CGD
MCID: CHR340
MIFTS: 35

Chronic Granulomatous Disease, X-Linked (CGD) malady

Categories: Genetic diseases

Aliases & Classifications for Chronic Granulomatous Disease, X-Linked

Aliases & Descriptions for Chronic Granulomatous Disease, X-Linked:

Name: Chronic Granulomatous Disease, X-Linked 54 24 13
Granulomatous Disease, Chronic, X-Linked 66 29
Chronic Granulomatous Disease Cytochrome B-Negative X-Linked 66
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked 66
Chronic Granulomatous Disease Cytochrome-B-Negative X-Linked 66
Chronic Granulomatous Disease Cytochrome-B-Positive X-Linked 66
Cgd 66

Characteristics:

HPO:

32
chronic granulomatous disease, x-linked:
Onset and clinical course juvenile onset
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 306400
MeSH 42 D006105

Summaries for Chronic Granulomatous Disease, X-Linked

OMIM : 54 Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of... (306400) more...

MalaCards based summary : Chronic Granulomatous Disease, X-Linked, also known as granulomatous disease, chronic, x-linked, is related to chronic granulomatous disease, and has symptoms including splenomegaly, hepatomegaly and recurrent pneumonia. An important gene associated with Chronic Granulomatous Disease, X-Linked is CYBB (Cytochrome B-245 Beta Chain). The drugs Anti-Infective Agents and Antiviral Agents have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, testes and skin.

UniProtKB/Swiss-Prot : 66 Granulomatous disease, chronic, X-linked: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

Related Diseases for Chronic Granulomatous Disease, X-Linked

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

id Related Disease Score Top Affiliating Genes
1 chronic granulomatous disease 11.6

Symptoms & Phenotypes for Chronic Granulomatous Disease, X-Linked

Symptoms by clinical synopsis from OMIM:

306400

Clinical features from OMIM:

306400

Human phenotypes related to Chronic Granulomatous Disease, X-Linked:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 recurrent pneumonia 32 HP:0006532
4 lymphadenopathy 32 HP:0002716
5 recurrent bacterial skin infections 32 HP:0005406
6 granulomatosis 32 HP:0002955
7 recurrent aspergillus infections 32 HP:0002724
8 osteomyelitis due to immunodeficiency 32 HP:0002755
9 lymphadenitis 32 HP:0002840
10 rectal abscess 32 HP:0005224
11 eczematoid dermatitis 32 HP:0000976
12 recurrent staphylococcus aureus infections 32 HP:0002726
13 discoid lupus rash 32 HP:0007417
14 hepatic abscesses due to immunodeficiency 32 HP:0001400
15 absence of bactericidal oxidative 'respiratory burst' in phagocytes 32 HP:0002723
16 recurrent e. coli infections 32 HP:0002740
17 recurrent serratia marcescens infections 32 HP:0002741
18 recurrent klebsiella infections 32 HP:0002742
19 recurrent burkholderia cepacia infections 32 HP:0002842
20 negative nitroblue tetrazolium reduction test 32 HP:0003203
21 decreased activity of nadph oxidase 32 HP:0003206
22 deficiency or absence of cytochrome b(-245) 32 HP:0003514
23 cellulitis due to immunodeficiency 32 HP:0003553

Drugs & Therapeutics for Chronic Granulomatous Disease, X-Linked

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

(show top 50) (show all 98)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
2 Antiviral Agents Phase 4,Phase 2,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 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
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
Ibuprofen Approved Phase 2 15687-27-1 3672
22
Melphalan Approved Phase 2 148-82-3 4053 460612
23
Thiotepa Approved Phase 2 52-24-4 5453
24
Acetaminophen Approved Phase 2 103-90-2 1983
25
Diphenhydramine Approved Phase 2 58-73-1, 147-24-0 3100
26
Epinephrine Approved, Vet_approved Phase 2 51-43-4 5816
27
Hydroxyurea Approved Phase 2 127-07-1 3657
28
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
29
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
30
Promethazine Approved Phase 2 60-87-7 4927
31
Vidarabine Approved Phase 2 24356-66-9 32326 21704
32
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
33
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
34
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
35
Infliximab Approved Phase 1, Phase 2 170277-31-3
36 Alkylating Agents Phase 1, Phase 2, Early Phase 1
37 Antineoplastic Agents, Alkylating Phase 1, Phase 2, Early Phase 1
38 Immunosuppressive Agents Phase 1, Phase 2, Early Phase 1
39 Cytochrome P-450 CYP3A Inhibitors Phase 2
40 Hydroxyitraconazole Phase 2
41 Antirheumatic Agents Phase 2,Phase 1,Early Phase 1
42 Antimetabolites Phase 2
43 Antimetabolites, Antineoplastic Phase 2
44 Calcineurin Inhibitors Phase 2
45 Dermatologic Agents Phase 2,Phase 1
46 Anti-Bacterial Agents Phase 2
47 Antibiotics, Antitubercular Phase 2
48 Analgesics Phase 2
49 Analgesics, Non-Narcotic Phase 2
50 Anti-HIV Agents Phase 2

Interventional clinical trials:

(show top 50) (show all 51)
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 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, 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 (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
15 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
16 Combination of Ibuprofen, G-CSF and Plerixafor as Stem Cells Mobilization Regimen in Patients Affected by X-CGD Recruiting NCT03055247 Phase 2
17 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Recruiting NCT00578643 Phase 2
18 Immune Disorder HSCT Protocol Recruiting NCT01821781 Phase 2
19 Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT Recruiting NCT01962415 Phase 2
20 Sequential Cadaveric Lung and Bone Marrow Transplant for Immune Deficiency Diseases Recruiting NCT01852370 Phase 1, Phase 2
21 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2
22 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
23 Pioglitazone Therapy for Chronic Granulomatous Disease Not yet recruiting NCT03080480 Phase 1, Phase 2
24 Related Hematopoietic Stem Cell Transplantation (HSCT) for Genetic Diseases of Blood Cells Terminated NCT02512679 Phase 2
25 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2
26 Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD) Withdrawn NCT01381003 Phase 1, Phase 2
27 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease Completed NCT00001765 Phase 1
28 Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up Completed NCT00001476 Phase 1
29 Diagnostic Effectiveness of Virtual Bronchoscopy Completed NCT00001515 Phase 1
30 Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1
31 Effect of IFN-γ on Innate Immune Cells Recruiting NCT02609932 Phase 1
32 BMT Abatacept for Non-Malignant Diseases Recruiting NCT01917708 Phase 1
33 Chronic Granulomatous Disease Study in China Unknown status NCT02231996
34 Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease Completed NCT02233036
35 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
36 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
37 High Dose Peripheral Blood Stem Cell Transplantation With Post Transplant Cyclophosphamide for Patients With Chronic Granulomatous Disease Recruiting NCT02629120 Early Phase 1
38 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
39 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
40 Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease. Recruiting NCT02926963
41 Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 Recruiting NCT02116764
42 Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995 Recruiting NCT02082353
43 Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System Recruiting NCT01063309
44 Allogeneic Hematopoietic Stem Cell Transplant for Patients With Primary Immune Deficiencies Recruiting NCT01652092
45 Study of Voicing My CHOiCES as a Tool for Advanced Care Planning in Young Adults With Cancer Recruiting NCT02108028
46 Detection and Characterization of Infections and Infection Susceptibility Recruiting NCT00404560
47 Collection of Lung Fluid and Tissue Samples for Research Recruiting NCT00471250
48 Haploidentical Transplant for People With Chronic Granulomatous Disease Using Post Transplant Cyclophosphamide Suspended NCT02282904 Early Phase 1
49 Gene Therapy for Chronic Granulomatous Disease Terminated NCT00394316 Early Phase 1
50 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054

Search NIH Clinical Center for Chronic Granulomatous Disease, X-Linked

Genetic Tests for Chronic Granulomatous Disease, X-Linked

Genetic tests related to Chronic Granulomatous Disease, X-Linked:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, X-Linked 29 24 CYBB

Anatomical Context for Chronic Granulomatous Disease, X-Linked

MalaCards organs/tissues related to Chronic Granulomatous Disease, X-Linked:

39
Neutrophil, Testes, Skin

Publications for Chronic Granulomatous Disease, X-Linked

Variations for Chronic Granulomatous Disease, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Chronic Granulomatous Disease, X-Linked:

66 (show top 50) (show all 63)
id Symbol AA change Variation ID SNP ID
1 CYBB p.His101Arg VAR_002432 rs137854591
2 CYBB p.Ala156Thr VAR_002433 rs137854590
3 CYBB p.His209Tyr VAR_002434 rs137854587
4 CYBB p.Glu225Val VAR_002435 rs151344494
5 CYBB p.Cys244Ser VAR_002436 rs137854589
6 CYBB p.Cys244Tyr VAR_002437 rs137854589
7 CYBB p.Pro339His VAR_002438 rs151344470
8 CYBB p.Gly389Ala VAR_002439 rs137854586
9 CYBB p.Pro415His VAR_002440 rs137854585
10 CYBB p.Asp500Gly VAR_002441 rs137854593
11 CYBB p.Gly20Arg VAR_007873 rs151344455
12 CYBB p.Arg54Ser VAR_007874 rs151344456
13 CYBB p.Cys59Arg VAR_007875 rs151344457
14 CYBB p.His101Tyr VAR_007876 rs137854594
15 CYBB p.His119Arg VAR_007877 rs151344458
16 CYBB p.His209Gln VAR_007878 rs151344459
17 CYBB p.His222Asn VAR_007880 rs151344460
18 CYBB p.His222Arg VAR_007881 rs151344462
19 CYBB p.His222Tyr VAR_007882 rs151344460
20 CYBB p.Gly223Leu VAR_007883 rs151344463
21 CYBB p.Cys244Arg VAR_007884 rs151344465
22 CYBB p.Glu309Lys VAR_007885 rs151344466
23 CYBB p.Gly322Glu VAR_007886 rs151344467
24 CYBB p.Ile325Phe VAR_007887 rs151344468
25 CYBB p.Ser333Pro VAR_007888 rs151344469
26 CYBB p.Arg356Pro VAR_007889 rs151344471
27 CYBB p.Met405Arg VAR_007890 rs151344472
28 CYBB p.Gly408Glu VAR_007891 rs151344474
29 CYBB p.Gly408Arg VAR_007892 rs151344473
30 CYBB p.Pro415Leu VAR_007893 rs137854585
31 CYBB p.Ser422Pro VAR_007894 rs151344475
32 CYBB p.Trp453Arg VAR_007895 rs151344476
33 CYBB p.Trp516Cys VAR_007896 rs151344477
34 CYBB p.Val534Asp VAR_007897 rs151344478
35 CYBB p.Cys537Arg VAR_007898 rs151344454
36 CYBB p.Ala57Glu VAR_008845 rs151344481
37 CYBB p.His303Asn VAR_016880 rs137854595
38 CYBB p.Pro304Arg VAR_016881 rs137854596
39 CYBB p.Tyr41Asp VAR_025613 rs151344453
40 CYBB p.Arg54Met VAR_025614 rs151344479
41 CYBB p.Ala55Asp VAR_025615 rs151344480
42 CYBB p.His209Arg VAR_025616 rs151344482
43 CYBB p.Ala224Gly VAR_025617 rs151344483
44 CYBB p.His338Tyr VAR_025618 rs151344484
45 CYBB p.Ser344Phe VAR_025619 rs151344485
46 CYBB p.Gly389Glu VAR_025621 rs137854586
47 CYBB p.Leu420Pro VAR_025622 rs151344486
48 CYBB p.Trp516Arg VAR_025623 rs151344487
49 CYBB p.Trp18Cys VAR_047264
50 CYBB p.Cys59Trp VAR_047266 rs151344488

ClinVar genetic disease variations for Chronic Granulomatous Disease, X-Linked:

6 (show all 26)
id 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.1140dupG (p.Lys381Glufs) duplication Likely pathogenic rs193922445 GRCh37 Chromosome X, 37663372: 37663372
23 CYBB NM_000397.3(CYBB): c.15delT (p.Val6Terfs) deletion Likely pathogenic rs193922446 GRCh37 Chromosome X, 37639345: 37639345
24 CYBB NM_000397.3(CYBB): c.389G> C (p.Arg130Pro) single nucleotide variant Likely pathogenic rs193922448 GRCh37 Chromosome X, 37652969: 37652969
25 CYBB NM_000397.3(CYBB): c.607G> T (p.Glu203Ter) single nucleotide variant Likely pathogenic rs193922449 GRCh37 Chromosome X, 37655327: 37655327
26 CYBB NM_000397.3(CYBB): c.66C> A (p.Asn22Lys) single nucleotide variant Likely pathogenic rs193922450 GRCh37 Chromosome X, 37641361: 37641361

Expression for Chronic Granulomatous Disease, X-Linked

Search GEO for disease gene expression data for Chronic Granulomatous Disease, X-Linked.

Pathways for Chronic Granulomatous Disease, X-Linked

GO Terms for Chronic Granulomatous Disease, X-Linked

Sources for Chronic Granulomatous Disease, X-Linked

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