MCID: CHR370
MIFTS: 26

Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba

Categories: Genetic diseases

Aliases & Classifications for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

MalaCards integrated aliases for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

Name: Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 54 13
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 29 69
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 71
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative 24
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 71
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 71
Cyba Deficiency 71
Arcgd 71

Characteristics:

OMIM:

54
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
chronic granulomatous disease, autosomal, due to deficiency of cyba:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

OMIM : 54
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 : Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba, is also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-negative, and has symptoms including hepatomegaly, splenomegaly and hepatic abscesses due to immunodeficiency. An important gene associated with Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba is CYBA (Cytochrome B-245 Alpha Chain). Affiliated tissues include neutrophil, testes and skin.

UniProtKB/Swiss-Prot : 71 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 Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Symptoms & Phenotypes for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Symptoms via clinical synopsis from OMIM:

54

Abdomen- Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Respiratory- Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Laboratory- Abnormalities:
negative nitroblue tetrazolium (nbt) reduction test
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

Abdomen- Spleen:
splenomegaly

Abdomen- Gastroin testinal:
perirectal abscesses due to immunodeficiency

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

Immunology:
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
abscess formation in any organ
lymphadenitis
more

Clinical features from OMIM:

233690

Human phenotypes related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

32 (show all 23)
id Description HPO Frequency HPO Source Accession
1 hepatomegaly 32 HP:0002240
2 splenomegaly 32 HP:0001744
3 hepatic abscesses due to immunodeficiency 32 HP:0001400
4 osteomyelitis due to immunodeficiency 32 HP:0002755
5 eczematoid dermatitis 32 HP:0000976
6 cellulitis due to immunodeficiency 32 HP:0003553
7 absence of bactericidal oxidative 'respiratory burst' in phagocytes 32 HP:0002723
8 lymphadenitis 32 HP:0002840
9 lymphadenopathy 32 HP:0002716
10 decreased activity of nadph oxidase 32 HP:0003206
11 recurrent pneumonia 32 HP:0006532
12 recurrent bacterial skin infections 32 HP:0005406
13 deficiency or absence of cytochrome b(-245) 32 HP:0003514
14 recurrent staphylococcus aureus infections 32 HP:0002726
15 granulomatosis 32 HP:0002955
16 recurrent aspergillus infections 32 HP:0002724
17 rectal abscess 32 HP:0005224
18 recurrent e. coli infections 32 HP:0002740
19 recurrent serratia marcescens infections 32 HP:0002741
20 recurrent klebsiella infections 32 HP:0002742
21 recurrent burkholderia cepacia infections 32 HP:0002842
22 negative nitroblue tetrazolium reduction test 32 HP:0003203
23 discoid lupus rash 32 HP:0007417

Drugs & Therapeutics for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease. Terminated NCT02926963

Search NIH Clinical Center for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba

Genetic Tests for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Genetic tests related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

id Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 29
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative 24 CYBA

Anatomical Context for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

MalaCards organs/tissues related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

39
Neutrophil, Testes, Skin

Publications for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Variations for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

UniProtKB/Swiss-Prot genetic disease variations for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

71 (show all 12)
id 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 Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

6 (show all 11)
id 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.354C> A (p.Ser118Arg) single nucleotide variant Pathogenic rs104894514 GRCh37 Chromosome 16, 88712539: 88712539
5 CYBA NM_000101.3(CYBA): c.467C> A (p.Pro156Gln) single nucleotide variant Pathogenic rs104894515 GRCh37 Chromosome 16, 88709882: 88709882
6 CYBA NM_000101.3(CYBA): c.281A> G (p.His94Arg) single nucleotide variant Pathogenic rs104894510 GRCh37 Chromosome 16, 88713169: 88713169
7 CYBA CYBA, IVS4DS, G-A, +1 single nucleotide variant Pathogenic
8 CYBA NM_000101.3(CYBA): c.7C> T (p.Gln3Ter) single nucleotide variant Pathogenic rs104894511 GRCh37 Chromosome 16, 88717415: 88717415
9 CYBA NM_000101.3(CYBA): c.70G> A (p.Gly24Arg) single nucleotide variant Pathogenic rs28941476 GRCh37 Chromosome 16, 88714511: 88714511
10 CYBA CYBA, 36-BP DEL deletion Pathogenic
11 CYBA NM_000101.3(CYBA): c.373G> A (p.Ala125Thr) single nucleotide variant Pathogenic rs119103269 GRCh37 Chromosome 16, 88709976: 88709976

Expression for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Search GEO for disease gene expression data for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba.

Pathways for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

GO Terms for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Sources for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

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