MCID: CHR370
MIFTS: 24

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 49 11
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 67 24
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 65
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 67
 
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative 22
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 67
Cyba Deficiency 67
Arcgd 67

Characteristics:

HPO:

61
chronic granulomatous disease, autosomal, due to deficiency of cyba:
Onset and clinical course: juvenile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 233690
MedGen34 C1856255
MeSH36 D006105
UMLS65 C1856255

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

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

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