CGDX
MCID: GRN051
MIFTS: 57

Granulomatous Disease, Chronic, X-Linked (CGDX)

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 72 39
Chronic Granulomatous Disease, X-Linked 57 29 13 6
X-Linked Chronic Granulomatous Disease 12 15
Cgd 57 72
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 72
Chronic Granulomatous Disease Cytochrome-B-Negative X-Linked 72
Chronic Granulomatous Disease Cytochrome B-Positive X-Linked 72
Chronic Granulomatous Disease Cytochrome-B-Positive X-Linked 72
Granulomatous Disease, Chronic, X-Linked, Variant 6
Cgdx 57
Cdgx 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
onset usually in first decade
'variant' form of x-linked cgd retains residual cytochrome b(-245)

Inheritance:
x-linked recessive


HPO:

31
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 X-linked chronic granulomatous disease (CGDX) is a primary immunodeficiency characterized by onset of symptoms in the first months or years of life. Patients present with recurrent infections, lymphadenopathy, inflammatory bowel disease, granulomatous colitis, fever, skin infections, osteomyelitis, and/or abscesses. Infectious organisms usually include Staphylococcus aureus, Burkholderia cepacia, Serrata, Salmonella, mycobacteria, and fungi. The disorder results from impaired function of the phagocytic NADPH oxidase complex, which generates the microbiocidal respiratory burst. Laboratory studies using the DHR assay show impaired phagocytic production of reactive oxygen species in response to PMA stimulation (reviews by Dinauer et al., 2001 and Johnston, 2001; summary by Song et al., 2014). (306400) (Updated 05-Apr-2021)

MalaCards based summary : Granulomatous Disease, Chronic, X-Linked, also known as chronic granulomatous disease, x-linked, is related to granulomatous disease, chronic, autosomal recessive, 1 and granulomatous disease, chronic, autosomal recessive, 3. An important gene associated with Granulomatous Disease, Chronic, X-Linked is CYBB (Cytochrome B-245 Beta Chain), and among its related pathways/superpathways are Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins. and Signaling by Rho GTPases. The drugs Ibuprofen and Analgesics, Non-Narcotic have been mentioned in the context of this disorder. Affiliated tissues include neutrophil, liver 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 : 72 Granulomatous disease, chronic, X-linked: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.

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 top 50) (show all 110)
# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, 1 31.4 NCF2 NCF1 CYBB CYBA
2 granulomatous disease, chronic, autosomal recessive, 3 31.2 NCF4 NCF1
3 granulomatous disease, chronic, autosomal recessive, 4 30.9 NCF4 NCF2 NCF1 DUOX2 DUOX1 CYBB
4 suppurative lymphadenitis 30.3 NCF2 NCF1 CYBB
5 chronic granulomatous disease 29.0 XK PRDM16 PPP1R12C NCF4 NCF2 NCF1
6 peroxisome biogenesis disorder 8a 11.2
7 46,xy sex reversal 11.1
8 congenital disorder of glycosylation, type iil 11.1
9 granulomatous disease, chronic, autosomal recessive, 2 10.9
10 granulomatous disease, chronic, autosomal recessive, 5 10.9
11 mcleod syndrome 10.9
12 peroxisome biogenesis disorder 8b 10.9
13 lymphadenitis 10.5
14 discoid lupus erythematosus 10.5
15 pneumonia 10.4
16 pleural empyema 10.3
17 severe combined immunodeficiency 10.3
18 stomatitis 10.3
19 splenic abscess 10.2 NCF2 CYBB
20 deficiency anemia 10.2
21 cutaneous lupus erythematosus 10.2
22 uveitis 10.2
23 cystitis 10.2
24 orchitis 10.2
25 iridocyclitis 10.2
26 cholangitis 10.2
27 aphthous stomatitis 10.2
28 eosinophilic cystitis 10.2
29 sutton disease 2 10.2
30 aspergillosis 10.2
31 bacillary angiomatosis 10.2 MT-CYB CD34
32 retinitis pigmentosa 47 10.1 NCF2 NCF1 MT-CYB
33 invasive aspergillosis 10.1
34 fetal erythroblastosis 10.1 XK KEL
35 bartonellosis 10.1 MT-CYB CD34
36 triiodothyronine receptor auxiliary protein 10.1
37 down syndrome 10.1
38 osteopetrosis, autosomal recessive 1 10.1
39 langerhans cell histiocytosis 10.1
40 gastrointestinal ulceration, recurrent, with dysfunctional platelets 10.1
41 hemophagocytic lymphohistiocytosis 10.1
42 acute diarrhea 10.1
43 exanthem 10.1
44 lymphoblastic lymphoma 10.1
45 vitamin k deficiency bleeding 10.1
46 bronchopneumonia 10.1
47 oral candidiasis 10.1
48 sporotrichosis 10.1
49 thrombocytopenia due to platelet alloimmunization 10.1
50 thrombocytopenia 10.1

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

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

31 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 immunodeficiency 31 HP:0002721
4 cellulitis 31 HP:0100658
5 osteomyelitis 31 HP:0002754
6 recurrent pneumonia 31 HP:0006532
7 liver abscess 31 HP:0100523
8 recurrent bacterial skin infections 31 HP:0005406
9 lymphadenopathy 31 HP:0002716
10 granulomatosis 31 HP:0002955
11 recurrent staphylococcus aureus infections 31 HP:0002726
12 eczematoid dermatitis 31 HP:0000976
13 recurrent aspergillus infections 31 HP:0002724
14 rectal abscess 31 HP:0005224
15 lymphadenitis 31 HP:0002840
16 decreased activity of nadph oxidase 31 HP:0003206
17 discoid lupus rash 31 HP:0007417
18 absence of bactericidal oxidative respiratory burst in phagocytes 31 HP:0002723
19 recurrent e. coli infections 31 HP:0002740
20 recurrent serratia marcescens infections 31 HP:0002741
21 recurrent klebsiella infections 31 HP:0002742
22 recurrent burkholderia cepacia infections 31 HP:0002842
23 impaired oxidative burst 31 HP:0003203
24 deficiency or absence of cytochrome b(-245) 31 HP:0003514

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
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

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

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

Respiratory Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Clinical features from OMIM®:

306400 (Updated 05-Apr-2021)

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 ADA CCND2 CD34 CYBA CYBB DUOX2
2 cardiovascular system MP:0005385 10.07 ADA CCND2 CYBA CYBB DUOX2 KEL
3 homeostasis/metabolism MP:0005376 10.07 ADA CCND2 CD34 CYBA CYBB DUOX2
4 immune system MP:0005387 9.93 ADA CCND2 CD34 CYBA CYBB DUOX2
5 liver/biliary system MP:0005370 9.5 ADA CCND2 DUOX2 LMO2 MECOM NCF1
6 nervous system MP:0003631 9.32 CCND2 CYBA CYBB DUOX2 KEL LMO2

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 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ibuprofen Approved Phase 2 15687-27-1 3672
2 Analgesics, Non-Narcotic Phase 2
3 Analgesics Phase 2
4 Antirheumatic Agents Phase 2
5 Cyclooxygenase Inhibitors Phase 2
6 Anti-Retroviral Agents Phase 2
7 Plerixafor octahydrochloride Phase 2
8 Antiviral Agents Phase 2
9 Anti-HIV Agents Phase 2
10 Anti-Inflammatory Agents Phase 2
11 Anti-Inflammatory Agents, Non-Steroidal Phase 2
12 Anti-Infective Agents Phase 2
13
Busulfan Approved, Investigational Early Phase 1 55-98-1 2478

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Multicentric, Exploratory, Non-randomised, Non-controlled, Prospective, Open-label Phase II Study Evaluating Safety and Efficacy of IBU, G-CSF and Plerixafor as Stem Cell Mobilization Regimen in Patients Affected by X-CGD Unknown status NCT03055247 Phase 2 Ibuprofen;Myelostim;Mozobil
2 A Phase I/II Gene Therapy Trial for X-CGD With a SIN Gammaretroviral Vector Unknown status NCT01906541 Phase 1, Phase 2
3 Phase I/II Gene Therapy Study for X-Linked Chronic Granulomatous Disease Unknown status NCT00564759 Phase 1, Phase 2 retroviral SF71-gp91phox transduced CD34+ cells
4 Phase I/II Gene Therapy Study for X-linked Chronic Granulomatous Disease in Children Completed NCT00927134 Phase 1, Phase 2
5 A Phase I/II, Non Randomized, Multicenter, Open-Label Study of G1XCGD (Lentiviral Vector Transduced CD34+ Cells) in Patients With X-Linked Chronic Granulomatous Disease Active, not recruiting NCT02234934 Phase 1, Phase 2
6 A Phase I/II, Non Randomized, Monocentric Open-label Study of Autologous CD34+ Cells Transduced With the G1XCGD Lentiviral Vector in Patients With X-Linked Chronic Granulomatous Disease Active, not recruiting NCT02757911 Phase 1, Phase 2
7 A Phase I/II, Non Randomized, Multicenter, Open-label Study of Autologous CD34+ Cells Transduced With the G1XCGD Lentiviral Vector in Patients With X-linked Chronic Granulomatous Disease Active, not recruiting NCT01855685 Phase 1, Phase 2
8 Phase I/II Gene Therapy Protocol for X-Linked Chronic Granulomatous Disease Withdrawn NCT01381003 Phase 1, Phase 2
9 Autologous Transplantation of Genetically Modified Cells for the Treatment of X-Linked 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:

40
Neutrophil, Liver, Skin, Monocytes, Bone Marrow, Bone, Lung

Publications for Granulomatous Disease, Chronic, X-Linked

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

(show top 50) (show all 160)
# Title Authors PMID Year
1
Improved superoxide-generating ability by interferon gamma due to splicing pattern change of transcripts in neutrophils from patients with a splice site mutation in CYBB gene. 57 6
11435314 2001
2
Interferon-gamma improves splicing efficiency of CYBB gene transcripts in an interferon-responsive variant of chronic granulomatous disease due to a splice site consensus region mutation. 6 57
10828042 2000
3
Statistical and mutational analysis of chronic granulomatous disease in Japan with special reference to gp91-phox and p22-phox deficiency. 57 6
10914676 2000
4
X-Linked chronic granulomatous disease: mutations in the CYBB gene encoding the gp91-phox component of respiratory-burst oxidase. 57 6
9585602 1998
5
The genetic basis of chronic granulomatous disease. 6 57
8070813 1994
6
Prenatal diagnosis in a family with X-linked chronic granulomatous disease with the use of the polymerase chain reaction. 6 57
1438069 1992
7
Studying X inactivation. 57 6
1347621 1992
8
Point mutations in the beta-subunit of cytochrome b558 leading to X-linked chronic granulomatous disease. 57 6
1710153 1991
9
A missense mutation in the neutrophil cytochrome b heavy chain in cytochrome-positive X-linked chronic granulomatous disease. 6 57
2556453 1989
10
Molecular genetics of chronic granulomatous disease. 6 57
2523713 1989
11
Partial correction of the phagocyte defect in patients with X-linked chronic granulomatous disease by subcutaneous interferon gamma. 6 57
2838754 1988
12
The glycoprotein encoded by the X-linked chronic granulomatous disease locus is a component of the neutrophil cytochrome b complex. 57 6
3600768 1987
13
Chronic granulamatous disease: Two decades of experience from a paediatric immunology unit in a country with high rate of consangineous marriages. 6
30506560 2019
14
A novel mutation in CYBB gene in a patient with chronic colitis and recurrent pneumonia due to X-linked chronic granulomatous disease. 57
30094936 2018
15
Approach to Molecular Diagnosis of Chronic Granulomatous Disease (CGD): an Experience from a Large Cohort of 90 Indian Patients. 6
30470980 2018
16
Exon skipping in CYBB mRNA and skewed inactivation of X chromosome cause late-onset chronic granulomatous disease. 6
30633606 2018
17
Characterization of 4 New Mutations in the CYBB Gene in 10 Iranian Families With X-linked Chronic Granulomatous Disease. 6
29702544 2018
18
A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004-2017). 6
29560547 2018
19
Preliminary study on chronic granulomatous disease in Sri Lanka. 6
30237823 2018
20
Necrotizing Liver Granuloma/Abscess and Constrictive Aspergillosis Pericarditis with Central Nervous System Involvement: Different Remarkable Phenotypes in Different Chronic Granulomatous Disease Genotypes. 6
28168067 2017
21
Chronic granulomatous disease: Clinical, functional, molecular, and genetic studies. The Israeli experience with 84 patients. 6
27701760 2017
22
Clinical Features and Genetic Analysis of 48 Patients with Chronic Granulomatous Disease in a Single Center Study from Shanghai, China (2005-2015): New Studies and a Literature Review. 6
28251166 2017
23
Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry. 6
26185101 2015
24
Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in a Patient with Chronic Granulomatous Disease and Active Infection: A First Report. 6
26453586 2015
25
Monocyte/macrophage-specific NADPH oxidase contributes to antimicrobial host defense in X-CGD. 6
25666294 2015
26
Identification of NOX2 regions for normal biosynthesis of cytochrome b558 in phagocytes highlighting essential residues for p22phox binding. 6
25252997 2014
27
Bacillus calmette-guerin infection in NADPH oxidase deficiency: defective mycobacterial sequestration and granuloma formation. 57
25188296 2014
28
Clinical and molecular features of 38 children with chronic granulomatous disease in mainland china. 6
24943880 2014
29
Identification of a Novel Mutation in the CYBB Gene, p.Asp378Gly, in a Patient With X-linked Chronic Granulomatous Disease. 57
24991462 2014
30
Genetic analysis of CYBB gene in 26 korean families with X-linked chronic granulomatous disease. 6
24999735 2014
31
Clinical, functional, and genetic characterization of chronic granulomatous disease in 89 Turkish patients. 6
23910690 2013
32
Persistence of the bacterial pathogen Granulibacter bethesdensis in chronic granulomatous disease monocytes and macrophages lacking a functional NADPH oxidase. 6
23956436 2013
33
X-linked chronic granulomatous disease in a male child with an X-CGD carrier, Klinefelter brother. 6
23859418 2013
34
Prenatal diagnosis of X-linked chronic granulomatous disease by percutaneous umbilical blood sampling. 6
22924737 2012
35
High frequency in the delay in primary tooth loss in X-linked chronic granulomatous disease. 6
22929960 2012
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. 6
22540226 2012
37
Chronic Granulomatous Disease 6
22876374 2012
38
Residual NADPH oxidase activity and isolated lung involvement in x-linked chronic granulomatous disease. 6
23193493 2012
39
Residual NADPH oxidase and survival in chronic granulomatous disease. 6
21190454 2010
40
Hematologically important mutations: X-linked chronic granulomatous disease (third update). 6
20729109 2010
41
Regulation of NADPH oxidase activity in phagocytes: relationship between FAD/NADPH binding and oxidase complex assembly. 6
20724480 2010
42
Molecular characterization of a large cohort of patients with Chronic Granulomatous Disease and identification of novel CYBB mutations: an Italian multicenter study. 6
19410294 2009
43
Diffuse interstitial pneumonia and pulmonary hypertension: a novel manifestation of chronic granulomatous disease. 6
19483051 2009
44
Chronic granulomatous disease in Israel: clinical, functional and molecular studies of 38 patients. 6
18708296 2008
45
Molecular epidemiology of chronic granulomatous disease in a series of 80 kindreds: identification of 31 novel mutations. 6
18546332 2008
46
Genetics and immunopathology of chronic granulomatous disease. 6
18509647 2008
47
Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. 57
16582916 2006
48
Unusual late presentation of X-linked chronic granulomatous disease in an adult female with a somatic mosaic for a novel mutation in CYBB. 6
15308575 2005
49
Functional analysis of two-amino acid substitutions in gp91 phox in a patient with X-linked flavocytochrome b558-positive chronic granulomatous disease by means of transgenic PLB-985 cells. 6
15338276 2004
50
Severe phenotype of chronic granulomatous disease presenting in a female with a de novo mutation in gp91-phox and a non familial, extremely skewed X chromosome inactivation. 6
14697745 2003

Variations for Granulomatous Disease, Chronic, X-Linked

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

6 (show top 50) (show all 137)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYBB NM_000397.3(CYBB):c.1166G>C (p.Gly389Ala) SNV Pathogenic 10921 rs137854586 GRCh37: X:37664273-37664273
GRCh38: X:37805020-37805020
2 CYBB NM_000397.3(CYBB):c.731G>C (p.Cys244Ser) SNV Pathogenic 10924 rs137854589 GRCh37: X:37658264-37658264
GRCh38: X:37799011-37799011
3 CYBB NM_000397.3(CYBB):c.466G>A (p.Ala156Thr) SNV Pathogenic 10925 rs137854590 GRCh37: X:37653046-37653046
GRCh38: X:37793793-37793793
4 CYBB NM_000397.3(CYBB):c.301C>T (p.His101Tyr) SNV Pathogenic 10932 rs137854594 GRCh37: X:37651276-37651276
GRCh38: X:37792023-37792023
5 CYBB NM_000397.3(CYBB):c.907C>A (p.His303Asn) SNV Pathogenic 10936 rs137854595 GRCh37: X:37663139-37663139
GRCh38: X:37803886-37803886
6 CYBB NM_000397.3(CYBB):c.625C>T (p.His209Tyr) SNV Pathogenic 10922 rs137854587 GRCh37: X:37655345-37655345
GRCh38: X:37796092-37796092
7 CYBB NM_000397.3(CYBB):c.911C>G (p.Pro304Arg) SNV Pathogenic 10927 rs137854596 GRCh37: X:37663143-37663143
GRCh38: X:37803890-37803890
8 CYBB CYBB, EX12DEL Deletion Pathogenic 10928 GRCh37:
GRCh38:
9 CYBB NM_000397.4(CYBB):c.252+5G>A SNV Pathogenic 10930 rs1602175016 GRCh37: X:37642858-37642858
GRCh38: X:37783605-37783605
10 CYBB NM_000397.3(CYBB):c.1499A>G (p.Asp500Gly) SNV Pathogenic 10931 rs137854593 GRCh37: X:37668857-37668857
GRCh38: X:37809604-37809604
11 CYBB CYBB, IN5, L1 INS Insertion Pathogenic 10934 GRCh37:
GRCh38:
12 CYBB CYBB, IVS5, G-T, +978 SNV Pathogenic 10937 GRCh37:
GRCh38:
13 CYBB CYBB, EX4, L1 INS Insertion Pathogenic 10938 GRCh37:
GRCh38:
14 CYBB NM_000397.3(CYBB):c.45+6T>C SNV Pathogenic 10939 rs1569478551 GRCh37: X:37639381-37639381
GRCh38: X:37780128-37780128
15 CYBB NM_000397.3(CYBB):c.1702G>A (p.Glu568Lys) SNV Pathogenic 533556 rs1556473119 GRCh37: X:37670159-37670159
GRCh38: X:37810906-37810906
16 CYBB NM_000397.3(CYBB):c.781C>T (p.Gln261Ter) SNV Pathogenic 533558 rs1556469197 GRCh37: X:37658314-37658314
GRCh38: X:37799061-37799061
17 CYBB NM_000397.3(CYBB):c.1011G>A (p.Trp337Ter) SNV Pathogenic 573596 rs1569479943 GRCh37: X:37663243-37663243
GRCh38: X:37803990-37803990
18 CYBB NM_000397.3(CYBB):c.1466_1467del (p.Asn489fs) Deletion Pathogenic 574178 rs1569480333 GRCh37: X:37668824-37668825
GRCh38: X:37809571-37809572
19 CYBB NM_000397.4(CYBB):c.1313dup (p.Ile439fs) Duplication Pathogenic 646067 rs1602183698 GRCh37: X:37664415-37664416
GRCh38: X:37805162-37805163
20 CYBB NM_000397.3(CYBB):c.1320C>G (p.Tyr440Ter) SNV Pathogenic 659169 rs200129367 GRCh37: X:37665645-37665645
GRCh38: X:37806392-37806392
21 CYBB NC_000023.11:g.(?_37780009)_(37783620_?)del Deletion Pathogenic 660681 GRCh37: X:37639262-37642873
GRCh38: X:37780009-37783620
22 CYBB NM_000397.4(CYBB):c.1326C>A (p.Tyr442Ter) SNV Pathogenic 803963 rs1602184316 GRCh37: X:37665651-37665651
GRCh38: X:37806398-37806398
23 CYBB NC_000023.11:g.(?_37780009)_(37782203_?)del Deletion Pathogenic 830772 GRCh37: X:37639262-37641456
GRCh38:
24 CYBB NC_000023.11:g.(?_37780009)_(37810937_?)del Deletion Pathogenic 832747 GRCh37: X:37639262-37670190
GRCh38:
25 CYBB NM_000397.4(CYBB):c.902_905TCAC[1] (p.His303fs) Microsatellite Pathogenic 842892 GRCh37: X:37663134-37663137
GRCh38: X:37803881-37803884
26 CYBB NM_000397.4(CYBB):c.1245del (p.Phe416fs) Deletion Pathogenic 843650 GRCh37: X:37664350-37664350
GRCh38: X:37805097-37805097
27 CYBB NM_000397.4(CYBB):c.446del (p.Asn149fs) Deletion Pathogenic 847891 GRCh37: X:37653023-37653023
GRCh38: X:37793770-37793770
28 CYBB NM_000397.4(CYBB):c.643TTC[1] (p.Phe216del) Microsatellite Pathogenic 957655 GRCh37: X:37655361-37655363
GRCh38: X:37796108-37796110
29 CYBB NM_000397.4(CYBB):c.1010G>A (p.Trp337Ter) SNV Pathogenic 962575 GRCh37: X:37663242-37663242
GRCh38: X:37803989-37803989
30 CYBB NM_000397.4(CYBB):c.693_694del (p.Gln231fs) Deletion Pathogenic 942495 GRCh37: X:37658225-37658226
GRCh38: X:37798972-37798973
31 CYBB NM_000397.4(CYBB):c.987C>A (p.Cys329Ter) SNV Pathogenic 944826 GRCh37: X:37663219-37663219
GRCh38: X:37803966-37803966
32 CYBB NM_000397.4(CYBB):c.840T>A (p.Tyr280Ter) SNV Pathogenic 947989 GRCh37: X:37660544-37660544
GRCh38: X:37801291-37801291
33 CYBB NM_000397.4(CYBB):c.141+1del Deletion Pathogenic 970762 GRCh37: X:37641434-37641434
GRCh38: X:37782181-37782181
34 CYBB NM_000397.3(CYBB):c.1016C>A (p.Pro339His) SNV Pathogenic 68368 rs151344470 GRCh37: X:37663248-37663248
GRCh38: X:37803995-37803995
35 CYBB NM_000397.3(CYBB):c.925G>A (p.Glu309Lys) SNV Pathogenic 68412 rs151344466 GRCh37: X:37663157-37663157
GRCh38: X:37803904-37803904
36 CYBB NM_000397.3(CYBB):c.302A>G (p.His101Arg) SNV Pathogenic 10926 rs137854591 GRCh37: X:37651277-37651277
GRCh38: X:37792024-37792024
37 CYBB NM_000397.3(CYBB):c.80_83del (p.Val27fs) Deletion Pathogenic 495863 rs1556464554 GRCh37: X:37641373-37641376
GRCh38: X:37782120-37782123
38 CYBB NM_000397.4(CYBB):c.388C>T (p.Arg130Ter) SNV Pathogenic 862779 GRCh37: X:37652968-37652968
GRCh38: X:37793715-37793715
39 CYBB NM_000397.3(CYBB):c.302A>G (p.His101Arg) SNV Pathogenic 10926 rs137854591 GRCh37: X:37651277-37651277
GRCh38: X:37792024-37792024
40 CYBB NM_000397.4(CYBB):c.1415del (p.Gly472fs) Deletion Pathogenic 928699 GRCh37: X:37665739-37665739
GRCh38: X:37806486-37806486
41 CYBB NM_000397.3(CYBB):c.217C>T (p.Arg73Ter) SNV Pathogenic 10923 rs137854588 GRCh37: X:37642818-37642818
GRCh38: X:37783565-37783565
42 CYBB NM_000397.3(CYBB):c.252G>A (p.Ala84=) SNV Pathogenic 10933 rs387906485 GRCh37: X:37642853-37642853
GRCh38: X:37783600-37783600
43 CYBB NM_000397.3(CYBB):c.1609T>C (p.Cys537Arg) SNV Pathogenic 68386 rs151344454 GRCh37: X:37670066-37670066
GRCh38: X:37810813-37810813
44 CYBB NM_000397.3(CYBB):c.742dup (p.Ile248fs) Duplication Pathogenic 279796 rs886041194 GRCh37: X:37658269-37658270
GRCh38: X:37799016-37799017
45 CYBB NM_000397.3(CYBB):c.868C>T (p.Arg290Ter) SNV Pathogenic 265091 rs886039337 GRCh37: X:37660572-37660572
GRCh38: X:37801319-37801319
46 CYBB NM_000397.4(CYBB):c.674+4_674+7del Microsatellite Pathogenic 372353 rs1057517730 GRCh37: X:37655392-37655395
GRCh38: X:37796139-37796142
47 CYBB NM_000397.3(CYBB):c.483+1G>T SNV Pathogenic 430197 rs1131691828 GRCh37: X:37653064-37653064
GRCh38: X:37793811-37793811
48 overlap with 7 genes NC_000023.11:g.(?_37780009)_(38421102_?)del Deletion Pathogenic 833460 GRCh37: X:37639262-38280355
GRCh38:
49 CYBB NM_000397.3(CYBB):c.676C>T (p.Arg226Ter) SNV Pathogenic 10929 rs137854592 GRCh37: X:37658209-37658209
GRCh38: X:37798956-37798956
50 CYBB NM_000397.3(CYBB):c.90_92delinsGGT (p.Tyr30_Arg31delinsTer) Indel Pathogenic 10940 rs387906486 GRCh37: X:37641385-37641387
GRCh38: X:37782132-37782134

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

72 (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

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
13.2 PRDM16 NCF4 NCF2 NCF1 MT-CYB CYBB
2
Show member pathways
12.81 NCF4 NCF2 NCF1 CYBB CYBA
3
Show member pathways
12.56 NCF4 NCF2 NCF1 MT-CYB CYBB CYBA
4
Show member pathways
12.48 NCF4 NCF2 NCF1 CYBB CYBA
5 12.35 NCF4 NCF1 MECOM CD34
6
Show member pathways
12.28 NCF4 NCF2 NCF1 CYBB CYBA
7
Show member pathways
12.25 NCF4 NCF2 NCF1 CYBB CYBA
8
Show member pathways
12.15 NCF2 NCF1 CYBB CYBA
9
Show member pathways
12 NCF4 NCF2 NCF1 CYBB CYBA
10 11.89 NCF2 NCF1 CYBB CYBA
11 11.88 NCF2 NCF1 CYBA
12 11.87 NCF4 NCF2 NCF1 CYBA
13 11.84 NCF4 NCF2 NCF1 CYBB CYBA
14
Show member pathways
11.52 NCF4 NCF2 NCF1 CYBB CYBA
15
Show member pathways
11.09 NCF4 NCF2 NCF1 CYBB CYBA
16 10.95 NCF4 CYBA
17 10.14 NCF4 NCF2 NCF1 CYBB CYBA

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 membrane GO:0016020 10.17 XK NCF4 NCF2 NCF1 MT-CYB KEL
2 neuronal cell body GO:0043025 9.67 NCF1 CYBB CYBA ADA
3 apical plasma membrane GO:0016324 9.56 DUOX2 DUOX1 CYBA CD34
4 NADPH oxidase complex GO:0043020 9.17 NCF4 NCF2 NCF1 DUOX2 DUOX1 CYBB
5 perinuclear endoplasmic reticulum GO:0097038 9.16 CYBB CYBA
6 phagolysosome GO:0032010 9.13 NCF4 NCF2 NCF1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 10.03 NCF4 NCF2 NCF1 MT-CYB DUOX2 DUOX1
2 response to drug GO:0042493 9.87 MT-CYB CYBB CYBA ADA
3 cellular response to oxidative stress GO:0034599 9.8 NCF4 NCF2 NCF1 CYBB CYBA
4 defense response GO:0006952 9.78 DUOX2 DUOX1 CYBB
5 electron transport chain GO:0022900 9.78 NCF2 NCF1 CYBB CYBA
6 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.77 NCF4 NCF2 NCF1 CYBB CYBA
7 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.72 NCF4 NCF2 NCF1 CYBB CYBA
8 cell redox homeostasis GO:0045454 9.65 NCF4 NCF2 NCF1 CYBB CYBA
9 hydrogen peroxide biosynthetic process GO:0050665 9.63 DUOX2 DUOX1 CYBA
10 hydrogen peroxide catabolic process GO:0042744 9.61 DUOX2 DUOX1
11 positive regulation of wound healing GO:0090303 9.6 DUOX2 DUOX1
12 positive regulation of cell motility GO:2000147 9.59 DUOX2 DUOX1
13 thyroid hormone generation GO:0006590 9.58 DUOX2 DUOX1
14 hematopoietic stem cell proliferation GO:0071425 9.58 MECOM CD34
15 hormone biosynthetic process GO:0042446 9.56 DUOX2 DUOX1
16 histone H3-K9 methylation GO:0051567 9.55 PRDM16 MECOM
17 superoxide metabolic process GO:0006801 9.55 NCF4 NCF2 NCF1 CYBB CYBA
18 heterochromatin organization GO:0070828 9.54 PRDM16 MECOM
19 cellular response to L-glutamine GO:1904845 9.52 CYBB CYBA
20 response to aldosterone GO:1904044 9.51 CYBB CYBA
21 cuticle development GO:0042335 9.49 DUOX2 DUOX1
22 respiratory burst GO:0045730 9.35 NCF4 NCF2 NCF1 CYBB CYBA
23 superoxide anion generation GO:0042554 9.1 NCF2 NCF1 DUOX2 DUOX1 CYBB CYBA

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 10.39 XK PRDM16 PPP1R12C NCF4 NCF2 NCF1
2 metal ion binding GO:0046872 10.13 PRDM16 MT-CYB MECOM LMO2 KEL DUOX2
3 oxidoreductase activity GO:0016491 9.8 MT-CYB DUOX2 DUOX1 CYBB CYBA
4 heme binding GO:0020037 9.56 DUOX2 DUOX1 CYBB CYBA
5 histone methyltransferase activity (H3-K9 specific) GO:0046974 9.37 PRDM16 MECOM
6 electron transfer activity GO:0009055 9.35 NCF2 NCF1 MT-CYB CYBB CYBA
7 superoxide-generating NADPH oxidase activator activity GO:0016176 9.33 NCF4 NCF2 NCF1
8 NAD(P)H oxidase activity GO:0016174 9.32 DUOX2 DUOX1
9 superoxide-generating NADPH oxidase activity GO:0016175 9.17 NCF4 NCF2 NCF1 DUOX2 DUOX1 CYBB

Sources for Granulomatous Disease, Chronic, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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