ARCGD
MCID: GRN048
MIFTS: 26

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 73
Cyba Deficiency 57 12 75
Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 57 13
Cgd Due to Deficiency of the Alpha Subunit of Cytochrome B 57 12
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 75
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Negative 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 75
Chronic Granulomatous Disease Due to Deficiency of Cyba 12
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 75
Cgd, Autosomal Recessive Cytochrome B-Negative 57
Autosomal Recessive Cytochrome B-Negative Cgd 12
Arcgd 75

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:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



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, is also known as cyba deficiency. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative is CYBA (Cytochrome B-245 Alpha Chain). 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 : 75 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...

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

Symptoms via clinical synopsis from OMIM:

57
Abdomen Spleen:
splenomegaly

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

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Laboratory Abnormalities:
decreased activity of nadph oxidase
deficiency or absence of cytochrome b(-245)
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

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

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

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

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:

75 (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

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

6 (show top 50) (show all 62)
# 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 CYBA, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
12 CYBA NM_000101.3(CYBA): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic rs104894511 GRCh37 Chromosome 16, 88717415: 88717415
13 CYBA NM_000101.3(CYBA): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic rs104894511 GRCh38 Chromosome 16, 88651007: 88651007
14 CYBA NM_000101.3(CYBA): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs28941476 GRCh37 Chromosome 16, 88714511: 88714511
15 CYBA NM_000101.3(CYBA): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs28941476 GRCh38 Chromosome 16, 88648103: 88648103
16 CYBA CYBA, 36-BP DEL deletion Pathogenic
17 CYBA NM_000101.3(CYBA): c.373G> A (p.Ala125Thr) single nucleotide variant Pathogenic rs119103269 GRCh37 Chromosome 16, 88709976: 88709976
18 CYBA NM_000101.3(CYBA): c.373G> A (p.Ala125Thr) single nucleotide variant Pathogenic rs119103269 GRCh38 Chromosome 16, 88643568: 88643568
19 CYBA NM_000101.3(CYBA): c.268C> T (p.Arg90Trp) single nucleotide variant Pathogenic rs179363892 GRCh37 Chromosome 16, 88713182: 88713182
20 CYBA NM_000101.3(CYBA): c.268C> T (p.Arg90Trp) single nucleotide variant Pathogenic rs179363892 GRCh38 Chromosome 16, 88646774: 88646774
21 CYBA NM_000101.3(CYBA): c.179A> C (p.Lys60Thr) single nucleotide variant Benign/Likely benign rs11547387 GRCh37 Chromosome 16, 88713533: 88713533
22 CYBA NM_000101.3(CYBA): c.179A> C (p.Lys60Thr) single nucleotide variant Benign/Likely benign rs11547387 GRCh38 Chromosome 16, 88647125: 88647125
23 CYBA NM_000101.3(CYBA): c.381T> C (p.Arg127=) single nucleotide variant Benign rs12123 GRCh37 Chromosome 16, 88709968: 88709968
24 CYBA NM_000101.3(CYBA): c.381T> C (p.Arg127=) single nucleotide variant Benign rs12123 GRCh38 Chromosome 16, 88643560: 88643560
25 CYBA NM_000101.3(CYBA): c.237G> C (p.Leu79=) single nucleotide variant Benign rs2228472 GRCh37 Chromosome 16, 88713213: 88713213
26 CYBA NM_000101.3(CYBA): c.237G> C (p.Leu79=) single nucleotide variant Benign rs2228472 GRCh38 Chromosome 16, 88646805: 88646805
27 CYBA NM_000101.3(CYBA): c.480G> A (p.Pro160=) single nucleotide variant Benign rs72547284 GRCh37 Chromosome 16, 88709869: 88709869
28 CYBA NM_000101.3(CYBA): c.480G> A (p.Pro160=) single nucleotide variant Benign rs72547284 GRCh38 Chromosome 16, 88643461: 88643461
29 CYBA NM_000101.3(CYBA): c.204-4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs377055239 GRCh37 Chromosome 16, 88713250: 88713250
30 CYBA NM_000101.3(CYBA): c.204-4C> A single nucleotide variant Conflicting interpretations of pathogenicity rs377055239 GRCh38 Chromosome 16, 88646842: 88646842
31 CYBA NM_000101.3(CYBA): c.403G> A (p.Glu135Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114610092 GRCh37 Chromosome 16, 88709946: 88709946
32 CYBA NM_000101.3(CYBA): c.403G> A (p.Glu135Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs114610092 GRCh38 Chromosome 16, 88643538: 88643538
33 CYBA NM_000101.3(CYBA): c.527_529dupCGG (p.Ala176_Gly177insAla) duplication Conflicting interpretations of pathogenicity rs760275837 GRCh38 Chromosome 16, 88643412: 88643414
34 CYBA NM_000101.3(CYBA): c.527_529dupCGG (p.Ala176_Gly177insAla) duplication Conflicting interpretations of pathogenicity rs760275837 GRCh37 Chromosome 16, 88709820: 88709822
35 CYBA NM_000101.3(CYBA): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs202179890 GRCh37 Chromosome 16, 88713176: 88713176
36 CYBA NM_000101.3(CYBA): c.274G> A (p.Val92Ile) single nucleotide variant Uncertain significance rs202179890 GRCh38 Chromosome 16, 88646768: 88646768
37 CYBA NM_000101.3(CYBA): c.240C> T (p.Phe80=) single nucleotide variant Likely benign rs373948664 GRCh38 Chromosome 16, 88646802: 88646802
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) duplication Uncertain significance GRCh38 Chromosome 16, 88643508: 88643555
40 CYBA NM_000101.3(CYBA) duplication Uncertain significance GRCh37 Chromosome 16, 88709916: 88709963
41 CYBA NM_000101.3(CYBA): c.370-5C> T single nucleotide variant Uncertain significance rs778207143 GRCh38 Chromosome 16, 88643576: 88643576
42 CYBA NM_000101.3(CYBA): c.370-5C> T single nucleotide variant Uncertain significance rs778207143 GRCh37 Chromosome 16, 88709984: 88709984
43 CYBA NM_000101.3(CYBA): c.203+5G> A single nucleotide variant Uncertain significance rs200590340 GRCh38 Chromosome 16, 88647096: 88647096
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.549C> G (p.Pro183=) single nucleotide variant Likely benign GRCh38 Chromosome 16, 88643392: 88643392
46 CYBA NM_000101.3(CYBA): c.549C> G (p.Pro183=) single nucleotide variant Likely benign GRCh37 Chromosome 16, 88709800: 88709800
47 CYBA NM_000101.3(CYBA): c.36G> A (p.Glu12=) single nucleotide variant Benign rs8053867 GRCh37 Chromosome 16, 88717386: 88717386
48 CYBA NM_000101.3(CYBA): c.36G> A (p.Glu12=) single nucleotide variant Benign rs8053867 GRCh38 Chromosome 16, 88650978: 88650978
49 CYBA NM_000101.3(CYBA): c.294G> A (p.Ser98=) single nucleotide variant Likely benign rs146079546 GRCh37 Chromosome 16, 88712599: 88712599
50 CYBA NM_000101.3(CYBA): c.294G> A (p.Ser98=) single nucleotide variant Likely benign rs146079546 GRCh38 Chromosome 16, 88646191: 88646191

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