MCID: CHR340
MIFTS: 36

Chronic Granulomatous Disease, X-Linked

Categories: Genetic diseases

Aliases & Classifications for Chronic Granulomatous Disease, X-Linked

MalaCards integrated aliases for Chronic Granulomatous Disease, X-Linked:

Name: Chronic Granulomatous Disease, X-Linked 54 24 29 13
Chronic Granulomatous Disease Cytochrome B-Negative X-Linked 71
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked 71
Chronic Granulomatous Disease Cytochrome-B-Negative X-Linked 71
Chronic Granulomatous Disease Cytochrome-B-Positive X-Linked 71
Granulomatous Disease, Chronic, X-Linked 71
Cgd 71

Characteristics:

OMIM:

54
Miscellaneous:
onset usually in first decade
four types of cgd with basically identical clinical phenotypes
autosomal recessive cytochrome b-negative cgd
autosomal recessive cytochrome b-positive cgd, type i
autosomal recessive cytochrome b-positive cgd, type ii
'variant' form of x-linked cgd retains residual cytochrome b(-245)
x-linked recessive cytochrome b-negative cgd

Inheritance:
x-linked recessive


HPO:

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


Classifications:



Summaries for Chronic Granulomatous Disease, X-Linked

OMIM : 54
Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of phagocytes to kill microbes that they have ingested. This impairment in killing is caused by any of several defects in the phagocyte NADPH oxidase (phox) complex, which generates the microbicidal 'respiratory burst' (reviewed by Dinauer et al., 2001 and Johnston, 2001). (306400)

MalaCards based summary : Chronic Granulomatous Disease, X-Linked, also known as chronic granulomatous disease cytochrome b-negative x-linked, is related to chronic granulomatous disease, and has symptoms including hepatomegaly, splenomegaly and hepatic abscesses due to immunodeficiency. An important gene associated with Chronic Granulomatous Disease, X-Linked is CYBB (Cytochrome B-245 Beta Chain). The drugs Niacin and Nicotinamide have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, testes and liver.

UniProtKB/Swiss-Prot : 71 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 10.2

Symptoms & Phenotypes for Chronic Granulomatous Disease, X-Linked

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Respiratory- Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Laboratory- Abnormalities:
negative nitroblue tetrazolium (nbt) reduction test
decreased activity of nadph oxidase
deficiency or absence of cytochrome b(-245)
deficiency or absence of p91-phox protein
deficiency or absence of p22-phox protein

Abdomen- Spleen:
splenomegaly

Abdomen- Gastroin testinal:
perirectal abscesses due to immunodeficiency

Skin Nails & Hair- Skin:
eczematoid dermatitis
discoid lupus in carriers or adults with mild disease
dermatitis, infectious, due to immunodeficiency impetigo

Immunology:
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
abscess formation in any organ
lymphadenitis
more

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

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 84)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Niacin Approved, Investigational, Nutraceutical Phase 4 59-67-6 938
2
Nicotinamide Approved, Nutraceutical Phase 4 98-92-0 936
3 Anti-Infective Agents Phase 4,Phase 2
4 Antiviral Agents Phase 4,Phase 2
5 Interferon-gamma Phase 4
6 interferons Phase 4
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
Busulfan Approved, Investigational Phase 1, Phase 2, Early Phase 1 55-98-1 2478
11
Fludarabine Approved Phase 1, Phase 2, Early Phase 1 21679-14-1, 75607-67-9 30751
12
Cyclophosphamide Approved, Investigational Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
13
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
14
Posaconazole Approved, Investigational, Vet_approved Phase 2 171228-49-2 147912
15
Itraconazole Approved, Investigational Phase 2 84625-61-6 55283
16
Ibuprofen Approved Phase 2 15687-27-1 3672
17
Melphalan Approved Phase 2 148-82-3 4053 460612
18
Methylprednisolone Approved, Vet_approved Phase 2 83-43-2 6741
19
Prednisolone Approved, Vet_approved Phase 2 50-24-8 5755
20
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
21
Pioglitazone Approved, Investigational Phase 1, Phase 2 111025-46-8 4829
22
Adalimumab Approved Phase 1, Phase 2 331731-18-1 16219006
23
Infliximab Approved Phase 1, Phase 2 170277-31-3
24 Alkylating Agents Phase 1, Phase 2, Early Phase 1
25 Immunosuppressive Agents Phase 1, Phase 2, Early Phase 1
26 Antifungal Agents Phase 2
27 Antiparasitic Agents Phase 2
28 Antiprotozoal Agents Phase 2
29 Cytochrome P-450 Enzyme Inhibitors Phase 2
30 Hormone Antagonists Phase 2
31 Hormones Phase 2
32 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
33 Steroid Synthesis Inhibitors Phase 2
34 Cytochrome P-450 CYP3A Inhibitors Phase 2
35 Hydroxyitraconazole Phase 2
36 Analgesics Phase 2
37 Analgesics, Non-Narcotic Phase 2
38 Anti-HIV Agents Phase 2
39 Anti-Inflammatory Agents Phase 2,Phase 1
40 Anti-Inflammatory Agents, Non-Steroidal Phase 2
41 Anti-Retroviral Agents Phase 2
42 Antirheumatic Agents Phase 2,Phase 1,Early Phase 1
43 Cyclooxygenase Inhibitors Phase 2
44 JM 3100 Phase 2
45 Peripheral Nervous System Agents Phase 2
46 Cyclosporins Phase 2
47 Methylprednisolone acetate Phase 2
48 Methylprednisolone Hemisuccinate Phase 2
49 Prednisolone acetate Phase 2
50 Prednisolone hemisuccinate Phase 2

Interventional clinical trials:

(show all 39)

id 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 Gene Therapy for Chronic Granulomatous Disease Unknown status NCT00564759 Phase 1, Phase 2 retroviral SF71-gp91phox transduced CD34+ cells
5 Targeted Busulfan, Fludarabine Conditioning Regimen for Hematopoietic Stem Cell Transplantation in Chronic Granulomatous Disease(CGD) Unknown status NCT01338675 Phase 1, Phase 2 Busulfan
6 Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children Completed NCT00927134 Phase 1, Phase 2
7 Modified Stem Cell Transplantation Procedure for Treating Chronic Granulomatous Disease Completed NCT00006417 Phase 2
8 Pharmacokinetics of Posaconazole in Children With Chronic Granulomatous Disease (CGD) Completed NCT00799071 Phase 2 posaconazole (PSZ)
9 Itraconazole for the Prevention of Fungal Infections in Chronic Granulomatous Disease Completed NCT00001280 Phase 2 itraconazole
10 Unrelated Hematopoietic Stem Cell Transplantation(HSCT) for Genetic Diseases of Blood Cells Completed NCT00730314 Phase 1, Phase 2
11 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
12 Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
13 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
14 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
15 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
16 Reduced Intensity Conditioning for Hemophagocytic Syndromes or Selected Primary Immune Deficiencies (BMT CTN 1204) Active, not recruiting NCT01998633 Phase 2
17 Matched Unrelated or Non-Genotype Identical Related Donor Transplantation For Chronic Granulomatous Disease Active, not recruiting NCT00578643 Phase 2 Busulfan;Cyclophosphamide;Fludarabine;Cyclosporine
18 Pioglitazone Therapy for Chronic Granulomatous Disease Not yet recruiting NCT03080480 Phase 1, Phase 2 Pioglitazone
19 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Suspended NCT02234934 Phase 1, Phase 2
20 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
21 Infliximab to Treat Crohn'S-like Inflammatory Bowel Disease in Chronic Granulomatous Disease Terminated NCT00325078 Phase 1, Phase 2 Infliximab
22 Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD) Withdrawn NCT01381003 Phase 1, Phase 2
23 Stem Cell Transplant Following Low-Intensity Chemotherapy to Treat Chronic Granulomatous Disease Completed NCT00001765 Phase 1
24 Gene Therapy for Chronic Granulomatous Diseases - Long-term Follow-up Completed NCT00001476 Phase 1 Gene Therapy Method for CGD
25 Radiofrequency Ablation for Liver Abscesses From Chronic Granulomatous Disease Recruiting NCT01851460 Phase 1
26 Chronic Granulomatous Disease Study in China Unknown status NCT02231996
27 Evaluating the Transition From Pediatric to Adult Care Among Adolescents With Chronic Granulomatous Disease Completed NCT02233036
28 Learning and Behavior Problems in Children With Chronic Granulomatous Disease and Related Disorders Completed NCT00005933
29 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
30 Use of G-CSF to Obtain Blood Cell Precursors Recruiting NCT00001405
31 Evaluation of Patients With Immune Function Abnormalities Recruiting NCT00128973
32 Analysis of Patients Treated for Chronic Granulomatous Disease Since January 1, 1995 Recruiting NCT02116764
33 Patients Treated for Chronic Granulomatous Disease (CGD) Since 1995 Recruiting NCT02082353
34 Natural History of Intestinal Inflammation in People With Primary Immune Dysregulations Recruiting NCT03278912
35 Non-Invasive Assessment of Atherosclerosis in Patients With CGD and Other Disorders of the Immune System Recruiting NCT01063309
36 Haploidentical Transplant for People With Chronic Granulomatous Disease Using Post Transplant Cyclophosphamide Active, not recruiting NCT02282904 Early Phase 1 Pre-Transplant Conditioning Medications;Post-Trasnplant Medications
37 Gene Therapy for Chronic Granulomatous Disease Terminated NCT00394316 Early Phase 1 Phagocyte Oxidase Subunit Transduced CD34 Hematopoietic Stem Cells
38 Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease. Terminated NCT02926963
39 Allogeneic Bone Marrow Transplantation in Patients With Primary Immunodeficiencies Terminated NCT00006054 anti-thymocyte globulin;busulfan;cyclophosphamide;cyclosporine;etoposide;methotrexate;methylprednisolone;prednisone

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, Liver, Bone, Skin, Bone Marrow

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:

71 (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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