ARCGD
MCID: GRN048
MIFTS: 41

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative (ARCGD)

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

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 57 29 6 40 72
Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 57 29 13
Cyba Deficiency 57 12 74
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 74
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 74
Chronic Granulomatous Disease Due to Deficiency of Cyba 12
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 74
Cgd, Autosomal Recessive Cytochrome B-Negative 57
Autosomal Recessive Cytochrome B-Negative Cgd 12
Arcgd 74

Characteristics:

OMIM:

57
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:

32
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0070193
MeSH 44 D006105
MedGen 42 C1856255
UMLS 72 C1856255

Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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)

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative, also known as chronic granulomatous disease, autosomal, due to deficiency of cyba, is related to granulomatous disease, chronic, x-linked and hypothyroidism, central, and testicular enlargement. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative is CYBA (Cytochrome B-245 Alpha Chain), and among its related pathways/superpathways are Fluid shear stress and atherosclerosis and Osteoclast differentiation. Affiliated tissues include neutrophil, skin and testes, 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.

UniProtKB/Swiss-Prot : 74 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive: 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, Autosomal Recessive, Cytochrome...

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

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 cellulitis 32 HP:0100658
6 recurrent pneumonia 32 HP:0006532
7 recurrent bacterial skin infections 32 HP:0005406
8 liver abscess 32 HP:0100523
9 lymphadenopathy 32 HP:0002716
10 granulomatosis 32 HP:0002955
11 eczematoid dermatitis 32 HP:0000976
12 lymphadenitis 32 HP:0002840
13 recurrent staphylococcus aureus infections 32 HP:0002726
14 recurrent aspergillus infections 32 HP:0002724
15 rectal abscess 32 HP:0005224
16 decreased activity of nadph oxidase 32 HP:0003206
17 discoid lupus rash 32 HP:0007417
18 absence of bactericidal oxidative respiratory burst in phagocytes 32 HP:0002723
19 recurrent e. coli infections 32 HP:0002740
20 recurrent serratia marcescens infections 32 HP:0002741
21 recurrent klebsiella infections 32 HP:0002742
22 recurrent burkholderia cepacia infections 32 HP:0002842
23 impaired oxidative burst 32 HP:0003203
24 deficiency or absence of cytochrome b(-245) 32 HP:0003514

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
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

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

# Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 29 CYBA
2 Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 29

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

41
Neutrophil, Skin, Testes, Liver, Bone, Monocytes

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

(show all 15)
# Title Authors PMID Year
1
Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease. 8 71
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. 8 71
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. 8 71
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). 8 71
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. 8 71
2243141 1990
6
Quantitative nitroblue tetrazolium test in chronic granulomatous disease. 8 71
4384563 1968
7
Chronic Granulomatous Disease 71
22876374 2012
8
Mutation of the Cyba gene encoding p22phox causes vestibular and immune defects in mice. 8
18292807 2008
9
Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. 8
11060536 2000
10
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. 71
1763037 1991
11
Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. 8
2770793 1989
12
Absence of both the 91kD and 22kD subunits of human neutrophil cytochrome b in two genetic forms of chronic granulomatous disease. 8
2713485 1989
13
Activation of neutrophil NADPH oxidase in a cell-free system. Partial purification of components and characterization of the activation process. 71
3571224 1987
14
Cytochrome b deficiency in an autosomal form of chronic granulomatous disease. A third form of chronic granulomatous disease recognized by monocyte hybridization. 8
3980731 1985
15
Defensive Mutualism Rescues NADPH Oxidase Inactivation in Gut Infection. 38
27173933 2016

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative:

6 (show all 50)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CYBA nsv513777 deletion Pathogenic
2 CYBA CYBA, 1-BP DEL, 272C deletion Pathogenic
3 CYBA NM_000101.4(CYBA): c.269G> A (p.Arg90Gln) single nucleotide variant Pathogenic rs104894513 16:88713181-88713181 16:88646773-88646773
4 CYBA NM_000101.4(CYBA): c.354C> A (p.Ser118Arg) single nucleotide variant Pathogenic rs104894514 16:88712539-88712539 16:88646131-88646131
5 CYBA NM_000101.4(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 16:88709882-88709882 16:88643474-88643474
6 CYBA NM_000101.4(CYBA): c.281A> G (p.His94Arg) single nucleotide variant Pathogenic rs104894510 16:88713169-88713169 16:88646761-88646761
7 CYBA NM_000101.4(CYBA): c.287+1G> A single nucleotide variant Pathogenic 16:88713162-88713162 16:88646754-88646754
8 CYBA NM_000101.4(CYBA): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic rs104894511 16:88717415-88717415 16:88651007-88651007
9 CYBA NM_000101.4(CYBA): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs28941476 16:88714511-88714511 16:88648103-88648103
10 CYBA CYBA, 36-BP DEL deletion Pathogenic
11 CYBA NM_000101.4(CYBA): c.373G> A (p.Ala125Thr) single nucleotide variant Pathogenic rs119103269 16:88709976-88709976 16:88643568-88643568
12 CYBA NM_000101.4(CYBA): c.288-15C> G single nucleotide variant Pathogenic 16:88712620-88712620 16:88646212-88646212
13 CYBA NM_000101.4(CYBA): c.246del (p.Phe83fs) deletion Pathogenic 16:88713204-88713204 16:88646798-88646798
14 CYBA NM_000101.4(CYBA): c.166del (p.Arg56fs) deletion Pathogenic 16:88713546-88713546 16:88647142-88647142
15 CYBA NM_000101.4(CYBA): c.21del (p.Met8fs) deletion Pathogenic 16:88717401-88717401 16:88650994-88650994
16 CYBA NM_000101.4(CYBA): c.268C> T (p.Arg90Trp) single nucleotide variant Pathogenic rs179363892 16:88713182-88713182 16:88646774-88646774
17 CYBA NM_000101.4(CYBA): c.204-4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs377055239 16:88713250-88713250 16:88646842-88646842
18 CYBA NM_000101.4(CYBA): c.403G> A (p.Glu135Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114610092 16:88709946-88709946 16:88643538-88643538
19 CYBA NM_000101.4(CYBA): c.524_526CGG[3] (p.Ala176dup) short repeat Conflicting interpretations of pathogenicity rs760275837 16:88709820-88709822 16:88643412-88643414
20 CYBA NM_000101.4(CYBA): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs202179890 16:88713176-88713176 16:88646768-88646768
21 CYBA NM_000101.4(CYBA): c.386_433dup (p.Glu129_Ile144dup) duplication Uncertain significance rs1555540977 16:88709916-88709963 16:88643508-88643555
22 CYBA NM_000101.4(CYBA): c.370-5C> T single nucleotide variant Uncertain significance rs778207143 16:88709984-88709984 16:88643576-88643576
23 CYBA NM_000101.4(CYBA): c.203+5G> A single nucleotide variant Uncertain significance rs200590340 16:88713504-88713504 16:88647096-88647096
24 CYBA NM_000101.4(CYBA): c.193A> G (p.Met65Val) single nucleotide variant Uncertain significance 16:88713519-88713519 16:88647111-88647111
25 CYBA NM_000101.4(CYBA): c.166C> T (p.Arg56Trp) single nucleotide variant Uncertain significance 16:88713546-88713546 16:88647138-88647138
26 CYBA NM_000101.4(CYBA): c.395C> T (p.Thr132Met) single nucleotide variant Uncertain significance 16:88709954-88709954 16:88643546-88643546
27 CYBA NC_000016.9: g.(?_88709737)_(88718353_?)dup duplication Uncertain significance 16:88709737-88718353 16:88643329-88651945
28 CYBA NM_000101.4(CYBA): c.128+5C> T single nucleotide variant Uncertain significance 16:88714448-88714448 16:88648040-88648040
29 CYBA NM_000101.4(CYBA): c.128+5C> G single nucleotide variant Uncertain significance 16:88714448-88714448 16:88648040-88648040
30 CYBA NM_000101.4(CYBA): c.58+4_58+7del deletion Uncertain significance
31 CYBA NM_000101.4(CYBA): c.539C> G (p.Pro180Arg) single nucleotide variant Uncertain significance 16:88709810-88709810 16:88643402-88643402
32 CYBA NM_000101.4(CYBA): c.527C> T (p.Ala176Val) single nucleotide variant Uncertain significance 16:88709822-88709822 16:88643414-88643414
33 CYBA NM_000101.4(CYBA): c.475C> T (p.Pro159Ser) single nucleotide variant Uncertain significance 16:88709874-88709874 16:88643466-88643466
34 CYBA NM_000101.4(CYBA): c.422G> A (p.Arg141Gln) single nucleotide variant Uncertain significance 16:88709927-88709927 16:88643519-88643519
35 CYBA NM_000101.4(CYBA): c.421C> T (p.Arg141Trp) single nucleotide variant Uncertain significance 16:88709928-88709928 16:88643520-88643520
36 CYBA NM_000101.4(CYBA): c.350C> T (p.Ala117Val) single nucleotide variant Uncertain significance 16:88712543-88712543 16:88646135-88646135
37 CYBA NM_000101.4(CYBA): c.293C> T (p.Ser98Leu) single nucleotide variant Uncertain significance 16:88712600-88712600 16:88646192-88646192
38 CYBA NM_000101.4(CYBA): c.241G> C (p.Gly81Arg) single nucleotide variant Uncertain significance 16:88713209-88713209 16:88646801-88646801
39 CYBA NM_000101.4(CYBA): c.199C> T (p.Arg67Cys) single nucleotide variant Uncertain significance 16:88713513-88713513 16:88647105-88647105
40 CYBA NM_000101.4(CYBA): c.173A> G (p.Lys58Arg) single nucleotide variant Uncertain significance rs200016139 16:88713539-88713539 16:88647131-88647131
41 CYBA NM_000101.3(CYBA): c.-70G> A single nucleotide variant Likely benign rs72550704 16:88717491-88717491 16:88651083-88651083
42 CYBA NM_000101.4(CYBA): c.549C> G (p.Pro183=) single nucleotide variant Likely benign rs1327160850 16:88709800-88709800 16:88643392-88643392
43 CYBA NM_000101.4(CYBA): c.240C> T (p.Phe80=) single nucleotide variant Likely benign rs373948664 16:88713210-88713210 16:88646802-88646802
44 CYBA NM_000101.4(CYBA): c.294G> A (p.Ser98=) single nucleotide variant Likely benign rs146079546 16:88712599-88712599 16:88646191-88646191
45 CYBA NM_000101.4(CYBA): c.287+10C> G single nucleotide variant Likely benign rs755948366 16:88713153-88713153 16:88646745-88646745
46 CYBA NM_000101.4(CYBA): c.179A> C (p.Lys60Thr) single nucleotide variant Benign/Likely benign rs11547387 16:88713533-88713533 16:88647125-88647125
47 CYBA NM_000101.4(CYBA): c.381T> C (p.Arg127=) single nucleotide variant Benign rs12123 16:88709968-88709968 16:88643560-88643560
48 CYBA NM_000101.4(CYBA): c.237G> C (p.Leu79=) single nucleotide variant Benign rs2228472 16:88713213-88713213 16:88646805-88646805
49 CYBA NM_000101.4(CYBA): c.480G> A (p.Pro160=) single nucleotide variant Benign rs72547284 16:88709869-88709869 16:88643461-88643461
50 CYBA NM_000101.4(CYBA): c.36= (p.Glu12=) single nucleotide variant Benign rs8053867 16:88717386-88717386 16:88650978-88650978

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

74 (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

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.8 NOX4 NOX1 DUOX2 DUOX1 CYBA
2 plasma membrane GO:0005886 9.72 NOX4 NOX1 DUOX2 DUOX1 CYBA
3 cell junction GO:0030054 9.54 NOX4 NOX1 DUOX2
4 stress fiber GO:0001725 9.26 NOX4 CYBA
5 apical plasma membrane GO:0016324 9.26 NOX4 DUOX2 DUOX1 CYBA
6 perinuclear endoplasmic reticulum GO:0097038 9.16 NOX4 CYBA
7 NADPH oxidase complex GO:0043020 8.8 NOX4 NOX1 CYBA

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 inflammatory response GO:0006954 9.69 NOX4 NOX1 CYBA
2 response to hypoxia GO:0001666 9.6 NOX4 CYBA
3 response to oxidative stress GO:0006979 9.59 DUOX2 DUOX1
4 electron transport chain GO:0022900 9.58 NOX4 CYBA
5 cellular response to oxidative stress GO:0034599 9.58 NOX4 CYBA
6 cellular oxidant detoxification GO:0098869 9.57 DUOX2 DUOX1
7 cellular response to glucose stimulus GO:0071333 9.55 NOX4 CYBA
8 oxidation-reduction process GO:0055114 9.55 NOX4 NOX1 DUOX2 DUOX1 CYBA
9 positive regulation of smooth muscle cell proliferation GO:0048661 9.54 NOX1 CYBA
10 response to cAMP GO:0051591 9.52 DUOX2 DUOX1
11 cellular response to gamma radiation GO:0071480 9.49 NOX4 CYBA
12 hydrogen peroxide catabolic process GO:0042744 9.48 DUOX2 DUOX1
13 superoxide metabolic process GO:0006801 9.46 NOX4 CYBA
14 respiratory burst GO:0045730 9.43 NOX1 CYBA
15 reactive oxygen species metabolic process GO:0072593 9.43 NOX4 DUOX1 CYBA
16 thyroid hormone generation GO:0006590 9.4 DUOX2 DUOX1
17 hormone biosynthetic process GO:0042446 9.37 DUOX2 DUOX1
18 cuticle development GO:0042335 9.32 DUOX2 DUOX1
19 regulation of blood pressure GO:0008217 9.26 NOX1
20 hydrogen peroxide biosynthetic process GO:0050665 9.13 DUOX2 DUOX1 CYBA
21 superoxide anion generation GO:0042554 8.92 NOX4 NOX1 DUOX1 CYBA

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.65 NOX4 NOX1 DUOX2 DUOX1 CYBA
2 heme binding GO:0020037 9.46 NOX4 DUOX2 DUOX1 CYBA
3 electron transfer activity GO:0009055 9.4 NOX4 CYBA
4 NADP binding GO:0050661 9.37 NOX1 DUOX1
5 peroxidase activity GO:0004601 9.32 DUOX2 DUOX1
6 superoxide-generating NADPH oxidase activity GO:0016175 9.13 NOX4 NOX1 CYBA
7 NAD(P)H oxidase activity GO:0016174 8.8 NOX4 DUOX2 DUOX1

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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