ARCGD
MCID: CHR370
MIFTS: 24

Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba (ARCGD) malady

Categories: Genetic diseases

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

Aliases & Descriptions for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

Name: Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 54 13
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 66 29
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 66
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 69
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative 24
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 66
Cyba Deficiency 66
Arcgd 66

Characteristics:

HPO:

32
chronic granulomatous disease, autosomal, due to deficiency of cyba:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 233690
MedGen 40 C1856255
MeSH 42 D006105

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... (233690) more...

MalaCards based summary : Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba, is also known as chronic granulomatous disease autosomal recessive cytochrome b-negative, and has symptoms including splenomegaly, hepatomegaly and recurrent pneumonia. 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 : 66 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 by clinical synopsis from OMIM:

233690

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

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

Interventional clinical trials:


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

66 (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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