ARCGD
MCID: GRN048
MIFTS: 39

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 58 30 6 41 74
Cyba Deficiency 58 12 76
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative 12 15
Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 58 13
Cgd Due to Deficiency of the Alpha Subunit of Cytochrome B 58 12
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 76
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 76
Chronic Granulomatous Disease Due to Deficiency of Cyba 12
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 76
Cgd, Autosomal Recessive Cytochrome B-Negative 58
Autosomal Recessive Cytochrome B-Negative Cgd 12
Arcgd 76

Characteristics:

OMIM:

58
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:

33
granulomatous disease, chronic, autosomal recessive, cytochrome b-negative:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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 cyba deficiency, 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 liver, 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 : 76 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:

33 (show all 24)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 immunodeficiency 33 HP:0002721
4 osteomyelitis 33 HP:0002754
5 recurrent pneumonia 33 HP:0006532
6 cellulitis 33 HP:0100658
7 liver abscess 33 HP:0100523
8 lymphadenopathy 33 HP:0002716
9 recurrent bacterial skin infections 33 HP:0005406
10 granulomatosis 33 HP:0002955
11 recurrent aspergillus infections 33 HP:0002724
12 rectal abscess 33 HP:0005224
13 decreased activity of nadph oxidase 33 HP:0003206
14 lymphadenitis 33 HP:0002840
15 eczematoid dermatitis 33 HP:0000976
16 recurrent staphylococcus aureus infections 33 HP:0002726
17 deficiency or absence of cytochrome b(-245) 33 HP:0003514
18 discoid lupus rash 33 HP:0007417
19 absence of bactericidal oxidative respiratory burst in phagocytes 33 HP:0002723
20 recurrent e. coli infections 33 HP:0002740
21 recurrent serratia marcescens infections 33 HP:0002741
22 recurrent klebsiella infections 33 HP:0002742
23 recurrent burkholderia cepacia infections 33 HP:0002842
24 impaired oxidative burst 33 HP:0003203

Symptoms via clinical synopsis from OMIM:

58
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)
deficiency or absence of p91-phox protein
deficiency or absence of p22-phox protein
negative nitroblue tetrazolium (nbt) reduction test

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 30 CYBA

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

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

42
Neutrophil, Skin, Liver, Bone, Testes

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

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

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

76 (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

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

6 (show top 50) (show all 67)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYBA nsv513777 deletion Pathogenic
2 CYBA CYBA, 1-BP DEL, 272C deletion Pathogenic
3 CYBA NM_000101.3(CYBA): c.269G> A (p.Arg90Gln) single nucleotide variant Pathogenic rs104894513 GRCh37 Chromosome 16, 88713181: 88713181
4 CYBA NM_000101.3(CYBA): c.269G> A (p.Arg90Gln) single nucleotide variant Pathogenic rs104894513 GRCh38 Chromosome 16, 88646773: 88646773
5 CYBA NM_000101.3(CYBA): c.354C> A (p.Ser118Arg) single nucleotide variant Pathogenic rs104894514 GRCh37 Chromosome 16, 88712539: 88712539
6 CYBA NM_000101.3(CYBA): c.354C> A (p.Ser118Arg) single nucleotide variant Pathogenic rs104894514 GRCh38 Chromosome 16, 88646131: 88646131
7 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh37 Chromosome 16, 88709882: 88709882
8 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh38 Chromosome 16, 88643474: 88643474
9 CYBA NM_000101.3(CYBA): c.281A> G (p.His94Arg) single nucleotide variant Pathogenic rs104894510 GRCh37 Chromosome 16, 88713169: 88713169
10 CYBA NM_000101.3(CYBA): c.281A> G (p.His94Arg) single nucleotide variant Pathogenic rs104894510 GRCh38 Chromosome 16, 88646761: 88646761
11 CYBA NM_000101.4(CYBA): c.287+1G> A single nucleotide variant Pathogenic GRCh37 Chromosome 16, 88713162: 88713162
12 CYBA NM_000101.4(CYBA): c.287+1G> A single nucleotide variant Pathogenic GRCh38 Chromosome 16, 88646754: 88646754
13 CYBA NM_000101.3(CYBA): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic rs104894511 GRCh37 Chromosome 16, 88717415: 88717415
14 CYBA NM_000101.3(CYBA): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic rs104894511 GRCh38 Chromosome 16, 88651007: 88651007
15 CYBA NM_000101.3(CYBA): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs28941476 GRCh37 Chromosome 16, 88714511: 88714511
16 CYBA NM_000101.3(CYBA): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs28941476 GRCh38 Chromosome 16, 88648103: 88648103
17 CYBA CYBA, 36-BP DEL deletion Pathogenic
18 CYBA NM_000101.3(CYBA): c.373G> A (p.Ala125Thr) single nucleotide variant Pathogenic rs119103269 GRCh37 Chromosome 16, 88709976: 88709976
19 CYBA NM_000101.3(CYBA): c.373G> A (p.Ala125Thr) single nucleotide variant Pathogenic rs119103269 GRCh38 Chromosome 16, 88643568: 88643568
20 CYBA NM_000101.3(CYBA): c.268C> T (p.Arg90Trp) single nucleotide variant Pathogenic rs179363892 GRCh37 Chromosome 16, 88713182: 88713182
21 CYBA NM_000101.3(CYBA): c.268C> T (p.Arg90Trp) single nucleotide variant Pathogenic rs179363892 GRCh38 Chromosome 16, 88646774: 88646774
22 CYBA NM_000101.3(CYBA): c.179A> C (p.Lys60Thr) single nucleotide variant Benign/Likely benign rs11547387 GRCh37 Chromosome 16, 88713533: 88713533
23 CYBA NM_000101.3(CYBA): c.179A> C (p.Lys60Thr) single nucleotide variant Benign/Likely benign rs11547387 GRCh38 Chromosome 16, 88647125: 88647125
24 CYBA NM_000101.3(CYBA): c.381T> C (p.Arg127=) single nucleotide variant Benign rs12123 GRCh37 Chromosome 16, 88709968: 88709968
25 CYBA NM_000101.3(CYBA): c.381T> C (p.Arg127=) single nucleotide variant Benign rs12123 GRCh38 Chromosome 16, 88643560: 88643560
26 CYBA NM_000101.3(CYBA): c.237G> C (p.Leu79=) single nucleotide variant Benign rs2228472 GRCh37 Chromosome 16, 88713213: 88713213
27 CYBA NM_000101.3(CYBA): c.237G> C (p.Leu79=) single nucleotide variant Benign rs2228472 GRCh38 Chromosome 16, 88646805: 88646805
28 CYBA NM_000101.3(CYBA): c.480G> A (p.Pro160=) single nucleotide variant Benign rs72547284 GRCh37 Chromosome 16, 88709869: 88709869
29 CYBA NM_000101.3(CYBA): c.480G> A (p.Pro160=) single nucleotide variant Benign rs72547284 GRCh38 Chromosome 16, 88643461: 88643461
30 CYBA NM_000101.3(CYBA): c.204-4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs377055239 GRCh37 Chromosome 16, 88713250: 88713250
31 CYBA NM_000101.3(CYBA): c.204-4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs377055239 GRCh38 Chromosome 16, 88646842: 88646842
32 CYBA NM_000101.3(CYBA): c.403G> A (p.Glu135Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114610092 GRCh37 Chromosome 16, 88709946: 88709946
33 CYBA NM_000101.3(CYBA): c.403G> A (p.Glu135Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114610092 GRCh38 Chromosome 16, 88643538: 88643538
34 CYBA NM_000101.3(CYBA): c.527_529dupCGG (p.Ala176_Gly177insAla) duplication Conflicting interpretations of pathogenicity rs760275837 GRCh38 Chromosome 16, 88643412: 88643414
35 CYBA NM_000101.3(CYBA): c.527_529dupCGG (p.Ala176_Gly177insAla) duplication Conflicting interpretations of pathogenicity rs760275837 GRCh37 Chromosome 16, 88709820: 88709822
36 CYBA NM_000101.3(CYBA): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs202179890 GRCh37 Chromosome 16, 88713176: 88713176
37 CYBA NM_000101.3(CYBA): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs202179890 GRCh38 Chromosome 16, 88646768: 88646768
38 CYBA NM_000101.3(CYBA): c.240C> T (p.Phe80=) single nucleotide variant Likely benign rs373948664 GRCh37 Chromosome 16, 88713210: 88713210
39 CYBA NM_000101.3(CYBA): c.240C> T (p.Phe80=) single nucleotide variant Likely benign rs373948664 GRCh38 Chromosome 16, 88646802: 88646802
40 CYBA NM_000101.3(CYBA) duplication Uncertain significance rs1555540977 GRCh38 Chromosome 16, 88643508: 88643555
41 CYBA NM_000101.3(CYBA) duplication Uncertain significance rs1555540977 GRCh37 Chromosome 16, 88709916: 88709963
42 CYBA NM_000101.3(CYBA): c.370-5C> T single nucleotide variant Uncertain significance rs778207143 GRCh38 Chromosome 16, 88643576: 88643576
43 CYBA NM_000101.3(CYBA): c.370-5C> T single nucleotide variant Uncertain significance rs778207143 GRCh37 Chromosome 16, 88709984: 88709984
44 CYBA NM_000101.3(CYBA): c.203+5G> A single nucleotide variant Uncertain significance rs200590340 GRCh37 Chromosome 16, 88713504: 88713504
45 CYBA NM_000101.3(CYBA): c.203+5G> A single nucleotide variant Uncertain significance rs200590340 GRCh38 Chromosome 16, 88647096: 88647096
46 CYBA NM_000101.3(CYBA): c.549C> G (p.Pro183=) single nucleotide variant Likely benign rs1327160850 GRCh38 Chromosome 16, 88643392: 88643392
47 CYBA NM_000101.3(CYBA): c.549C> G (p.Pro183=) single nucleotide variant Likely benign rs1327160850 GRCh37 Chromosome 16, 88709800: 88709800
48 CYBA NM_000101.3(CYBA): c.36G> A (p.Glu12=) single nucleotide variant Benign rs8053867 GRCh37 Chromosome 16, 88717386: 88717386
49 CYBA NM_000101.3(CYBA): c.36G> A (p.Glu12=) single nucleotide variant Benign rs8053867 GRCh38 Chromosome 16, 88650978: 88650978
50 CYBA NM_000101.3(CYBA): c.294G> A (p.Ser98=) single nucleotide variant Likely benign rs146079546 GRCh37 Chromosome 16, 88712599: 88712599

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 CYBA DUOX1 DUOX2 NOX1 NOX4
2 plasma membrane GO:0005886 9.72 CYBA DUOX1 DUOX2 NOX1 NOX4
3 cell junction GO:0030054 9.54 DUOX2 NOX1 NOX4
4 stress fiber GO:0001725 9.26 CYBA NOX4
5 apical plasma membrane GO:0016324 9.26 CYBA DUOX1 DUOX2 NOX4
6 perinuclear endoplasmic reticulum GO:0097038 9.16 CYBA NOX4
7 NADPH oxidase complex GO:0043020 8.8 CYBA NOX1 NOX4

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

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 CYBA DUOX1 DUOX2 NOX1 NOX4
2 heme binding GO:0020037 9.46 CYBA DUOX1 DUOX2 NOX4
3 electron transfer activity GO:0009055 9.4 CYBA NOX4
4 NADP binding GO:0050661 9.37 DUOX1 NOX1
5 peroxidase activity GO:0004601 9.32 DUOX1 DUOX2
6 superoxide-generating NADPH oxidase activity GO:0016175 9.13 CYBA NOX1 NOX4
7 NAD(P)H oxidase activity GO:0016174 8.8 DUOX1 DUOX2 NOX4

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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