MCID: CHR370
MIFTS: 14

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

Genetic diseases (common) category

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

About this section


OMIM:46 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 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).

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

About this section

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)


Related Diseases for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

About this section

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

About this section

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...

About this section

Drug clinical trials:

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

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...

About this section

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

About this section

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

About this section

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

About this section

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

About this section

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

63 (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:

7 (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...

About this section
Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba

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...

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

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

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet