MCID: CHR370
MIFTS: 11

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

Genetic diseases (common) category
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Summaries for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

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MalaCards based summary: Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba and has symptoms including An important gene associated with Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba is CYBA (cytochrome b-245, alpha polypeptide).

Description from OMIM:46 233690

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

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

Name: Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 46


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


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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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Drug clinical trials:

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

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

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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:

64 (show all 11)
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

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

6 (show all 11)
id Gene Name 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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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba

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

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  • Antibodies
  • Proteins
  • Lysates

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet