MCID: CHR012
MIFTS: 69

Chronic Granulomatous Disease

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 39 12 77 25 54 26 60 38 30 6 15 74
Granulomatous Disease, Chronic 54 26 45 41
Cgd 12 25 26 60
Autosomal Recessive Chronic Granulomatous Disease 26 74
X-Linked Chronic Granulomatous Disease 26 74
Granulomatous Disease, Chronic, X-Linked 74
Chronic Granulomatous Disorder 77
Chronic Septic Granulomatosis 60
Granulomatous Disease Chronic 56
Congenital Dysphagocytosis 12
Bridges-Good Syndrome 12
Quie Syndrome 12

Characteristics:

Orphanet epidemiological data:

60
chronic granulomatous disease
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000 (Worldwide),1-9/1000000 (United States),1-9/1000000 (Europe),1-9/1000000 (United Kingdom),1-9/1000000 (France),1-9/1000000 (Sweden),1-9/1000000 (Italy),1-9/1000000 (Denmark),1-9/1000000 (Netherlands),<1/1000000 (Australia),1-9/1000000 (Japan),1-9/1000000 (Korea, Republic of),1-9/1000000 (Latin America),1-9/1000000 (Israel); Age of onset: Adolescent,Adult,Childhood,Infancy; Age of death: adult,young Adult;

Classifications:



External Ids:

Disease Ontology 12 DOID:3265
KEGG 38 H00098
MeSH 45 D006105
NCIt 51 C26788
SNOMED-CT 69 11210002
ICD10 34 D71
MESH via Orphanet 46 D006105
ICD10 via Orphanet 35 D71
UMLS via Orphanet 75 C0018203
Orphanet 60 ORPHA379

Summaries for Chronic Granulomatous Disease

NIH Rare Diseases : 54 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). 

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

Disease Ontology : 12 A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed.

Genetics Home Reference : 26 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 : 77 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 211)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 33.6 CYBA CYBB DECR1 NCF1 NCF2
2 granulomatous disease, chronic, x-linked 33.5 CYBA CYBB KEL MT-CYB NCF1 NCF2
3 myeloperoxidase deficiency 32.5 CAT MPO
4 mucormycosis 30.4 CSF2 IFNG
5 sarcoidosis 1 30.2 CSF2 IFNG IL1B
6 cellulitis 30.1 CYBA CYBB NCF1 NCF2
7 trichosporonosis 30.0 CSF2 DECR1 IFNG
8 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 12.3
9 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 12.3
10 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 12.2
11 mcleod syndrome 12.1
12 granulomatous disease, chronic, autosomal dominant type 11.8
13 peroxisome biogenesis disorder 8a 11.7
14 46 xy gonadal dysgenesis 11.3
15 peroxisome biogenesis disorder 8b 11.1
16 leukocyte adhesion deficiency, type iii 11.1
17 aspergillosis 10.6
18 osteomyelitis 10.5
19 colitis 10.5
20 pneumonia 10.5
21 lupus erythematosus 10.4
22 staphylococcal toxic shock syndrome 10.4 IFNG IL1B
23 large granular lymphocyte leukemia 10.4 CSF2 IFNG
24 hematopoietic stem cell transplantation 10.4
25 urogenital tuberculosis 10.4 CAT NCF4
26 invasive aspergillosis 10.3
27 monocytic leukemia 10.3 CSF2 IFNG IL1B
28 proteasome-associated autoinflammatory syndrome 1 10.3 IFNG IL1B MPO
29 suppurative lymphadenitis 10.3 CYBB DECR1 IFNG
30 acquired immunodeficiency syndrome 10.3 CSF2 IFNG IL1B
31 toxic optic neuropathy 10.3 CAT IL1B
32 crohn's disease 10.3
33 discoid lupus erythematosus 10.3
34 cystitis 10.2
35 burns 10.2 CSF2 IL1B
36 bacterial infectious disease 10.2 CSF2 IFNG IL1B
37 acatalasemia 10.2 CAT DECR1 MT-CYB
38 respiratory system disease 10.2 CSF2 IFNG IL1B MPO
39 campylobacteriosis 10.2 IFNG IL1B
40 nocardiosis 10.2
41 parasitic protozoa infectious disease 10.1 DECR1 IFNG IL1B MT-CYB
42 vascular disease 10.1 CAT CYBB MPO NOX1
43 ulcerative colitis 10.1
44 inflammatory bowel disease 10.1
45 lymphadenitis 10.1
46 pericarditis 10.1
47 systemic lupus erythematosus 10.0
48 kawasaki disease 10.0
49 hemophagocytic lymphohistiocytosis 10.0
50 immunoglobulin alpha deficiency 10.0

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:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 60 33 hallmark (90%) Very frequent (99-80%) HP:0002205
2 hepatomegaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0002240
3 malabsorption 60 33 hallmark (90%) Very frequent (99-80%) HP:0002024
4 fever 60 33 hallmark (90%) Very frequent (99-80%) HP:0001945
5 sinusitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000246
6 chronic obstructive pulmonary disease 60 33 hallmark (90%) Very frequent (99-80%) HP:0006510
7 otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000388
8 tracheoesophageal fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0002575
9 pyloric stenosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0002021
10 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
11 hypermelanotic macule 60 33 hallmark (90%) Very frequent (99-80%) HP:0001034
12 abnormality of neutrophils 60 33 hallmark (90%) Very frequent (99-80%) HP:0001874
13 mediastinal lymphadenopathy 60 33 hallmark (90%) Very frequent (99-80%) HP:0100721
14 splenomegaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001744
15 skin ulcer 60 33 occasional (7.5%) Occasional (29-5%) HP:0200042
16 gingivitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0000230
17 meningitis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001287
18 sepsis 60 33 occasional (7.5%) Occasional (29-5%) HP:0100806
19 eczema 60 33 occasional (7.5%) Occasional (29-5%) HP:0000964
20 liver abscess 60 33 occasional (7.5%) Occasional (29-5%) HP:0100523
21 inflammatory abnormality of the eye 60 33 occasional (7.5%) Occasional (29-5%) HP:0100533
22 macule 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Chronic Granulomatous Disease:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.21 CAT CLEC11A CSF2 CYBA CYBB CYBC1
2 hematopoietic system MP:0005397 10.17 CLEC11A CSF2 CYBA CYBB IFNG IL1B
3 cardiovascular system MP:0005385 10.14 CSF2 CYBA CYBB IFNG IL1B KEL
4 cellular MP:0005384 10.11 CAT CLEC11A CSF2 CYBA CYBB IFNG
5 immune system MP:0005387 9.93 CSF2 CYBA CYBB IFNG IL1B MECOM
6 adipose tissue MP:0005375 9.91 CLEC11A CSF2 CYBA CYBB CYBC1 MECOM
7 muscle MP:0005369 9.56 CYBB IFNG KEL MECOM MPO NCF1
8 neoplasm MP:0002006 9.1 CAT CSF2 CYBB IFNG IL1B MECOM

Drugs & Therapeutics for Chronic Granulomatous Disease

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

(show top 50) (show all 105)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
2
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
3 Antiviral Agents Phase 4,Phase 2,Phase 1,Early Phase 1,Not Applicable
4 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1
5 Interferon-gamma Phase 4,Phase 1
6 interferons Phase 4,Phase 1
7 Nicotinic Acids Phase 4
8 Vitamin B3 Phase 4
9
alemtuzumab Approved, Investigational Phase 3,Phase 2,Early Phase 1,Not Applicable 216503-57-0
10
Posaconazole Approved, Investigational, Vet_approved Phase 3,Phase 2 171228-49-2 147912
11
Miconazole Approved, Investigational, Vet_approved Phase 3,Phase 2,Not Applicable,Early Phase 1 22916-47-8 4189
12 Antiparasitic Agents Phase 3,Phase 2
13 Hormone Antagonists Phase 3,Phase 2,Not Applicable
14 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 3,Phase 2,Not Applicable
15 Antiprotozoal Agents Phase 3,Phase 2
16 Antifungal Agents Phase 3,Phase 2,Not Applicable,Early Phase 1
17 Cytochrome P-450 Enzyme Inhibitors Phase 3,Phase 2
18 Steroid Synthesis Inhibitors Phase 3,Phase 2
19 Hormones Phase 3,Phase 2,Not Applicable
20
Fludarabine Approved Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1 75607-67-9, 21679-14-1 30751
21
Busulfan Approved, Investigational Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable 55-98-1 2478
22
Ibuprofen Approved Phase 2 15687-27-1 3672
23
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1,Not Applicable 50-18-0, 6055-19-2 2907
24
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
25
Methylprednisolone hemisuccinate Approved Phase 2,Not Applicable 2921-57-5
26
Methylprednisolone Approved, Vet_approved Phase 2,Not Applicable 83-43-2 6741
27
Melphalan Approved Phase 2,Not Applicable 148-82-3 460612 4053
28
Prednisone Approved, Vet_approved Phase 2,Not Applicable 53-03-2 5865
29
Prednisolone Approved, Vet_approved Phase 2,Not Applicable 50-24-8 5755
30
Prednisolone phosphate Approved, Vet_approved Phase 2,Not Applicable 302-25-0
31
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
32
Thiotepa Approved, Investigational Phase 2,Phase 1 52-24-4 5453
33
Vidarabine Approved, Investigational Phase 2,Early Phase 1,Not Applicable 24356-66-9 21704 32326
34
Hydroxyurea Approved Phase 2 127-07-1 3657
35
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
36
Infliximab Approved Phase 1, Phase 2 170277-31-3
37
Prednisolone hemisuccinate Experimental Phase 2,Not Applicable 2920-86-7
38
Emodepside Investigational, Vet_approved Phase 2 155030-63-0
39 Immunosuppressive Agents Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
40 Antineoplastic Agents, Alkylating Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
41 Immunologic Factors Phase 1, Phase 2,Phase 2,Not Applicable,Early Phase 1
42 Alkylating Agents Phase 1, Phase 2,Phase 2,Early Phase 1,Not Applicable
43 Analgesics Phase 2
44 Anti-Retroviral Agents Phase 2
45 Antirheumatic Agents Phase 2,Phase 1,Not Applicable,Early Phase 1
46 Plerixafor octahydrochloride Phase 2
47 Analgesics, Non-Narcotic Phase 2
48 Anti-HIV Agents Phase 2
49 Anti-Inflammatory Agents Phase 2,Phase 1,Not Applicable
50 Peripheral Nervous System Agents Phase 2,Not Applicable

Interventional clinical trials:

(show top 50) (show all 68)
# 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 Combination of Ibuprofen, G-CSF and Plerixafor as Stem Cells Mobilization Regimen in Patients Affected by X-CGD Unknown status NCT03055247 Phase 2 Ibuprofen;Myelostim;Mozobil
8 Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children Completed NCT00927134 Phase 1, Phase 2
9 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Completed NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
10 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease Completed NCT00006417 Phase 2
11 Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD) Completed NCT00799071 Phase 2 posaconazole (PSZ)
12 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2 itraconazole
13 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
14 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Completed NCT01998633 Phase 2
15 Pioglitazone Therapy for Chronic Granulomatous Disease Recruiting NCT03080480 Phase 1, Phase 2 Pioglitazone
16 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
17 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Recruiting NCT02234934 Phase 1, Phase 2
18 Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
19 Plerixafor/G-CSF as Additional Agents for Conditioning Before HSCT in CGD Patients Recruiting NCT03547830 Phase 2 Plerixafor;Gcsf
20 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
21 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2 Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
22 Conditioning Regimen for Allogeneic Hematopoietic Stem-Cell Transplantation Recruiting NCT03513328 Phase 1, Phase 2 Thiotepa--single daily dose;Thiotepa--escalated dose
23 Fludarabine Phosphate, Cyclophosphamide, Total Body Irradiation, and Donor Stem Cell Transplant in Treating Patients With Blood Cancer Recruiting NCT03333486 Phase 2 Cyclophosphamide;Fludarabine Phosphate
24 Alpha/Beta T and CD19+ Depleted Peripheral Stem Cells for Patients With Primary Immunodeficiencies Recruiting NCT02990819 Phase 2
25 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2 Hydroxyurea;Alemtuzumab;Fludarabine;Melphalan;Thiotepa
26 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
27 Bilateral Orthotopic Lung Transplant - Bone Marrow Transplant Active, not recruiting NCT03330795 Phase 1, Phase 2
28 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Enrolling by invitation NCT01852370 Phase 1, Phase 2
29 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2 Infliximab
30 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
31 Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD) Withdrawn NCT01381003 Phase 1, Phase 2
32 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease Completed NCT00001765 Phase 1
33 Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up Completed NCT00001476 Phase 1 Gene Therapy Method for CGD
34 Effect of IFN-γ on Innate Immune Cells Completed NCT02609932 Phase 1 Administration of drug (Interferon-gamma 1-b) subcutaneously
35 Use of Busulfan as Conditioning Agent for a Second Stem Cell Transplant Completed NCT00092937 Phase 1 Busulfan
36 Adjuvant Cytokine Therapy to Treat Pulmonary Mycobacterium Avium Complex Infection Completed NCT00111397 Phase 1 Interferon Gamma, GM-CSF
37 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
38 Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1
39 BMT Abatacept for Non-Malignant Diseases Active, not recruiting NCT01917708 Phase 1 Abatacept
40 Safety Study of Gene Modified Donor T Cell Infusion After Stem Cell Transplant for Non-Malignant Diseases Active, not recruiting NCT02231710 Phase 1
41 Chronic Granulomatous Disease Study in China Unknown status NCT02231996
42 Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease Completed NCT02233036
43 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
44 Study of Gut Microbiota in Primary Immune Deficiency, Possibly Associated With Inflammatory Bowel Disease Completed NCT02909244
45 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 Not Applicable cyclosporine;fludarabine;mycophenolate mofetil
46 Genetic Disorders of Mucociliary Clearance in Nontuberculous Mycobacterial Lung Disease Completed NCT00368446
47 Role of Interferon-gamma 1-b (IFN-γ) on Cells of the Innate Immune System: Functional, Biochemical and Gene Expression Studies in Patients With Chronic Granulomatous Disease Recruiting NCT03548818 Interferon Gamma-1B
48 Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 Recruiting NCT02116764
49 Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995 Recruiting NCT02082353
50 Lentiviral Gene Therapy for CGD Recruiting NCT03645486 Not Applicable

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 30

Anatomical Context for Chronic Granulomatous Disease

MalaCards organs/tissues related to Chronic Granulomatous Disease:

42
Neutrophil, Bone, Lung, Skin, Bone Marrow, Liver, Testes

Publications for Chronic Granulomatous Disease

Articles related to Chronic Granulomatous Disease:

(show top 50) (show all 1794)
# Title Authors Year
1
Tissue distribution and penetration of isavuconazole at the site of infection in Experimental Invasive Aspergillosis in Mice with underlying Chronic Granulomatous Disease. ( 30988140 )
2019
2
A Case of Allergic Broncopulmonary Aspergillosis Associated With Hematopoietic Stem Cell Transplantation Due to Chronic Granulomatous Disease. ( 30095689 )
2019
3
Immunopathology of Aspergillus Infections in Children With Chronic Granulomatous Disease and Cystic Fibrosis. ( 30531311 )
2019
4
A rare case of a prostatic abscess, bacteremia and chronic granulomatous disease associated with Klebsiella pneumoniae. ( 30642769 )
2019
5
NCF1 (p47phox)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis. ( 30651282 )
2019
6
Clinical and genetic characteristics of Chinese pediatric patients with chronic granulomatous disease. ( 30716179 )
2019
7
Genetic and Clinical Profiles of Disseminated Bacillus Calmette-Guérin Disease and Chronic Granulomatous Disease in China. ( 30761141 )
2019
8
Novel Diagnostic Tool for p47 phox -Deficient Chronic Granulomatous Disease Patient and Carrier Detection. ( 30859112 )
2019
9
Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom. ( 30868346 )
2019
10
Efficacy of olorofim (F901318) against Aspergillus fumigatus, A. nidulans, and A. tanneri in murine models of profound neutropenia and chronic granulomatous disease. ( 30885903 )
2019
11
Chromosome Transplantation: Correction of the Chronic Granulomatous Disease Defect in Mouse iPSCs. ( 30895693 )
2019
12
Common Infections and Target Organs Associated with Chronic Granulomatous Disease in Iran. ( 30904913 )
2019
13
Regulatory T cell features in Chronic Granulomatous Disease. ( 30924925 )
2019
14
Two decades of excellent transplant survival in children with chronic granulomatous disease. ( 30952673 )
2019
15
Genetic and molecular findings of 38 Iranian patients with chronic granulomatous disease caused by p47-phox defect. ( 30963593 )
2019
16
Thymitis in chronic granulomatous disease. ( 30983070 )
2019
17
A Novel Mutation in Chronic Granulomatous Disease: Treating the Family, Not Just the Patient. ( 30984725 )
2019
18
Fatal Meningitis in Patient with X-Linked Chronic Granulomatous Disease Caused by Virulent Granulibacter bethesdensis. ( 31002074 )
2019
19
Rasamsonia argillacea species complex myocarditis in a patient with chronic granulomatous disease. ( 31011375 )
2019
20
Successful Lung Transplantation in a Patient with Chronic Granulomatous Disease. ( 31016643 )
2019
21
Clinical Manifestations in Carriers of X-Linked Chronic Granulomatous Disease in Mexico. ( 31017111 )
2019
22
Colonoscopic 'leopard sign' in chronic granulomatous disease. ( 31023706 )
2019
23
Rasamsonia sp: An emerging infection amongst chronic granulomatous disease patients. A case of disseminated infection by a putatively novel Rasamsonia argillacea species complex involving the heart. ( 31032179 )
2019
24
Tamoxifen restores extracellular trap formation in neutrophils from patients of chronic granulomatous disease, in ROS-independent manner. ( 31039377 )
2019
25
Recurrent episodes of pneumonia in a toddler: Don't forget chronic granulomatous disease. ( 31041287 )
2019
26
Recent Advances in Gene Therapy and Modeling of Chronic Granulomatous Disease. ( 31066249 )
2019
27
Role of Allogeneic Hematopoietic Stem Cell Transplant for Chronic Granulomatous Disease (CGD): a Report of the United States Immunodeficiency Network. ( 31111420 )
2019
28
Severe Multisystem Involvement of Chronic Granulomatous Disease in a Pediatric Patient. ( 29741690 )
2019
29
A prospective study of allogeneic transplantation from unrelated donors for chronic granulomatous disease with target busulfan-based reduced-intensity conditioning. ( 29959437 )
2019
30
Gene expression in chronic granulomatous disease and interferon-γ receptor-deficient cells treated in vitro with interferon-γ. ( 30260027 )
2019
31
EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease. ( 30312704 )
2019
32
Allogeneic hematopoietic stem cell transplantation in adolescent patients with chronic granulomatous disease. ( 30391552 )
2019
33
Exogenous Stimulation of Type I Interferon Protects Mice with Chronic Granulomatous Disease from Aspergillosis through Early Recruitment of Host-Protective Neutrophils into the Lung. ( 29588403 )
2018
34
High Incidence of Autoimmune Disease after Hematopoietic Stem Cell Transplantation for Chronic Granulomatous Disease. ( 29630926 )
2018
35
Salmonella Enteritidis cholecystitis with chronic granulomatous disease. ( 29942748 )
2018
36
An adult autosomal recessive chronic granulomatous disease patient with pulmonary Aspergillus terreus infection. ( 30409207 )
2018
37
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients. ( 30470980 )
2018
38
Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease. ( 30633606 )
2018
39
Papulopustular Dermatitis in X-Linked Chronic Granulomatous Disease. ( 30766861 )
2018
40
X-linked carriers of chronic granulomatous disease: Illness, lyonization, and stability. ( 28528201 )
2018
41
Seven chronic granulomatous disease cases in a single-center experience and a review of the literature. ( 28577521 )
2018
42
Nine patients with chronic granulomatous disease having selective neck dissection for severe cervical lymphadenitis. ( 28727298 )
2018
43
Cytologic and Ultrastructural Findings of Bronchoalveolar Lavage in Patients With Chronic Granulomatous Disease. ( 29050515 )
2018
44
Comment on: Phenotypic Prenatal Diagnosis of Chronic Granulomatous Disease: A Useful Tool in the Absence of Molecular Diagnosis. ( 29119580 )
2018
45
Successful transcatheter arterial antimicrobial and steroid therapy for refractory liver abscess in chronic granulomatous disease: A case report and review of literature. ( 29132925 )
2018
46
Long-term observational studies of chronic granulomatous disease. ( 29135572 )
2018
47
The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease. ( 29145578 )
2018
48
Chronic Granulomatous Disease in children: a single center experience. ( 29223406 )
2018
49
Hypersensitive Pneumonitis: an Initial Presentation of Chronic Granulomatous Disease in a Child. ( 29302845 )
2018
50
Haploidentical stem cell transplantation in a boy with chronic granulomatous disease. ( 29373243 )
2018

Variations for Chronic Granulomatous Disease

ClinVar genetic disease variations for Chronic Granulomatous Disease:

6 (show top 50) (show all 136)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCF2 NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306575 GRCh37 Chromosome 1, 183532437: 183532437
2 NCF2 NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs13306575 GRCh38 Chromosome 1, 183563302: 183563302
3 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh37 Chromosome 16, 88709882: 88709882
4 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh38 Chromosome 16, 88643474: 88643474
5 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh37 Chromosome X, 37658225: 37658225
6 CYBB NM_000397.3(CYBB): c.692A> C (p.Gln231Pro) single nucleotide variant Pathogenic rs151344498 GRCh38 Chromosome X, 37798972: 37798972
7 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh37 Chromosome X, 37655252: 37655252
8 CYBB NM_000397.3(CYBB): c.532A> C (p.Thr178Pro) single nucleotide variant Pathogenic rs151344497 GRCh38 Chromosome X, 37795999: 37795999
9 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh37 Chromosome 22, 37263476: 37263476
10 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh38 Chromosome 22, 36867434: 36867434
11 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh37 Chromosome 1, 183542323: 183542323
12 NCF2 NM_000433.3(NCF2): c.606G> A (p.Ala202=) single nucleotide variant Benign/Likely benign rs17849501 GRCh38 Chromosome 1, 183573188: 183573188
13 NCF4 NM_013416.3(NCF4): c.143_152dup (p.Lys52Argfs) duplication Pathogenic rs869025585 GRCh37 Chromosome 22, 37260986: 37260995
14 NCF4 NM_013416.3(NCF4): c.143_152dup (p.Lys52Argfs) duplication Pathogenic rs869025585 GRCh38 Chromosome 22, 36864944: 36864953
15 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh37 Chromosome 1, 183532580: 183532580
16 NCF2 NM_000433.3(NCF2): c.1167C> A (p.His389Gln) single nucleotide variant Benign/Likely benign rs17849502 GRCh38 Chromosome 1, 183563445: 183563445
17 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh37 Chromosome 1, 183533175: 183533175
18 NCF2 NM_000433.3(NCF2): c.1001-10T> G single nucleotide variant Conflicting interpretations of pathogenicity rs36113295 GRCh38 Chromosome 1, 183564040: 183564040
19 NCF2 NM_000433.3(NCF2): c.542A> G (p.Lys181Arg) single nucleotide variant Benign rs2274064 GRCh37 Chromosome 1, 183542387: 183542387
20 NCF2 NM_000433.3(NCF2): c.542A> G (p.Lys181Arg) single nucleotide variant Benign rs2274064 GRCh38 Chromosome 1, 183573252: 183573252
21 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh37 Chromosome 22, 37260123: 37260123
22 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh38 Chromosome 22, 36864081: 36864081
23 NCF4 NM_013416.3(NCF4): c.628-14C> A single nucleotide variant Conflicting interpretations of pathogenicity rs56071149 GRCh37 Chromosome 22, 37271681: 37271681
24 NCF4 NM_013416.3(NCF4): c.628-14C> A single nucleotide variant Conflicting interpretations of pathogenicity rs56071149 GRCh38 Chromosome 22, 36875639: 36875639
25 NCF4 NM_013416.3(NCF4): c.735C> T (p.Tyr245=) single nucleotide variant Benign/Likely benign rs2072712 GRCh38 Chromosome 22, 36875760: 36875760
26 NCF4 NM_013416.3(NCF4): c.735C> T (p.Tyr245=) single nucleotide variant Benign/Likely benign rs2072712 GRCh37 Chromosome 22, 37271802: 37271802
27 NCF4 NM_013416.3(NCF4): c.815T> C (p.Leu272Pro) single nucleotide variant Benign rs2075939 GRCh38 Chromosome 22, 36875840: 36875840
28 NCF4 NM_013416.3(NCF4): c.815T> C (p.Leu272Pro) single nucleotide variant Benign rs2075939 GRCh37 Chromosome 22, 37271882: 37271882
29 NCF4 NM_013416.3(NCF4): c.*95G> A single nucleotide variant Benign rs11552115 GRCh38 Chromosome 22, 36877700: 36877700
30 NCF4 NM_013416.3(NCF4): c.*95G> A single nucleotide variant Benign rs11552115 GRCh37 Chromosome 22, 37273742: 37273742
31 NCF2 NM_000433.3(NCF2): c.*517dupT duplication Uncertain significance rs573207861 GRCh37 Chromosome 1, 183524736: 183524736
32 NCF2 NM_000433.3(NCF2): c.*517dupT duplication Uncertain significance rs573207861 GRCh38 Chromosome 1, 183555601: 183555601
33 NCF2 NM_000433.3(NCF2): c.*508_*512dupGGTTA duplication Uncertain significance rs555649211 GRCh37 Chromosome 1, 183524741: 183524745
34 NCF2 NM_000433.3(NCF2): c.*508_*512dupGGTTA duplication Uncertain significance rs555649211 GRCh38 Chromosome 1, 183555606: 183555610
35 NCF2 NM_000433.3(NCF2): c.*510T> A single nucleotide variant Uncertain significance rs886045646 GRCh37 Chromosome 1, 183524743: 183524743
36 NCF2 NM_000433.3(NCF2): c.*510T> A single nucleotide variant Uncertain significance rs886045646 GRCh38 Chromosome 1, 183555608: 183555608
37 NCF2 NM_000433.3(NCF2): c.*398G> T single nucleotide variant Benign rs796860 GRCh37 Chromosome 1, 183524855: 183524855
38 NCF2 NM_000433.3(NCF2): c.*398G> T single nucleotide variant Benign rs796860 GRCh38 Chromosome 1, 183555720: 183555720
39 NCF2 NM_000433.3(NCF2): c.1498A> G (p.Lys500Glu) single nucleotide variant Uncertain significance rs886045651 GRCh38 Chromosome 1, 183556201: 183556201
40 NCF2 NM_000433.3(NCF2): c.1498A> G (p.Lys500Glu) single nucleotide variant Uncertain significance rs886045651 GRCh37 Chromosome 1, 183525336: 183525336
41 NCF2 NM_000433.3(NCF2): c.1084G> A (p.Val362Ile) single nucleotide variant Uncertain significance rs886045656 GRCh38 Chromosome 1, 183563528: 183563528
42 NCF2 NM_000433.3(NCF2): c.1084G> A (p.Val362Ile) single nucleotide variant Uncertain significance rs886045656 GRCh37 Chromosome 1, 183532663: 183532663
43 NCF2 NM_000433.3(NCF2): c.443C> T (p.Thr148Met) single nucleotide variant Uncertain significance rs764142541 GRCh38 Chromosome 1, 183574545: 183574545
44 NCF2 NM_000433.3(NCF2): c.443C> T (p.Thr148Met) single nucleotide variant Uncertain significance rs764142541 GRCh37 Chromosome 1, 183543680: 183543680
45 NCF2 NM_000433.3(NCF2): c.*543_*546delGTTT deletion Uncertain significance rs376681445 GRCh37 Chromosome 1, 183524707: 183524710
46 NCF2 NM_000433.3(NCF2): c.*543_*546delGTTT deletion Uncertain significance rs376681445 GRCh38 Chromosome 1, 183555572: 183555575
47 NCF2 NM_000433.3(NCF2): c.*397_*398insTCA insertion Uncertain significance rs886045648 GRCh37 Chromosome 1, 183524855: 183524856
48 NCF2 NM_000433.3(NCF2): c.*397_*398insTCA insertion Uncertain significance rs886045648 GRCh38 Chromosome 1, 183555720: 183555721
49 NCF2 NM_000433.3(NCF2): c.*393dupA duplication Uncertain significance rs771465757 GRCh38 Chromosome 1, 183555725: 183555725
50 NCF2 NM_000433.3(NCF2): c.*393dupA duplication Uncertain significance rs771465757 GRCh37 Chromosome 1, 183524860: 183524860

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:

38
# 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 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.32 CYBA CYBB NCF1 NCF2 NCF4 NOX1
2
Show member pathways
13.18 CLEC11A CSF2 CYBB IL1B NCF1 NCF2
3
Show member pathways
13.05 CAT CYBA CYBB NCF1 NCF2 NCF4
4
Show member pathways
12.95 CYBA CYBB NCF1 NCF2 NCF4 NOX1
5
Show member pathways
12.58 CYBA CYBB NCF1 NCF2 NCF4 RAC2
6 12.5 IFNG IL1B MECOM MPO NCF1 NCF4
7
Show member pathways
12.43 CYBA CYBB NCF1 NCF2 NCF4
8
Show member pathways
12.42 CYBA CYBB NCF1 NCF2 NCF4
9
Show member pathways
12.28 CYBA CYBB NCF1 NCF2 RAC2
10
Show member pathways
12.27 CLEC11A CYBA CYBB NCF1 NCF2 NOX1
11
Show member pathways
12.24 CAT IFNG IL1B MPO
12
Show member pathways
12.14 CYBA CYBB IFNG IL1B NCF1 NCF2
13
Show member pathways
12.11 CYBA CYBB IL1B NCF1 NCF2 NCF4
14 12.03 CYBA CYBB MPO NCF1 NCF2 NCF4
15 11.96 CYBA CYBB NCF1 NCF2 RAC2
16 11.94 CYBA IFNG IL1B NCF1 NCF2 NOX1
17 11.9 CSF2 IFNG MPO
18 11.83 CYBB IL1B NOX1
19 11.81 CYBA IFNG IL1B NCF1 NCF2 NCF4
20 11.8 CSF2 IFNG IL1B
21 11.77 CSF2 IFNG IL1B
22 11.73 CSF2 IFNG IL1B
23 11.66 CSF2 IFNG IL1B
24 11.64 CSF2 IFNG IL1B
25
Show member pathways
11.57 CSF2 IFNG IL1B
26 11.34 CYBB IFNG IL1B
27 11.27 CYBA CYBB NCF1 NCF2 RAC2
28 11.21 CSF2 IFNG IL1B
29
Show member pathways
11.17 CAT CYBA CYBB NCF1 NCF2 NCF4
30 11.11 CYBA NCF4 RAC2
31 10.94 CLEC11A CSF2 IL1B NCF2 RAC2
32 10.86 IL1B MPO
33 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:

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

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.99 CYBA CYBB CYBC1 NCF1 NCF2
2 positive regulation of cell proliferation GO:0008284 9.95 CLEC11A CSF2 IFNG IL1B NOX1 RAC2
3 response to drug GO:0042493 9.8 CAT CYBA CYBB MT-CYB
4 positive regulation of catalytic activity GO:0043085 9.78 NCF1C NCF2 NCF4
5 cellular response to oxidative stress GO:0034599 9.77 CAT CYBA CYBB
6 positive regulation of JNK cascade GO:0046330 9.76 IL1B NCF1 NOX1
7 response to hypoxia GO:0001666 9.74 CAT CYBA MT-CYB
8 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.72 CYBA CYBB NCF1 NCF2 NCF4
9 electron transport chain GO:0022900 9.67 CYBA CYBB NCF1 NCF2
10 response to ethanol GO:0045471 9.62 CAT MT-CYB
11 positive regulation of membrane protein ectodomain proteolysis GO:0051044 9.62 IFNG IL1B
12 response to hyperoxia GO:0055093 9.61 CAT MT-CYB
13 hydrogen peroxide biosynthetic process GO:0050665 9.58 CYBA CYBB
14 cellular magnesium ion homeostasis GO:0010961 9.56 KEL XK
15 positive regulation of interleukin-23 production GO:0032747 9.55 CSF2 IFNG
16 superoxide anion generation GO:0042554 9.55 CYBA CYBB NCF1 NCF2 NOX1
17 regulation of axon diameter GO:0031133 9.54 KEL XK
18 cellular response to L-glutamine GO:1904845 9.46 CYBA CYBB
19 positive regulation of calcidiol 1-monooxygenase activity GO:0060559 9.43 IFNG IL1B
20 superoxide metabolic process GO:0006801 9.43 CYBA CYBB NCF1 NCF1C NCF2 NCF4
21 response to aldosterone GO:1904044 9.4 CYBA CYBB
22 response to L-ascorbic acid GO:0033591 9.22 CAT
23 response to ozone GO:0010193 9.21 CAT
24 respiratory burst GO:0045730 9.17 CYBA CYBB NCF1 NCF1C NCF2 NCF4
25 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 heme binding GO:0020037 9.62 CAT CYBA CYBB MPO
3 electron transfer activity GO:0009055 9.55 CYBA CYBB MT-CYB NCF1 NCF2
4 phosphatidylinositol binding GO:0035091 9.54 NCF1 NCF1C NCF4
5 superoxide-generating NADPH oxidase activator activity GO:0016176 9.26 NCF1 NCF1C NCF2 NCF4
6 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
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....