MCID: CHR370
MIFTS: 27

Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba malady

Genetic diseases (common) category

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

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

Name: Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 49 11
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative 22 24
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 67
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 67
 
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 67
Cyba Deficiency 67
Arcgd 67


Classifications:



External Ids:

OMIM49 233690
MedGen34 C1856255
MeSH36 D006105

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

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OMIM:49 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 autosomal recessive inheritance, eczematoid dermatitis 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 Polypeptide). Affiliated tissues include neutrophil, testes and skin.

UniProtKB/Swiss-Prot:67 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...

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

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Symptoms by clinical synopsis from OMIM:

233690

Clinical features from OMIM:

233690

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

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 eczematoid dermatitis HP:0000976
3 hepatic abscesses due to immunodeficiency HP:0001400
4 splenomegaly HP:0001744
5 hepatomegaly HP:0002240
6 lymphadenopathy HP:0002716
7 absence of bactericidal oxidative 'respiratory burst' in phagocytes HP:0002723
8 recurrent aspergillus infections HP:0002724
9 recurrent staphylococcus aureus infections HP:0002726
10 recurrent e. coli infections HP:0002740
11 recurrent serratia marcescens infections HP:0002741
12 recurrent klebsiella infections HP:0002742
13 osteomyelitis due to immunodeficiency HP:0002755
14 lymphadenitis HP:0002840
15 recurrent burkholderia cepacia infections HP:0002842
16 granulomatosis HP:0002955
17 negative nitroblue tetrazolium (nbt) reduction test HP:0003203
18 decreased activity of nadph oxidase HP:0003206
19 deficiency or absence of cytochrome b(-245) HP:0003514
20 cellulitis due to immunodeficiency HP:0003553
21 juvenile onset HP:0003621
22 rectal abscess HP:0005224
23 recurrent bacterial skin infections HP:0005406
24 recurrent pneumonia HP:0006532
25 discoid lupus erythematosus HP:0007417

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative22 CYBA
2 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative24

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

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

33
Neutrophil, Testes, Skin

Animal Models for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of... or affiliated genes

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

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

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

67 (show all 12)
id Symbol AA change Variation ID SNP ID
1CYBAp.Arg90GlnVAR_005123
2CYBAp.His94ArgVAR_005124
3CYBAp.Ser118ArgVAR_005125rs104894514
4CYBAp.Pro156GlnVAR_005126
5CYBAp.Gly24ArgVAR_012755rs28941476
6CYBAp.Gly25ValVAR_060576rs179363891
7CYBAp.Leu52ProVAR_060577rs179363890
8CYBAp.Glu53ValVAR_060578rs179363893
9CYBAp.Arg90TrpVAR_060579rs179363892
10CYBAp.Ala124ValVAR_060580rs179363894
11CYBAp.Ala125ThrVAR_060581
12CYBAp.Gly25AspVAR_071860

Clinvar genetic disease variations for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1CYBAnsv513777deletionPathogenic
2CYBACYBA, 1-BP DEL, 272CdeletionPathogenic
3CYBANM_000101.3(CYBA): c.269G> A (p.Arg90Gln)single nucleotide variantPathogenicrs104894513GRCh37Chr 16, 88713181: 88713181
4CYBANM_000101.3(CYBA): c.354C> A (p.Ser118Arg)single nucleotide variantPathogenicrs104894514GRCh37Chr 16, 88712539: 88712539
5CYBANM_000101.3(CYBA): c.467C> A (p.Pro156Gln)single nucleotide variantPathogenicrs104894515GRCh37Chr 16, 88709882: 88709882
6CYBANM_000101.3(CYBA): c.281A> G (p.His94Arg)single nucleotide variantPathogenicrs104894510GRCh37Chr 16, 88713169: 88713169
7CYBACYBA, IVS4DS, G-A, +1single nucleotide variantPathogenic
8CYBANM_000101.3(CYBA): c.7C> T (p.Gln3Ter)single nucleotide variantPathogenicrs104894511GRCh37Chr 16, 88717415: 88717415
9CYBANM_000101.3(CYBA): c.70G> A (p.Gly24Arg)single nucleotide variantPathogenicrs28941476GRCh37Chr 16, 88714511: 88714511
10CYBACYBA, 36-BP DELdeletionPathogenic
11CYBANM_000101.3(CYBA): c.373G> A (p.Ala125Thr)single nucleotide variantPathogenicrs119103269GRCh37Chr 16, 88709976: 88709976

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

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

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

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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet