Granulomatous Disease, Chronic, Autosomal Recessive, 4 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

CGD4 MCID: GRN061 MIFTS: 48	Granulomatous Disease, Chronic, Autosomal Recessive, 4 (CGD4) Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Expand all tables

Sources

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, 4

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, 4 ⁵⁷

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative ⁵⁷ ²⁹ ⁶ ³⁹

Cyba Deficiency ⁵⁷ ¹² ⁷³

Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative ¹² ¹⁵

Cgd Due to Deficiency of the Alpha Subunit of Cytochrome B ⁵⁷ ¹²

Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive ⁷³

Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative ⁷³

Chronic Granulomatous Disease Due to Deficiency of Cyba ¹²

Cgd Due to Deficiency of Alpha Subunit of Cytochrome B ⁷³

Chronic Granulomatous Disease 4, Autosomal Recessive ⁵⁷

Autosomal Recessive Chronic Granulomatous Disease 4 ¹²

Cgd, Autosomal Recessive Cytochrome B-Negative ⁵⁷

Autosomal Recessive Cytochrome B-Negative Cgd ¹²

Arcgd ⁷³

Cgd4 ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Mar-2021)

Inheritance:
autosomal recessive

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

HPO:

³¹

granulomatous disease, chronic, autosomal recessive, 4:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Bone diseases Immune diseases Skin diseases Respiratory diseases Eye diseases Gastrointestinal diseases Blood diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0070193

OMIM® ⁵⁷ 233690

OMIM Phenotypic Series ⁵⁷ PS306400

MeSH ⁴⁴ D006105

MedGen ⁴¹ C1856255

Sources

Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, 4

UniProtKB/Swiss-Prot : ⁷³ Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive: 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.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 4, also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-negative, is related to rhinosporidiosis and acute dacryocystitis. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 4 is CYBA (Cytochrome B-245 Alpha Chain), and among its related pathways/superpathways are Integrin Pathway and PAK Pathway. Affiliated tissues include liver and neutrophil, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : ¹² A chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the CYBA gene on chromosome 16q24.2.

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 NADPH oxidase enzyme complex which generates the microbicidal 'respiratory burst.' (233690) (Updated 05-Mar-2021)

Sources

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Diseases in the Chronic Granulomatous Disease family:

Granulomatous Disease, Chronic, Autosomal Recessive, 4	Granulomatous Disease, Chronic, Autosomal Recessive, 1
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Granulomatous Disease, Chronic, Autosomal Recessive, 3
Granulomatous Disease, Chronic, Autosomal Recessive, 5

Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 17)

#	Related Disease	Score	Top Affiliating Genes
1	rhinosporidiosis	10.1	DUOX2 DUOX1
2	acute dacryocystitis	10.1	DUOX2 DUOX1
3	hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate	10.1	DUOXA2 DUOX2
4	parasitic ichthyosporea infectious disease	10.1	DUOX2 DUOX1
5	cardiomyopathy, familial hypertrophic, 2	9.8	DUOXA2 DUOX2 DUOX1 CYBB
6	renal hypertension	9.8	NOX4 CYBB
7	congenital hypothyroidism	9.8	DUOXA2 DUOX2 DUOX1
8	ileocolitis	9.6	NOX1 GPX2 GPX1 DUOX2
9	lung abscess	9.6	NCF2 NCF1 CYBA
10	retinitis pigmentosa 47	9.6	NOX1 NCF2 NCF1
11	suppurative lymphadenitis	9.6	NCF2 NCF1 CYBB
12	granulomatous disease, chronic, autosomal recessive, 1	9.5	NCF2 NCF1 CYBB CYBA
13	ectodermal dysplasia	9.4	NCF2 NCF1 CYBB CYBA
14	granulomatous disease, chronic, x-linked	8.9	NOX1 NCF4 NCF2 NCF1 DUOX2 DUOX1
15	chronic granulomatous disease	8.9	NOX1 NCF4 NCF2 NCF1 DUOX2 DUOX1
16	hypertension, essential	8.8	NOX4 NOX1 NCF2 NCF1 DUOX2 DUOX1
17	phagocyte bactericidal dysfunction	8.7	NOX4 NOX1 NCF4 NCF2 NCF1 DUOX2

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Sources

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

³¹ (show all 24)

#	Description	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-Mar-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)
deficiency or absence of p91-phox protein
deficiency or absence of p22-phox protein
negative nitroblue tetrazolium (nbt) reduction test

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®:

233690 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	9.92	CXCL2 CYBA CYBB DUOX2 DUOXA2 NCF1
2	hematopoietic system	MP:0005397	9.81	CXCL2 CYBA CYBB DUOX2 DUOXA2 GPX1
3	digestive/alimentary	MP:0005381	9.8	ALPI CYBA CYBB GPX1 GPX2 NCF1
4	homeostasis/metabolism	MP:0005376	9.73	ALPI CYBA CYBB DUOX2 DUOXA2 GPX1
5	immune system	MP:0005387	9.4	CXCL2 CYBA CYBB DUOX2 DUOXA2 GPX1

Sources

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Sources

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

#	Genetic test	Affiliating Genes
1	Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative ²⁹	CYBA

Sources

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, 4

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

⁴⁰

Liver, Neutrophil

Sources

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

(show all 14)

#	Title	Authors	PMID	Year
1	Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. ⁶ ⁵⁷	Teimourian S...Parvaneh N	18422995	2008
2	A novel and unusual case of chronic granulomatous disease in a child with a homozygous 36-bp deletion in the CYBA gene (A22(0)) leading to the activation of a cryptic splice site in intron 4. ⁵⁷ ⁶	Stasia MJ...Morel F	12073015	2002
3	Genetic studies of three Japanese patients with p22-phox-deficient chronic granulomatous disease: detection of a possible common mutant CYBA allele in Japan and a genotype-phenotype correlation in these patients. ⁵⁷ ⁶	Yamada M...Sakiyama Y	10759707	2000
4	Cytochrome b558-negative, autosomal recessive chronic granulomatous disease: two new mutations in the cytochrome b558 light chain of the NADPH oxidase (p22-phox). ⁵⁷ ⁶	de Boer M...Roos D	1415254	1992
5	Human neutrophil cytochrome b light chain (p22-phox). Gene structure, chromosomal location, and mutations in cytochrome-negative autosomal recessive chronic granulomatous disease. ⁶ ⁵⁷	Dinauer MC...Orkin SH	2243141	1990
6	Quantitative nitroblue tetrazolium test in chronic granulomatous disease. ⁶ ⁵⁷	Baehner RL...Nathan DG	4384563	1968
7	Mutation of the Cyba gene encoding p22phox causes vestibular and immune defects in mice. ⁵⁷	Nakano Y...Banfi B	18292807	2008
8	Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. ⁵⁷	Liese J...Belohradsky BH	11060536	2000
9	Point mutation in the cytoplasmic domain of the neutrophil p22-phox cytochrome b subunit is associated with a nonfunctional NADPH oxidase and chronic granulomatous disease. ⁶	Dinauer MC...Curnutte JT	1763037	1991
10	Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. ⁵⁷	Clark RA...Curnutte JT	2770793	1989
11	Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease. ⁵⁷	Parkos CA...Curnutte JT	2713485	1989
12	Activation of neutrophil NADPH oxidase in a cell-free system. Partial purification of components and characterization of the activation process. ⁶	Curnutte JT...Scott PJ	3571224	1987
13	Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization. ⁵⁷	Weening RS...Roos D	3980731	1985
14	Defensive Mutualism Rescues NADPH Oxidase Inactivation in Gut Infection. ⁶¹	Pircalabioru G...Knaus UG	27173933	2016

Sources

Genes for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Genes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 (1 elite genes):

(show all 14)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	CYBA	Cytochrome B-245 Alpha Chain	Protein Coding	1331.1	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Likely pathogenic ⁶ DISEASES inferred ¹⁵	2243141 4384563
2	NOX1	NADPH Oxidase 1	Protein Coding	6.29	DISEASES inferred ¹⁵
3	DUOX2	Dual Oxidase 2	Protein Coding	6.19	DISEASES inferred ¹⁵
4	DUOX1	Dual Oxidase 1	Protein Coding	6.1	DISEASES inferred ¹⁵
5	CYBB	Cytochrome B-245 Beta Chain	Protein Coding	5.41	DISEASES inferred ¹⁵
6	NCF4	Neutrophil Cytosolic Factor 4	Protein Coding	5.4	DISEASES inferred ¹⁵
7	NOX4	NADPH Oxidase 4	Protein Coding	5.1	DISEASES inferred ¹⁵
8	DUOXA2	Dual Oxidase Maturation Factor 2	Protein Coding	4.93	DISEASES inferred ¹⁵
9	ALPI	Alkaline Phosphatase, Intestinal	Protein Coding	4.88	DISEASES inferred ¹⁵
10	GPX2	Glutathione Peroxidase 2	Protein Coding	4.28	DISEASES inferred ¹⁵
11	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	3.85	DISEASES inferred ¹⁵
12	GPX1	Glutathione Peroxidase 1	Protein Coding	3.61	DISEASES inferred ¹⁵
13	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	3.58	DISEASES inferred ¹⁵
14	CXCL2	C-X-C Motif Chemokine Ligand 2	Protein Coding	3.41	DISEASES inferred ¹⁵

Sources

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

⁶ (show top 50) (show all 94)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	CYBA	nsv513777	Deletion	Pathogenic	2256
2	CYBA	NM_000101.4(CYBA):c.269G>A (p.Arg90Gln)	SNV	Pathogenic	2258	rs104894513	16:88713181-88713181	16:88646773-88646773
3	CYBA	NM_000101.4(CYBA):c.354C>A (p.Ser118Arg)	SNV	Pathogenic	2259	rs104894514	16:88712539-88712539	16:88646131-88646131
4	CYBA	NM_000101.4(CYBA):c.467C>A (p.Pro156Gln)	SNV	Pathogenic	2260	rs104894515	16:88709882-88709882	16:88643474-88643474
5	CYBA	NM_000101.4(CYBA):c.281A>G (p.His94Arg)	SNV	Pathogenic	2261	rs104894510	16:88713169-88713169	16:88646761-88646761
6	CYBA	NM_000101.4(CYBA):c.287+1G>A	SNV	Pathogenic	2262	rs1567609091	16:88713162-88713162	16:88646754-88646754
7	CYBA	NM_000101.4(CYBA):c.7C>T (p.Gln3Ter)	SNV	Pathogenic	2264	rs104894511	16:88717415-88717415	16:88651007-88651007
8	CYBA	NM_000101.4(CYBA):c.70G>A (p.Gly24Arg)	SNV	Pathogenic	2265	rs28941476	16:88714511-88714511	16:88648103-88648103
9	CYBA	NM_000101.4(CYBA):c.373G>A (p.Ala125Thr)	SNV	Pathogenic	2267	rs119103269	16:88709976-88709976	16:88643568-88643568
10	CYBA	NM_000101.4(CYBA):c.268C>T (p.Arg90Trp)	SNV	Pathogenic	68211	rs179363892	16:88713182-88713182	16:88646774-88646774
11	CYBA	NM_000101.4(CYBA):c.288-15C>G	SNV	Pathogenic	619029	rs1567608853	16:88712620-88712620	16:88646212-88646212
12	CYBA	NM_000101.4(CYBA):c.246del (p.Phe83fs)	Deletion	Pathogenic	619030	rs1439134665	16:88713204-88713204	16:88646796-88646796
13	CYBA	NM_000101.4(CYBA):c.21del (p.Met8fs)	Deletion	Pathogenic	650083	rs1597374562	16:88717401-88717401	16:88650993-88650993
14	CYBA	NM_000101.4(CYBA):c.166del (p.Arg56fs)	Deletion	Pathogenic	661264	rs1352931329	16:88713546-88713546	16:88647138-88647138
15	CYBA	NC_000016.10:g.(?_88643329)_(88643581_?)del	Deletion	Pathogenic	830689		16:88709737-88709989
16	CYBA	NC_000016.10:g.(?_88643329)_(88648134_?)del	Deletion	Pathogenic	833221		16:88709737-88714542
17	CYBA	NM_000101.4(CYBA):c.26G>A (p.Trp9Ter)	SNV	Pathogenic	862425		16:88717396-88717396	16:88650988-88650988
18	CYBA	NM_000101.4(CYBA):c.204-2A>G	SNV	Pathogenic	953311		16:88713248-88713248	16:88646840-88646840
19	CYBA	NM_000101.4(CYBA):c.261C>A (p.Tyr87Ter)	SNV	Pathogenic	953658		16:88713189-88713189	16:88646781-88646781
20	CYBA	NM_000101.4(CYBA):c.288-13_310del	Deletion	Pathogenic	2266		16:88712583-88712618	16:88646175-88646210
21	CYBA	NM_000101.4(CYBA):c.287+2T>C	SNV	Likely pathogenic	965927		16:88713161-88713161	16:88646753-88646753
22	CYBA	NM_000101.4(CYBA):c.295del (p.Val99fs)	Deletion	Likely pathogenic	941734		16:88712598-88712598	16:88646190-88646190
23	CYBA	NC_000016.10:g.(?_88646106)_(88647185_?)del	Deletion	Likely pathogenic	831033		16:88712514-88713593
24	CYBA	NM_000101.4(CYBA):c.203+102_404del	Deletion	Likely pathogenic	845152		16:88709945-88713407	16:88643537-88646999
25	CYBA	NM_000101.4(CYBA):c.226G>A (p.Val76Met)	SNV	Conflicting interpretations of pathogenicity	733197	rs149344911	16:88713224-88713224	16:88646816-88646816
26	CYBA	NM_000101.4(CYBA):c.479C>G (p.Pro160Arg)	SNV	Uncertain significance	864020		16:88709870-88709870	16:88643462-88643462
27	CYBA	NM_000101.4(CYBA):c.211A>C (p.Lys71Gln)	SNV	Uncertain significance	946421		16:88713239-88713239	16:88646831-88646831
28	CYBA	NM_000101.4(CYBA):c.574G>C (p.Asp192His)	SNV	Uncertain significance	948436		16:88709775-88709775	16:88643367-88643367
29	CYBA	NM_000101.4(CYBA):c.288-3del	Deletion	Uncertain significance	950349		16:88712608-88712608	16:88646200-88646200
30	CYBA	NM_000101.4(CYBA):c.452C>T (p.Pro151Leu)	SNV	Uncertain significance	950463		16:88709897-88709897	16:88643489-88643489
31	CYBA	NM_000101.4(CYBA):c.94C>T (p.Arg32Cys)	SNV	Uncertain significance	848548		16:88714487-88714487	16:88648079-88648079
32	CYBA	NM_000101.4(CYBA):c.505G>A (p.Glu169Lys)	SNV	Uncertain significance	851807		16:88709844-88709844	16:88643436-88643436
33	CYBA	NM_000101.4(CYBA):c.304G>A (p.Gly102Ser)	SNV	Uncertain significance	853154		16:88712589-88712589	16:88646181-88646181
34	CYBA	NM_000101.4(CYBA):c.486G>C (p.Glu162Asp)	SNV	Uncertain significance	858015		16:88709863-88709863	16:88643455-88643455
35	CYBA	NM_000101.4(CYBA):c.567G>A (p.Pro189=)	SNV	Uncertain significance	859385		16:88709782-88709782	16:88643374-88643374
36	CYBA	NM_000101.4(CYBA):c.577G>A (p.Glu193Lys)	SNV	Uncertain significance	844416		16:88709772-88709772	16:88643364-88643364
37	CYBA	NM_000101.4(CYBA):c.223G>A (p.Ala75Thr)	SNV	Uncertain significance	844815		16:88713227-88713227	16:88646819-88646819
38	CYBA	NM_000101.4(CYBA):c.421C>T (p.Arg141Trp)	SNV	Uncertain significance	664410	rs776763356	16:88709928-88709928	16:88643520-88643520
39	CYBA	NM_000101.4(CYBA):c.241G>C (p.Gly81Arg)	SNV	Uncertain significance	664427	rs754773481	16:88713209-88713209	16:88646801-88646801
40	CYBA	NM_000101.4(CYBA):c.293C>T (p.Ser98Leu)	SNV	Uncertain significance	664770	rs201755210	16:88712600-88712600	16:88646192-88646192
41	CYBA	NM_000101.4(CYBA):c.128+5C>G	SNV	Uncertain significance	651593	rs749332805	16:88714448-88714448	16:88648040-88648040
42	CYBA	NM_000101.4(CYBA):c.422G>A (p.Arg141Gln)	SNV	Uncertain significance	654116	rs1242215580	16:88709927-88709927	16:88643519-88643519
43	CYBA	NM_000101.4(CYBA):c.350C>T (p.Ala117Val)	SNV	Uncertain significance	655008	rs868210009	16:88712543-88712543	16:88646135-88646135
44	CYBA	NM_000101.4(CYBA):c.128+5C>T	SNV	Uncertain significance	657609	rs749332805	16:88714448-88714448	16:88648040-88648040
45	CYBA	NM_000101.4(CYBA):c.475C>T (p.Pro159Ser)	SNV	Uncertain significance	638954	rs558222148	16:88709874-88709874	16:88643466-88643466
46	CYBA	NM_000101.4(CYBA):c.527C>T (p.Ala176Val)	SNV	Uncertain significance	642309	rs772492771	16:88709822-88709822	16:88643414-88643414
47	CYBA	NM_000101.4(CYBA):c.58+4_58+7del	Microsatellite	Uncertain significance	643066	rs771926427	16:88717357-88717360	16:88650949-88650952
48	CYBA	NM_000101.4(CYBA):c.199C>T (p.Arg67Cys)	SNV	Uncertain significance	645632	rs765388584	16:88713513-88713513	16:88647105-88647105
49	CYBA	NC_000016.9:g.(?_88709737)_(88718353_?)dup	Duplication	Uncertain significance	646964		16:88709737-88718353	16:88643329-88651945
50	CYBA	NM_000101.4(CYBA):c.539C>G (p.Pro180Arg)	SNV	Uncertain significance	649833	rs1207976536	16:88709810-88709810	16:88643402-88643402

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

⁷³ (show all 12)

#	Symbol	AA change	Variation ID	SNP ID
1	CYBA	p.Arg90Gln	VAR_005123	rs104894513
2	CYBA	p.His94Arg	VAR_005124	rs104894510
3	CYBA	p.Ser118Arg	VAR_005125	rs104894514
4	CYBA	p.Pro156Gln	VAR_005126	rs104894515
5	CYBA	p.Gly24Arg	VAR_012755	rs28941476
6	CYBA	p.Gly25Val	VAR_060576	rs179363891
7	CYBA	p.Leu52Pro	VAR_060577	rs179363890
8	CYBA	p.Glu53Val	VAR_060578	rs179363893
9	CYBA	p.Arg90Trp	VAR_060579	rs179363892
10	CYBA	p.Ala124Val	VAR_060580	rs179363894
11	CYBA	p.Ala125Thr	VAR_060581	rs119103269
12	CYBA	p.Gly25Asp	VAR_071860	rs179363891

Sources

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 4.

Sources

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

(show all 24)

#	Super pathways	Score	Top Affiliating Genes
1	Integrin Pathway ⁶³ Show member pathways FAK1 Signaling ⁶³ GnRH Signaling ⁶³ Inhibition of Angiogenesis by TSP1 ⁶³ Transendothelial Migration of Leukocytes ⁶³ UPA-UPAR Pathway ⁶³	13.25	NOX1 NCF4 NCF2 NCF1 CYBB CYBA
2	PAK Pathway ⁶³ Show member pathways Antioxidant Action of Vitamin-C ⁶³ Epithelial Adherens Junctions ⁶³	13.14	NOX4 NOX1 NCF4 NCF2 NCF1 CYBB
3	Signaling by Rho GTPases ⁶⁵ Show member pathways RHO GTPase Effectors ⁶⁵	12.87	NOX1 NCF4 NCF2 NCF1 CYBB CYBA
4	Cellular Senescence (REACTOME) ⁶⁵ Show member pathways Cellular responses to stress ⁶⁵ Cellular Senescence ⁶⁵ Oxidative Stress Induced Senescence ⁶⁵	12.81	NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
5	Aldosterone synthesis and secretion ³⁶ Show member pathways Ca2+ activated K+ channels ⁶⁵ Cortisol synthesis and secretion ³⁶ Cushing syndrome ³⁶ Insulin secretion ³⁶ Melanogenesis ³⁶ Thyroid hormone synthesis ³⁶	12.76	GPX2 GPX1 DUOXA2 DUOX2 DUOX1
6	Prion disease ³⁶ Show member pathways Parkinson disease ³⁶	12.7	NCF4 NCF2 NCF1 CYBB CYBA
7	Blood-Brain Barrier and Immune Cell Transmigration: VCAM-1/CD106 Signaling Pathways ⁶⁴ Show member pathways Blood-Brain Barrier and Immune Cell Transmigration: CCL2/MCP-1 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: ICAM-1/CD54 Signaling Pathways ⁶⁴ Blood-Brain Barrier and Immune Cell Transmigration: VEGF Signaling Pathways ⁶⁴ Leukocyte transendothelial migration ³⁶	12.5	NOX4 NCF4 NCF2 NCF1 CYBB CYBA
8	Antigen processing-Cross presentation ⁶⁵ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁵ Endosomal/Vacuolar pathway ⁶⁵ ER-Phagosome pathway ⁶⁵ Immune response Antigen presentation by MHC class I ²³	12.32	NCF4 NCF2 NCF1 CYBB CYBA
9	G-protein signaling RAC1 in cellular process ²³ Show member pathways CDC42 signaling events ¹ Cytoskeleton remodeling CDC42 in cellular processes ²³ RAC1 signaling pathway ¹	12.25	NOX1 NCF2 NCF1 CYBB CYBA
10	Insulin receptor recycling ⁶⁵ Show member pathways Collecting duct acid secretion ³⁶ Epithelial cell signaling in Helicobacter pylori infection ³⁶ Iron uptake and transport ⁶⁵ ROS, RNS production in phagocytes ⁶⁵ Transferrin endocytosis and recycling ⁶⁵ Vibrio cholerae infection ³⁶	12.25	NCF4 NCF2 NCF1 CYBB CYBA CXCL2
11	Immune response CCR3 signaling in eosinophils ²³ Show member pathways Inhibitory action of Lipoxins on neutrophil migration ²³	12.22	NCF2 NCF1 CYBB CYBA
12	Toxoplasmosis ³⁶ Show member pathways Leishmaniasis ³⁶	12.13	NCF4 NCF2 NCF1 CYBB CYBA
13	NOD-like receptor signaling pathway ³⁶	12.04	CYBB CYBA CXCL2
14	Phagosome ³⁶	11.98	NCF4 NCF2 NCF1 CYBB CYBA
15	Remodeling of Adherens Junctions ⁶³	11.96	NCF2 NCF1 CYBB CYBA
16	Fluid shear stress and atherosclerosis ³⁶	11.95	NOX1 NCF2 NCF1 CYBA
17	Osteoclast differentiation ³⁶	11.87	NOX1 NCF4 NCF2 NCF1 CYBA
18	AGE-RAGE signaling pathway in diabetic complications ³⁶	11.77	NOX4 NOX1 CYBB
19	Inhibitory action of Lipoxins on Superoxide production in neutrophils ²³ Show member pathways Inhibitory action of Lipoxins and Resolvin E1 on neutrophil functions ²³	11.52	NCF4 NCF2 NCF1 CYBB CYBA
20	Amine-derived hormones ⁶⁵ Show member pathways Regulation of thyroid hormone activity ⁶⁵ serotonin and melatonin biosynthesis ¹ Serotonin and melatonin biosynthesis ⁶⁵ Thyroxine biosynthesis ⁶⁵	11.22	DUOX2 DUOX1
21	Oxidative Stress ¹	11.16	NOX4 GPX1 CYBA
22	Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics ⁶⁰	10.99	NCF4 CYBA
23	Detoxification of Reactive Oxygen Species ⁶⁵ Show member pathways Oxidative Stress Regulatory Pathway (Erythrocyte) ⁶⁰ reactive oxygen species degradation ¹	10.97	NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
24	RHO GTPases Activate NADPH Oxidases ⁶⁵	10.55	NOX1 NCF4 NCF2 NCF1 CYBB CYBA

Sources

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	apical plasma membrane	GO:0016324	9.62	NOX4 DUOX2 DUOX1 CYBA
2	cell leading edge	GO:0031252	9.43	DUOXA2 DUOX2 DUOX1
3	perinuclear endoplasmic reticulum	GO:0097038	9.33	NOX4 CYBB CYBA
4	NADPH oxidase complex	GO:0043020	9.28	NOX4 NOX1 NCF4 NCF2 NCF1 DUOX2
5	phagolysosome	GO:0032010	9.13	NCF4 NCF2 NCF1

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

(show all 26)

#	Name	GO ID	Score	Top Affiliating Genes
1	oxidation-reduction process	GO:0055114	10.06	NOX4 NOX1 NCF4 NCF2 NCF1 GPX2
2	inflammatory response	GO:0006954	9.99	NOX4 NOX1 CYBB CYBA CXCL2
3	defense response	GO:0006952	9.91	NOX4 NOX1 DUOX2 DUOX1 CYBB CXCL2
4	antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent	GO:0002479	9.88	NCF4 NCF2 NCF1 CYBB CYBA
5	electron transport chain	GO:0022900	9.88	NOX4 NCF2 NCF1 GPX2 CYBB CYBA
6	response to oxidative stress	GO:0006979	9.85	GPX2 GPX1 DUOX2 DUOX1
7	vascular endothelial growth factor receptor signaling pathway	GO:0048010	9.85	NCF4 NCF2 NCF1 CYBB CYBA
8	cell redox homeostasis	GO:0045454	9.85	NCF4 NCF2 NCF1 GPX1 CYBB CYBA
9	cellular oxidant detoxification	GO:0098869	9.81	GPX2 GPX1 DUOX2 DUOX1
10	reactive oxygen species metabolic process	GO:0072593	9.73	NOX4 DUOX1 CYBA
11	superoxide metabolic process	GO:0006801	9.73	NOX4 NCF4 NCF2 NCF1 CYBB CYBA
12	hydrogen peroxide catabolic process	GO:0042744	9.71	GPX1 DUOX2 DUOX1
13	positive regulation of cell motility	GO:2000147	9.7	DUOXA2 DUOX2 DUOX1
14	hydrogen peroxide biosynthetic process	GO:0050665	9.67	DUOX2 DUOX1 CYBA
15	cellular response to cadmium ion	GO:0071276	9.63	NCF1 CYBB
16	respiratory burst	GO:0045730	9.63	NOX1 NCF4 NCF2 NCF1 CYBB CYBA
17	cellular response to gamma radiation	GO:0071480	9.62	NOX4 CYBA
18	positive regulation of wound healing	GO:0090303	9.62	DUOX2 DUOX1
19	thyroid hormone generation	GO:0006590	9.61	DUOX2 DUOX1
20	hormone biosynthetic process	GO:0042446	9.61	DUOX2 DUOX1
21	hydrogen peroxide metabolic process	GO:0042743	9.6	NOX1 DUOXA2
22	cellular response to L-glutamine	GO:1904845	9.58	CYBB CYBA
23	response to aldosterone	GO:1904044	9.58	CYBB CYBA
24	cuticle development	GO:0042335	9.57	DUOX2 DUOX1
25	cellular response to oxidative stress	GO:0034599	9.56	NOX4 NCF4 NCF2 NCF1 GPX2 GPX1
26	superoxide anion generation	GO:0042554	9.23	NOX4 NOX1 NCF2 NCF1 DUOX2 DUOX1

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	heme binding	GO:0020037	9.77	NOX4 DUOX2 DUOX1 CYBB CYBA
2	oxidoreductase activity	GO:0016491	9.76	NOX4 NOX1 GPX2 GPX1 DUOX2 DUOX1
3	SH3 domain binding	GO:0017124	9.61	NCF1 GPX1 CYBA
4	superoxide-generating NADPH oxidase activator activity	GO:0016176	9.58	NCF4 NCF2 NCF1
5	peroxidase activity	GO:0004601	9.56	GPX2 GPX1 DUOX2 DUOX1
6	NAD(P)H oxidase activity	GO:0016174	9.5	NOX4 DUOX2 DUOX1
7	NADP binding	GO:0050661	9.48	NOX1 DUOX1
8	glutathione peroxidase activity	GO:0004602	9.46	GPX2 GPX1
9	electron transfer activity	GO:0009055	9.43	NOX4 NCF2 NCF1 GPX2 CYBB CYBA
10	superoxide-generating NADPH oxidase activity	GO:0016175	9.28	NOX4 NOX1 NCF4 NCF2 NCF1 DUOX2

Sources

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, 4

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Mar-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia

Granulomatous Disease, Chronic, Autosomal Recessive, 4 (CGD4)

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, 4

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Diseases in the Chronic Granulomatous Disease family:

Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

MGI Mouse Phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, 4

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Genes for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Genes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 (1 elite genes):

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 4:

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, 4

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, 4 according to GeneCards Suite gene sharing:

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, 4