CGD
MCID: GRN051
MIFTS: 58

Granulomatous Disease, Chronic, X-Linked (CGD)

Categories: Bone diseases, Genetic diseases, Immune diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, X-Linked

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

Name: Granulomatous Disease, Chronic, X-Linked 57 75 40
Chronic Granulomatous Disease, X-Linked 57 29 13 6
X-Linked Chronic Granulomatous Disease 12 15
Cdgx 57 12
Cgd 57 75
Cytochrome B-Negative Granulomatous Disease, Chronic, X-Linked 57
X-Linked Chronic Cytochrome B-Negative Granulomatous Disease 12
Chronic Granulomatous Disease Cytochrome B-Negative X-Linked 75
Chronic Granulomatous Disease Cytochrome-B-Negative X-Linked 75
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked 75
Chronic Granulomatous Disease Cytochrome-B-Positive X-Linked 75
Granulomatous Disease, Chronic, X-Linked, Variant 6

Characteristics:

OMIM:

57
Miscellaneous:
onset usually in first decade
four types of cgd with basically identical clinical phenotypes
x-linked recessive cytochrome b-negative cgd
autosomal recessive cytochrome b-positive cgd, type i
autosomal recessive cytochrome b-positive cgd, type ii
autosomal recessive cytochrome b-negative cgd
'variant' form of x-linked cgd retains residual cytochrome b(-245)

Inheritance:
x-linked recessive


HPO:

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


Classifications:



Summaries for Granulomatous Disease, Chronic, X-Linked

OMIM : 57 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 : Granulomatous Disease, Chronic, X-Linked, also known as chronic granulomatous disease, x-linked, is related to granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii and chronic granulomatous disease. An important gene associated with Granulomatous Disease, Chronic, X-Linked is CYBB (Cytochrome B-245 Beta Chain), and among its related pathways/superpathways are Cellular Senescence (REACTOME) and Signaling by Rho GTPases. The drugs Nicotinamide and Niacin have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, bone and skin, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A chronic granulomatous disease characterized by X-linked inheritance that has material basis in mutation in the CYBB gene on chromosome Xp21.1-p11.4.

UniProtKB/Swiss-Prot : 75 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 Granulomatous Disease, Chronic, X-Linked

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

(show all 36)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 30.7 CYBA CYBB NCF1 NCF2
2 chronic granulomatous disease 30.7 CYBA CYBB KEL MT-CYB NCF1 NCF2
3 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii 11.8
4 peroxisome biogenesis disorder 8a 11.6
5 granulomatous disease, chronic, autosomal recessive, cytochrome b-negative 11.4
6 46 xy gonadal dysgenesis 11.2
7 mcleod syndrome 11.0
8 peroxisome biogenesis disorder 8b 11.0
9 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 11.0
10 lupus erythematosus 10.5
11 discoid lupus erythematosus 10.4
12 hematopoietic stem cell transplantation 10.2
13 pneumonia 10.2
14 myeloperoxidase deficiency 10.1
15 aspergillosis 10.1
16 invasive aspergillosis 10.1
17 teratoma 10.1
18 acute liver failure 10.0
19 hemophagocytic lymphohistiocytosis 10.0
20 thrombocytopenia 10.0
21 colitis 10.0
22 vitamin k deficiency hemorrhagic disease 10.0
23 nocardiosis 10.0
24 viral infectious disease 10.0
25 stomatitis 10.0
26 lupus erythematosus tumidus 10.0
27 crohn's disease 10.0
28 leukemia 10.0
29 inflammatory bowel disease 10.0
30 osteomyelitis 10.0
31 gout 10.0
32 interstitial lung disease 10.0
33 lung disease 10.0
34 choreoacanthocytosis 9.9 KEL XK
35 retinitis pigmentosa 47 9.7 NCF2 NCF1 MT-CYB
36 cellulitis 9.4 CYBA CYBB NCF1 NCF2

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, X-Linked:



Diseases related to Granulomatous Disease, Chronic, X-Linked

Symptoms & Phenotypes for Granulomatous Disease, Chronic, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
Skin Nails Hair Skin:
eczematoid dermatitis
dermatitis, infectious, due to immunodeficiency impetigo
discoid lupus in carriers or adults with mild disease

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

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

Respiratory Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency


Clinical features from OMIM:

306400

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

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 immunodeficiency 32 HP:0002721
4 osteomyelitis 32 HP:0002754
5 recurrent pneumonia 32 HP:0006532
6 cellulitis 32 HP:0100658
7 liver abscess 32 HP:0100523
8 lymphadenopathy 32 HP:0002716
9 recurrent bacterial skin infections 32 HP:0005406
10 granulomatosis 32 HP:0002955
11 recurrent aspergillus infections 32 HP:0002724
12 rectal abscess 32 HP:0005224
13 decreased activity of nadph oxidase 32 HP:0003206
14 lymphadenitis 32 HP:0002840
15 eczematoid dermatitis 32 HP:0000976
16 recurrent staphylococcus aureus infections 32 HP:0002726
17 deficiency or absence of cytochrome b(-245) 32 HP:0003514
18 discoid lupus rash 32 HP:0007417
19 absence of bactericidal oxidative respiratory burst in phagocytes 32 HP:0002723
20 recurrent e. coli infections 32 HP:0002740
21 recurrent serratia marcescens infections 32 HP:0002741
22 recurrent klebsiella infections 32 HP:0002742
23 recurrent burkholderia cepacia infections 32 HP:0002842
24 negative nitroblue tetrazolium reduction test 32 HP:0003203

MGI Mouse Phenotypes related to Granulomatous Disease, Chronic, X-Linked:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.1 CYBA CYBB KEL NCF1 NCF2 XK

Drugs & Therapeutics for Granulomatous Disease, Chronic, X-Linked

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

(show all 9)
# 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 Nicotinic Acids Phase 4
4 Vitamin B3 Phase 4
5 Interferon-gamma Phase 4
6 interferons Phase 4
7 Antiviral Agents Phase 4
8 Anti-Infective Agents Phase 4
9
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Biochemical Response to Interferon-Gamma in Subjects With Specific Gene Mutation in Chronic Granulomatous Disease Terminated NCT01147042 Phase 4 IFN-gamma
2 Gene Therapy for Chronic Granulomatous Disease Unknown status NCT00564759 Phase 1, Phase 2 retroviral SF71-gp91phox transduced CD34+ cells
3 Gene Therapy for X-linked Chronic Granulomatous Disease (CGD) in Children Completed NCT00927134 Phase 1, Phase 2
4 Study of Gene Therapy Using a Lentiviral Vector to Treat X-linked Chronic Granulomatous Disease Recruiting NCT02234934 Phase 1, Phase 2
5 Gene Therapy for X-linked Chronic Granulomatous Disease Recruiting NCT02757911 Phase 1, Phase 2
6 Gene Therapy for X-linked Chronic Granulomatous Disease (X-CGD) Recruiting NCT01855685 Phase 1, Phase 2
7 Gene Therapy for X-CGD Recruiting NCT01906541 Phase 1, Phase 2
8 Gene Therapy for Chronic Granulomatous Disease in Korea Active, not recruiting NCT00778882 Phase 1, Phase 2 VM106
9 Lentiviral Gene Therapy for X-Linked Chronic Granulomatous Disease (X-CGD) Withdrawn NCT01381003 Phase 1, Phase 2
10 Gene Therapy for Chronic Granulomatous Disease Terminated NCT00394316 Early Phase 1 Phagocyte Oxidase Subunit Transduced CD34 Hematopoietic Stem Cells

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

Genetic Tests for Granulomatous Disease, Chronic, X-Linked

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

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

Anatomical Context for Granulomatous Disease, Chronic, X-Linked

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

41
Neutrophil, Bone, Skin, Testes, Bone Marrow, Liver, Lung

Publications for Granulomatous Disease, Chronic, X-Linked

Articles related to Granulomatous Disease, Chronic, X-Linked:

(show top 50) (show all 164)
# Title Authors Year
1
Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease. ( 29702544 )
2018
2
Non-Clinical Efficacy and Safety Studies on G1XCGD, a Lentiviral Vector for Ex Vivo Gene Therapy of X-Linked Chronic Granulomatous Disease. ( 29664709 )
2018
3
Correction to: Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK. ( 29744786 )
2018
4
X-linked chronic granulomatous disease in a female carrier with novel pathogenic mutation and skewed X-inactivation. ( 29508720 )
2018
5
X-Linked Chronic Granulomatous Disease: Initial Presentation with Intracranial Hemorrhage from Vitamin K Deficiency in Infant. ( 30034904 )
2018
6
A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease. ( 30094936 )
2018
7
A C126R de novo Mutation in CYBB Leads to X-linked Chronic Granulomatous Disease With Recurrent Pneumonia and BCGitis. ( 30255005 )
2018
8
Fulminant Sepsis Due to Granulibacter bethesdensis in a 4-Year-Old Boy with X-Linked Chronic Granulomatous Disease. ( 28650935 )
2017
9
Multiple Brain Abscesses Caused by Trichosporon inkin in a Patient with X-Linked Chronic Granulomatous Disease (CGD) Successfully Treated with Antifungal Therapy. ( 28698914 )
2017
10
Therapeutic effects of proteoliposomes on X-linked chronic granulomatous disease: proof of concept using macrophages differentiated from patient-specific induced pluripotent stem cells. ( 28356734 )
2017
11
Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK. ( 28337619 )
2017
12
Very Early-Onset Inflammatory Manifestations of X-Linked Chronic Granulomatous Disease. ( 29018441 )
2017
13
CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease. ( 28077679 )
2017
14
Phellinus species: An emerging cause of refractory fungal infections in patients with X-linked chronic granulomatous disease. ( 27781311 )
2017
15
Acanthocytes in the McLeod phenotype of X-linked chronic granulomatous disease. ( 28944547 )
2017
16
Vertebral Osteomyelitis and Acinetobacter Spp. Paravertebral Soft Tissue Infection in a 4 Year-Old Boy with X-Linked Chronic Granulomatous Disease. ( 27182896 )
2016
17
Targeted gene addition in human CD34(+) hematopoietic cells for correction of X-linked chronic granulomatous disease. ( 26950749 )
2016
18
Haploidentical hematopoietic stem cell transplantation for a case with X-linked chronic granulomatous disease. ( 27885760 )
2016
19
Posterior Segment Findings in X-Linked Chronic Granulomatous Disease. ( 26270405 )
2015
20
Functional Restoration of gp91phox-Oxidase Activity by BAC Transgenesis and Gene Targeting in X-linked Chronic Granulomatous Disease iPSCs. ( 26316390 )
2015
21
TALEN-mediated functional correction of X-linked chronic granulomatous disease in patient-derived induced pluripotent stem cells. ( 26295532 )
2015
22
Ocular Manifestations of X-linked Chronic Granulomatous Disease: About Two Atypical Case Reports. ( 24678791 )
2015
23
Curative haploidentical BMT in a murine model of X-linked chronic granulomatous disease. ( 25921405 )
2015
24
Gene Therapy for X-Linked Chronic Granulomatous Disease (Net4CGD). ( 26086757 )
2015
25
Recurrent BCG Infection in a Boy With X-Linked Chronic Granulomatous Disease. ( 26727766 )
2015
26
Successful treatment of post-transplant thrombocytopenia with romiplostim in a pediatric patient with X-linked chronic granulomatous disease. ( 25118016 )
2014
27
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease. ( 24999735 )
2014
28
Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease. ( 24991462 )
2014
29
Sporothrix schenckii Lymphadentitis in a Male with X-linked Chronic Granulomatous Disease. ( 24241583 )
2013
30
Rapid determination of chimerism status using dihydrorhodamine assay in a patient with X-linked chronic granulomatous disease following hematopoietic stem cell transplantation. ( 23826567 )
2013
31
From bench to bedside: preclinical evaluation of a self-inactivating gammaretroviral vector for the gene therapy of X-linked chronic granulomatous disease. ( 23845071 )
2013
32
Psychrobacter immobilis Septicemia in a Boy with X-linked Chronic Granulomatous Disease and Fulminant Hepatic Failure. ( 24217814 )
2013
33
X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother. ( 23859418 )
2013
34
Successful Unrelated Cord Blood Stem Cell Transplantation in an X-linked Chronic Granulomatous Disease Patient with Disseminated BCG-induced Infection. ( 23680261 )
2013
35
Variant of X-Linked Chronic Granulomatous Disease Revealed by a Severe Burkholderia cepacia Invasive Infection in an Infant. ( 25374740 )
2013
36
High-performance liquid chromatography under partially denaturing conditions (dHPLC) is a fast and cost-effective method for screening molecular defects: four novel mutations found in X-linked chronic granulomatous disease. ( 22540226 )
2012
37
Hepatic abscess as the single manifestation of X-linked chronic granulomatous disease. ( 22012688 )
2012
38
Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease. ( 23193493 )
2012
39
Rare duplication or deletion of exons 6, 7 and 8 in CYBB leading to X-linked chronic granulomatous disease in two patients from different families. ( 22382877 )
2012
40
High frequency in the delay in primary tooth loss in X-linked chronic granulomatous disease. ( 22929960 )
2012
41
Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells. ( 22305980 )
2012
42
Copy number variations due to large genomic deletion in X-linked chronic granulomatous disease. ( 22383943 )
2012
43
Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling. ( 22924737 )
2012
44
Preimplantation genetic diagnosis for HLA typing in a case of X-linked chronic granulomatous disease. ( 22404048 )
2012
45
Genetic correction of X-linked chronic granulomatous disease with novel foamy virus vectors. ( 21426924 )
2011
46
Oxidase-deficient neutrophils from X-linked chronic granulomatous disease iPS cells: functional correction by zinc finger nuclease-mediated safe harbor targeting. ( 21411759 )
2011
47
Retroviral gene therapy for X-linked chronic granulomatous disease: results from phase I/II trial. ( 21878903 )
2011
48
Two X-linked chronic granulomatous disease patients with unusual NADPH oxidase properties. ( 21604087 )
2011
49
Osteomyelitis due to trimethoprim/sulfamethoxazole-resistant Edwardsiella tarda infection in a patient with X-linked chronic granulomatous disease. ( 21246245 )
2011
50
X-linked chronic granulomatous disease with voriconazole-induced photosensitivity/ photoaging reaction. ( 20480802 )
2010

Variations for Granulomatous Disease, Chronic, X-Linked

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

75 (show top 50) (show all 63)
# 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 Granulomatous Disease, Chronic, X-Linked:

6 (show top 50) (show all 95)
# 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.1244C> A (p.Pro415His) single nucleotide variant Pathogenic rs137854585 GRCh38 Chromosome X, 37805098: 37805098
3 CYBB NM_000397.3(CYBB): c.1166G> C (p.Gly389Ala) single nucleotide variant Pathogenic rs137854586 GRCh37 Chromosome X, 37664273: 37664273
4 CYBB NM_000397.3(CYBB): c.1166G> C (p.Gly389Ala) single nucleotide variant Pathogenic rs137854586 GRCh38 Chromosome X, 37805020: 37805020
5 CYBB NM_000397.3(CYBB): c.625C> T (p.His209Tyr) single nucleotide variant Pathogenic rs137854587 GRCh37 Chromosome X, 37655345: 37655345
6 CYBB NM_000397.3(CYBB): c.625C> T (p.His209Tyr) single nucleotide variant Pathogenic rs137854587 GRCh38 Chromosome X, 37796092: 37796092
7 CYBB NM_000397.3(CYBB): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs137854588 GRCh37 Chromosome X, 37642818: 37642818
8 CYBB NM_000397.3(CYBB): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs137854588 GRCh38 Chromosome X, 37783565: 37783565
9 CYBB NM_000397.3(CYBB): c.731G> C (p.Cys244Ser) single nucleotide variant Pathogenic rs137854589 GRCh37 Chromosome X, 37658264: 37658264
10 CYBB NM_000397.3(CYBB): c.731G> C (p.Cys244Ser) single nucleotide variant Pathogenic rs137854589 GRCh38 Chromosome X, 37799011: 37799011
11 CYBB NM_000397.3(CYBB): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs137854590 GRCh37 Chromosome X, 37653046: 37653046
12 CYBB NM_000397.3(CYBB): c.466G> A (p.Ala156Thr) single nucleotide variant Pathogenic rs137854590 GRCh38 Chromosome X, 37793793: 37793793
13 CYBB NM_000397.3(CYBB): c.302A> G (p.His101Arg) single nucleotide variant Pathogenic rs137854591 GRCh37 Chromosome X, 37651277: 37651277
14 CYBB NM_000397.3(CYBB): c.302A> G (p.His101Arg) single nucleotide variant Pathogenic rs137854591 GRCh38 Chromosome X, 37792024: 37792024
15 CYBB NM_000397.3(CYBB): c.911C> G (p.Pro304Arg) single nucleotide variant Pathogenic rs137854596 GRCh37 Chromosome X, 37663143: 37663143
16 CYBB NM_000397.3(CYBB): c.911C> G (p.Pro304Arg) single nucleotide variant Pathogenic rs137854596 GRCh38 Chromosome X, 37803890: 37803890
17 CYBB CYBB, EX12DEL deletion Pathogenic
18 CYBB NM_000397.3(CYBB): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs137854592 GRCh37 Chromosome X, 37658209: 37658209
19 CYBB NM_000397.3(CYBB): c.676C> T (p.Arg226Ter) single nucleotide variant Pathogenic rs137854592 GRCh38 Chromosome X, 37798956: 37798956
20 CYBB CYBB, IVS3, G-A, +5 single nucleotide variant Pathogenic
21 CYBB NM_000397.3(CYBB): c.1499A> G (p.Asp500Gly) single nucleotide variant Pathogenic rs137854593 GRCh37 Chromosome X, 37668857: 37668857
22 CYBB NM_000397.3(CYBB): c.1499A> G (p.Asp500Gly) single nucleotide variant Pathogenic rs137854593 GRCh38 Chromosome X, 37809604: 37809604
23 CYBB NM_000397.3(CYBB): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs137854594 GRCh37 Chromosome X, 37651276: 37651276
24 CYBB NM_000397.3(CYBB): c.301C> T (p.His101Tyr) single nucleotide variant Pathogenic rs137854594 GRCh38 Chromosome X, 37792023: 37792023
25 CYBB NM_000397.3(CYBB): c.252G> A (p.Ala84=) single nucleotide variant Pathogenic rs387906485 GRCh37 Chromosome X, 37642853: 37642853
26 CYBB NM_000397.3(CYBB): c.252G> A (p.Ala84=) single nucleotide variant Pathogenic rs387906485 GRCh38 Chromosome X, 37783600: 37783600
27 CYBB CYBB, IN5, L1 INS insertion Pathogenic
28 CYBB CYBB, 252G-A single nucleotide variant Pathogenic
29 CYBB NM_000397.3(CYBB): c.907C> A (p.His303Asn) single nucleotide variant Pathogenic rs137854595 GRCh37 Chromosome X, 37663139: 37663139
30 CYBB NM_000397.3(CYBB): c.907C> A (p.His303Asn) single nucleotide variant Pathogenic rs137854595 GRCh38 Chromosome X, 37803886: 37803886
31 CYBB CYBB, IVS5, G-T, +978 single nucleotide variant Pathogenic
32 CYBB CYBB, EX4, L1 INS insertion Pathogenic
33 CYBB CYBB, IVS1, T-C, +6 single nucleotide variant Pathogenic
34 CYBB NM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter) indel Pathogenic rs387906486 GRCh37 Chromosome X, 37641385: 37641387
35 CYBB NM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter) indel Pathogenic rs387906486 GRCh38 Chromosome X, 37782132: 37782134
36 CYBB NM_000397.3(CYBB): c.1140dupG (p.Lys381Glufs) duplication Likely pathogenic rs193922445 GRCh37 Chromosome X, 37663372: 37663372
37 CYBB NM_000397.3(CYBB): c.1140dupG (p.Lys381Glufs) duplication Likely pathogenic rs193922445 GRCh38 Chromosome X, 37804119: 37804119
38 CYBB NM_000397.3(CYBB): c.1314+19C> T single nucleotide variant Benign rs34834015 GRCh37 Chromosome X, 37664440: 37664440
39 CYBB NM_000397.3(CYBB): c.1314+19C> T single nucleotide variant Benign rs34834015 GRCh38 Chromosome X, 37805187: 37805187
40 CYBB NM_000397.3(CYBB): c.15delT (p.Val6Terfs) deletion Likely pathogenic rs193922446 GRCh37 Chromosome X, 37639345: 37639345
41 CYBB NM_000397.3(CYBB): c.15delT (p.Val6Terfs) deletion Likely pathogenic rs193922446 GRCh38 Chromosome X, 37780092: 37780092
42 CYBB NM_000397.3(CYBB): c.1601T> A (p.Val534Asp) single nucleotide variant Uncertain significance rs151344478 GRCh37 Chromosome X, 37670058: 37670058
43 CYBB NM_000397.3(CYBB): c.1601T> A (p.Val534Asp) single nucleotide variant Uncertain significance rs151344478 GRCh38 Chromosome X, 37810805: 37810805
44 CYBB NM_000397.3(CYBB): c.338-13C> T single nucleotide variant Uncertain significance rs193922447 GRCh37 Chromosome X, 37652905: 37652905
45 CYBB NM_000397.3(CYBB): c.338-13C> T single nucleotide variant Uncertain significance rs193922447 GRCh38 Chromosome X, 37793652: 37793652
46 CYBB NM_000397.3(CYBB): c.389G> C (p.Arg130Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs193922448 GRCh37 Chromosome X, 37652969: 37652969
47 CYBB NM_000397.3(CYBB): c.389G> C (p.Arg130Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs193922448 GRCh38 Chromosome X, 37793716: 37793716
48 CYBB NM_000397.3(CYBB): c.46-7T> C single nucleotide variant Uncertain significance rs182039020 GRCh37 Chromosome X, 37641334: 37641334
49 CYBB NM_000397.3(CYBB): c.46-7T> C single nucleotide variant Uncertain significance rs182039020 GRCh38 Chromosome X, 37782081: 37782081
50 CYBB NM_000397.3(CYBB): c.607G> T (p.Glu203Ter) single nucleotide variant Likely pathogenic rs193922449 GRCh37 Chromosome X, 37655327: 37655327

Expression for Granulomatous Disease, Chronic, X-Linked

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

Pathways for Granulomatous Disease, Chronic, X-Linked

Pathways related to Granulomatous Disease, Chronic, X-Linked according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.82 CYBA CYBB NCF1 NCF2
2
Show member pathways
12.72 CYBA CYBB NCF1 NCF2
3
Show member pathways
12.38 CYBA CYBB NCF1 NCF2
4
Show member pathways
12.23 CYBA CYBB NCF1 NCF2
5
Show member pathways
12.2 CYBA CYBB NCF1 NCF2
6
Show member pathways
12.12 CYBA CYBB NCF1 NCF2
7
Show member pathways
12.08 CYBA CYBB NCF1 NCF2
8
Show member pathways
11.98 CYBA CYBB NCF1 NCF2
9
Show member pathways
11.95 CYBA CYBB NCF1 NCF2
10 11.86 CYBA NCF1 NCF2
11 11.85 CYBA CYBB NCF1 NCF2
12 11.79 CYBA NCF1 NCF2
13 11.65 CYBA CYBB NCF1 NCF2
14
Show member pathways
11.42 CYBA CYBB NCF1 NCF2
15 11 CYBA CYBB NCF1 NCF2
16
Show member pathways
11 CYBA CYBB NCF1 NCF2
17 10.04 CYBA CYBB NCF1 NCF2

GO Terms for Granulomatous Disease, Chronic, X-Linked

Cellular components related to Granulomatous Disease, Chronic, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite GO:0030425 9.58 CYBA CYBB NCF1
2 specific granule membrane GO:0035579 9.43 CYBA CYBB
3 neuronal cell body GO:0043025 9.43 CYBA CYBB NCF1
4 tertiary granule membrane GO:0070821 9.37 CYBA CYBB
5 phagocytic vesicle membrane GO:0030670 9.32 CYBA CYBB
6 rough endoplasmic reticulum GO:0005791 9.16 CYBB NCF1
7 phagolysosome GO:0032010 8.96 NCF1 NCF2
8 NADPH oxidase complex GO:0043020 8.92 CYBA CYBB NCF1 NCF2

Biological processes related to Granulomatous Disease, Chronic, X-Linked according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.85 CYBA CYBB DUOX1 MT-CYB NCF1 NCF2
2 innate immune response GO:0045087 9.81 CYBA CYBB NCF1 NCF2
3 response to drug GO:0042493 9.74 CYBA CYBB MT-CYB
4 electron transport chain GO:0022900 9.71 CYBA CYBB NCF1 NCF2
5 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.62 CYBA CYBB NCF1 NCF2
6 cellular calcium ion homeostasis GO:0006874 9.61 KEL XK
7 cellular response to oxidative stress GO:0034599 9.6 CYBA CYBB
8 response to nutrient GO:0007584 9.59 CYBB MT-CYB
9 cellular defense response GO:0006968 9.58 NCF1 NCF2
10 myelination GO:0042552 9.58 KEL XK
11 cellular response to cadmium ion GO:0071276 9.56 CYBB NCF1
12 reactive oxygen species metabolic process GO:0072593 9.55 CYBA DUOX1
13 skeletal muscle fiber development GO:0048741 9.54 KEL XK
14 regulation of cell size GO:0008361 9.52 KEL XK
15 cellular magnesium ion homeostasis GO:0010961 9.49 KEL XK
16 regulation of axon diameter GO:0031133 9.48 KEL XK
17 cellular response to L-glutamine GO:1904845 9.46 CYBA CYBB
18 superoxide metabolic process GO:0006801 9.46 CYBA CYBB NCF1 NCF2
19 response to aldosterone GO:1904044 9.43 CYBA CYBB
20 hydrogen peroxide biosynthetic process GO:0050665 9.43 CYBA CYBB DUOX1
21 respiratory burst GO:0045730 9.26 CYBA CYBB NCF1 NCF2
22 superoxide anion generation GO:0042554 9.02 CYBA CYBB DUOX1 NCF1 NCF2

Molecular functions related to Granulomatous Disease, Chronic, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.62 CYBA CYBB DUOX1 MT-CYB
2 heme binding GO:0020037 9.43 CYBA CYBB DUOX1
3 electron transfer activity GO:0009055 9.35 CYBA CYBB MT-CYB NCF1 NCF2
4 superoxide-generating NADPH oxidase activator activity GO:0016176 9.16 NCF1 NCF2
5 superoxide-generating NADPH oxidase activity GO:0016175 8.92 CYBA CYBB NCF1 NCF2

Sources for Granulomatous Disease, Chronic, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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