic granulomatous disease. ( 29410207 )
2018
6
Comment on: Phenotypic Prenatal Diagnosis of Chronic Granulomatous Disease: A Useful Tool in the Absence of Molecular Diagnosis. ( 29119580 )
2018
7
Hypersensitive Pneumonitis: an Initial Presentation of Chronic Granulomatous Disease in a Child. ( 29302845 )
2018
8
Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children. ( 29073922 )
2017
9
Seven chronic granulomatous disease cases in a single-center experience and a review of the literature. ( 28577521 )
2017
10
Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. ( 28343844 )
2017
11
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
12
Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK. ( 28337619 )
2017
13
Tuberculosis masked by immunodeficiency: a review of two cases diagnosed with chronic granulomatous disease. ( 28621249 )
2017
14
Chronic Granulomatous Disease Presenting as Aspergillus Fumigatus Pneumonia in a Previously Healthy Young Woman. ( 28377567 )
2017
15
Gene-edited pseudogene resurrection corrects p47<sup>phox</sup>-deficient chronic granulomatous disease. ( 29296942 )
2017
16
Recent advances in understanding and treating chronic granulomatous disease. ( 28868142 )
2017
17
Chromobacterium violaceum infection in chronic granulomatous disease: a case report and review of the literature. ( 28348801 )
2017
18
Multiple Brain Abscesses Caused by Trichosporon inkin in a Patient with X-Linked Chronic Granulomatous Disease (CGD) Successfully Treated with Antifungal Therapy. ( 28698914 )
2017
19
Acanthocytes in the McLeod phenotype of X-linked chronic granulomatous disease. ( 28944547 )
2017
20
Aspergillus nodules in chronic granulomatous disease attributable to Aspergillus ochraceus. ( 28702318 )
2017
21
Chronic Granulomatous Disease in children: a single center experience. ( 29223406 )
2017
22
Nine patients with chronic granulomatous disease having selective neck dissection for severe cervical lymphadenitis. ( 28727298 )
2017
23
Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease. ( 29018441 )
2017
24
Kinetics of Radiological Response of Thoracic Invasive Fungal Disease in Chronic Granulomatous Disease. ( 28861675 )
2017
25
Successful hepatectomy for hepatic abscess with chronic granulomatous disease: a case report. ( 28447322 )
2017
26
Phenotypic Prenatal Diagnosis of Chronic Granulomatous Disease: A Useful Tool in The Absence Of Molecular Diagnosis. ( 29063637 )
2017
27
Fecal Calprotectin Rise in Chronic Granulomatous Disease-Associated Colitis. ( 28879453 )
2017
28
Disseminated Lichtheimia ramosa Infection After Hematopoietic Stem Cell Transplantation in a Child with Chronic Granulomatous Disease. ( 28333712 )
2017
29
CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease. ( 28077679 )
2017
30
Chronic Granulomatous Disease Mimicking Colonic Crohn's Disease Successfully Treated with Infliximab. ( 28377934 )
2017
31
Major CD4 T-Cell Depletion and Immune Senescence in a Patient with Chronic Granulomatous Disease. ( 28553289 )
2017
32
X-linked Carriers of Chronic Granulomatous Disease: Illness, Lyonization and Stability. ( 28528201 )
2017
33
Severe Aspergillus Pneumonia and Pulmonary Artery Hypertension in a Child with Autosomal Recessive Chronic Granulomatous Disease and Selective IgA Deficiency. ( 28342009 )
2017
34
Chronic Granulomatous Disease in Patients Reaching Adulthood: A Nationwide Study in France. ( 28362954 )
2017
35
Treatment of chronic granulomatous disease-associated fistulising colitis with vedolizumab. ( 28919373 )
2017
36
Paecilomyces formosus Infection in an Adult Patient with Undiagnosed Chronic Granulomatous Disease. ( 28429104 )
2017
37
Granulocyte transfusions in patients with chronic granulomatous disease and refractory infections: The NIH experience. ( 28342916 )
2017
38
CRISPR-Mediated Knockout of Cybb in NSG Mice Establishes a Model of Chronic Granulomatous Disease for Human Stem-Cell Gene Therapy Transplants. ( 28264583 )
2017
39
Transition From Pediatric to Adult Care by Young Adults With Chronic Granulomatous Disease: The Patient's Viewpoint. ( 28947348 )
2017
40
Mutation in an exonic splicing enhancer site causing chronic granulomatous disease. ( 28886419 )
2017
41
Fulminant Sepsis Due to Granulibacter bethesdensis in a 4-Year-Old Boy with X-Linked Chronic Granulomatous Disease. ( 28650935 )
2017
42
Cutaneous and Visceral Chronic Granulomatous Disease Triggered by a Rubella Virus Vaccine Strain in Children With Primary Immunodeficiencies. ( 27810866 )
2017
43
Three novel mutations in CYBA among 22 Iranians with Chronic granulomatous disease. ( 28941186 )
2017
44
Spectrum of imaging findings of chronic granulomatous disease: a single center experience. ( 29097349 )
2017
45
Differential diagnosis in ulcerative colitis in an adolescent: Chronic granulomatous disease needs extra attention. ( 28573071 )
2017
46
Cytologic and Ultrastructural Findings of Bronchoalveolar Lavage in Patients With Chronic Granulomatous Disease. ( 29050515 )
2017
47
Infection Profile in Chronic Granulomatous Disease: a 23-Year Experience from a Tertiary Care Center in North India. ( 28332028 )
2017
48
Chronic Colovesical Fistula Leading to Chronic Urinary Tract Infection Resulting in End-Stage Renal Disease in a Chronic Granulomatous Disease Patient. ( 28083485 )
2017
49
Allogeneic Reduced-Intensity Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease: a Single-Center Prospective Trial. ( 28752258 )
2017
50
Pyoderma gangrenosum in a patient with chronic granulomatous disease: A case report. ( 28767612 )
2017

Variations for Chronic Granulomatous Disease

ClinVar genetic disease variations for Chronic Granulomatous Disease:

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

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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 CAT CSF2 CSF3 CYBA CYBB IFNG
2
Show member pathways
13.39 CLEC11A CSF2 CSF3 IL1B NCF1 RAC1
3
Show member pathways
13.24 CLEC11A CSF2 CSF3 CYBB IL1B NCF1
4
Show member pathways
13.11 CAT CYBA CYBB NCF1 NCF2 NCF4
5
Show member pathways
13 CYBA CYBB NCF1 NCF2 NCF4 NOX1
6
Show member pathways
12.64 CYBA CYBB NCF1 NCF2 NCF4 RAC1
7 12.57 IFNG IL1B MPO NCF1 NCF4 TLR9
8
Show member pathways
12.48 CYBA CYBB NCF1 NCF2 NCF4 RAC1
9
Show member pathways
12.47 CYBA CYBB NCF1 NCF2 NCF4
10
Show member pathways
12.34 CYBA CYBB NCF1 NCF2 RAC1 RAC2
11
Show member pathways
12.3 CAT IFNG IL1B MPO
12
Show member pathways
12.3 CSF2 CSF3 IFNG IL1B
13
Show member pathways
12.25 CYBA CYBB NCF1 NCF2 NOX1 RAC1
14
Show member pathways
12.22 CYBA CYBB IFNG IL1B NCF1 NCF2
15
Show member pathways
12.16 CYBA CYBB NCF1 NCF2 NCF4 NOX1
16 12.05 CYBA CYBB MPO NCF1 NCF2 NCF4
17 11.99 CSF2 CSF3 IFNG MPO
18 11.91 CYBB IL1B NOX1 RAC1
19 11.9 CYBA IFNG IL1B NCF1 NCF2 NOX1
20 11.85 CSF2 CSF3 IL1B
21 11.84 CSF2 IFNG IL1B
22 11.83 CSF2 IFNG IL1B RAC1
23 11.81 NCF1 RAC1 RAC2
24
Show member pathways
11.81 IFNG IL1B TLR9
25
Show member pathways
11.81 CYBA CYBB NCF1 NCF2 NCF4 RAC2
26 11.8 CSF2 IFNG IL1B
27 11.77 RAC1 RAC2 TLR9
28 11.76 CSF2 IFNG IL1B TLR9
29 11.67 CYBA IFNG IL1B NCF1 NCF2 NCF4
30 11.63 CSF2 CSF3 IL1B
31
Show member pathways
11.63 CSF2 IFNG IL1B
32 11.54 CSF3 IFNG IL1B TLR9
33 11.52 CSF2 CSF3 IL1B
34 11.5 CSF2 CSF3 IL1B
35
Show member pathways
11.47 CAT CYBA CYBB NCF1 NCF2 NCF4
36 11.38 CYBB IFNG IL1B
37 11.35 IFNG IL1B TLR9
38 11.35 CYBA CYBB NCF1 NCF2 RAC2
39 11.27 CSF2 CSF3 IFNG IL1B
40 11.16 CYBA NCF4 RAC2
41 11.02 CLEC11A CSF2 CSF3 IL1B NCF2 RAC1
42 10.89 IL1B MPO
43 10.34 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:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.86 CAT CLEC11A CSF2 CSF3 IFNG IL1B
2 secretory granule GO:0030141 9.5 CYBA IL1B MPO
3 phagocytic vesicle membrane GO:0030670 9.33 CYBA CYBB RAC2
4 phagolysosome GO:0032010 9.13 NCF1 NCF2 NCF4
5 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 31)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.97 CYBA CYBB IL1B NOX1 RAC1 TLR9
2 cellular response to oxidative stress GO:0034599 9.85 CAT CYBA CYBB NCF1 NCF2 NCF4
3 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.83 CYBA CYBB NCF1 NCF2 NCF4
4 positive regulation of catalytic activity GO:0043085 9.82 NCF1C NCF2 NCF4
5 electron transport chain GO:0022900 9.81 CYBA CYBB NCF1 NCF2
6 cellular response to mechanical stimulus GO:0071260 9.8 CYBA IL1B RAC1
7 cell redox homeostasis GO:0045454 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 9.78 IL1B NCF1 NOX1 TLR9
11 positive regulation of interleukin-6 production GO:0032755 9.77 CYBA IL1B TLR9
12 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.65 IFNG IL1B
13 positive regulation of granulocyte macrophage colony-stimulating factor production GO:0032725 9.63 IL1B TLR9
14 hydrogen peroxide biosynthetic process GO:0050665 9.62 CYBA CYBB
15 podosome assembly GO:0071800 9.6 NCF1 NCF1C
16 positive regulation of interleukin-23 production GO:0032747 9.58 CSF2 IFNG
17 regulation of hydrogen peroxide metabolic process GO:0010310 9.58 RAC1 RAC2
18 neutrophil differentiation GO:0030223 9.57 CSF2 CSF3
19 regulation of respiratory burst GO:0060263 9.56 RAC1 RAC2
20 cellular response to L-glutamine GO:1904845 9.55 CYBA CYBB
21 superoxide anion generation GO:0042554 9.55 CYBA CYBB NCF1 NCF2 NOX1
22 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.54 IFNG IL1B
23 response to aldosterone GO:1904044 9.52 CYBA CYBB
24 superoxide metabolic process GO:0006801 9.43 CYBA CYBB NCF1 NCF1C NCF2 NOX1
25 respiratory burst GO:0045730 9.1 CYBA CYBB NCF1 NCF2 NCF4 NOX1
26 innate immune response GO:0045087 10.04 CYBA CYBB NCF1 NCF2 TLR9
27 immune response GO:0006955 10.04 CSF2 CSF3 IFNG IL1B NCF4
28 neutrophil degranulation GO:0043312 10.03 CAT CYBA CYBB MPO RAC1
29 regulation of receptor activity GO:0010469 10.01 CLEC11A CSF2 CSF3 IFNG IL1B
30 positive regulation of cell proliferation GO:0008284 10 CLEC11A CSF2 CSF3 IFNG IL1B NOX1
31 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:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.8 CAT CYBA CYBB DECR1 MPO MT-CYB
2 cytokine activity GO:0005125 9.67 CSF2 CSF3 IFNG IL1B
3 heme binding GO:0020037 9.62 CAT CYBA CYBB MPO
4 phosphatidylinositol binding GO:0035091 9.58 NCF1 NCF1C NCF4
5 electron transfer activity GO:0009055 9.55 CYBA CYBB MT-CYB NCF1 NCF2
6 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF1 NCF1C NCF2 NCF4
7 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....