MCID: CHR370
MIFTS: 23

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

Category: Genetic diseases (common)

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 50 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 68 25
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 68
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative 23
 
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 68
Cyba Deficiency 68
Arcgd 68

Characteristics:

HPO:

62
chronic granulomatous disease, autosomal, due to deficiency of cyba:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 233690
MedGen35 C1856255
MeSH37 D006105

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

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OMIM:50 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 hepatomegaly, 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 Chain). Affiliated tissues include neutrophil, testes and skin.

UniProtKB/Swiss-Prot:68 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 23)
id Description Frequency HPO Source Accession
1 eczematoid dermatitis HP:0000976
2 hepatic abscesses due to immunodeficiency HP:0001400
3 splenomegaly HP:0001744
4 hepatomegaly HP:0002240
5 lymphadenopathy HP:0002716
6 absence of bactericidal oxidative 'respiratory burst' in phagocytes HP:0002723
7 recurrent aspergillus infections HP:0002724
8 recurrent staphylococcus aureus infections HP:0002726
9 recurrent e. coli infections HP:0002740
10 recurrent serratia marcescens infections HP:0002741
11 recurrent klebsiella infections HP:0002742
12 osteomyelitis due to immunodeficiency HP:0002755
13 lymphadenitis HP:0002840
14 recurrent burkholderia cepacia infections HP:0002842
15 granulomatosis HP:0002955
16 negative nitroblue tetrazolium reduction test HP:0003203
17 decreased activity of nadph oxidase HP:0003206
18 deficiency or absence of cytochrome b(-245) HP:0003514
19 cellulitis due to immunodeficiency HP:0003553
20 rectal abscess HP:0005224
21 recurrent bacterial skin infections HP:0005406
22 recurrent pneumonia HP:0006532
23 discoid lupus erythematosus HP:0007417

UMLS symptoms related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:


hepatomegaly

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Generation of Powerful Biological Tools for Understanding the Pathophysiology of Septic Granulomatous.RecruitingNCT02926963

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...

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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-Negative25
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative23 CYBA

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:

34
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:

68 (show all 12)
id Symbol AA change Variation ID SNP ID
1CYBAp.Arg90GlnVAR_005123rs104894513
2CYBAp.His94ArgVAR_005124rs104894510
3CYBAp.Ser118ArgVAR_005125rs104894514
4CYBAp.Pro156GlnVAR_005126rs104894515
5CYBAp.Gly24ArgVAR_012755rs28941476
6CYBAp.Gly25ValVAR_060576rs179363891
7CYBAp.Leu52ProVAR_060577rs179363890
8CYBAp.Glu53ValVAR_060578rs179363893
9CYBAp.Arg90TrpVAR_060579rs179363892
10CYBAp.Ala124ValVAR_060580rs179363894
11CYBAp.Ala125ThrVAR_060581rs119103269
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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet