MCID: CHR370
MIFTS: 38

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

Eye, Respiratory, Skin, Blood categories

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

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47OMIM, 33MalaCards
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MalaCards: Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba, also known as chronic granulomatous disease, is related to chronic granulomatous disease and autosomal recessive disease, and has symptoms including nasal congestion/sinusitis/rhinitis/rhinorrhea, chronic/relapsing otitis and skin photosensitivity. An important gene associated with Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba is CYBA (cytochrome b-245, alpha polypeptide), and among its related pathways are Doxorubicin Pathway (Cardiomyocyte Cell), Pharmacodynamics and Lymphocyte Signaling. The compounds peroxynitrite and hocl have been mentioned in the context of this disorder.

Description from OMIM:47 233670, 233690, 233700, 233710, 306400 613960 more

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

Sources:
49Orphanet, 47OMIM, 61UMLS, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Eye, Respiratory, Skin, Blood


Characteristics (Orphanet epidemiological data):

49
chronic granulomatous disease:
Inheritance: Autosomal recessive,X-linked recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

chronic granulomatous disease, autosomal, due to deficiency of cyba 47
chronic granulomatous disease 49 47
granulomatous disease, chronic 61
chronic septic granulomatosis 49


External Ids:

SNOMED-CT via Orphanet58 191352003, 387759001
UMLS via Orphanet62 C0018203
MESH via Orphanet36 D006105
ICD10 via Orphanet26 D71

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

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1chronic granulomatous disease32.2NCF2, CYBB, CYBA, NCF4
2autosomal recessive disease10.8
3aspergillosis10.7
4invasive aspergillosis10.6
5discoid lupus erythematosus10.6
6hematopoietic stem cell transplantation10.5
7brain disease10.5
8mcleod syndrome10.4
9job's syndrome10.4
10mu chain disease10.4
11chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii10.4
12chronic granulomatous disease, autosomal recessive, cytochrome b-negative10.4
13chronic granulomatous disease, x-linked10.4
14m�ni�re disease10.4
15lip disease10.4
16hemophagocytic lymphohistiocytosis10.3
17nocardiosis10.3
18kawasaki disease10.3
19n syndrome10.3
20splenic disease10.3
21tuberculosis10.3
22williams syndrome10.3
23chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type i10.3
24chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type ii10.3
25mcleod syndrome with or without chronic granulomatous disease10.3
26gastric outlet obstruction10.3
27acalculous cholecystitis10.2
28chediak-higashi syndrome10.2
29visceral leishmaniasis10.2
30leukocyte adhesion deficiency10.2
31retinitis pigmentosa10.2
32splenic abscess10.2
33celiac disease10.2
34duchenne muscular dystrophy10.2
35acne10.2
36autosomal genetic disease10.2
37thrombocytopenia10.2
38uveitis10.2
39eosinophilic cystitis10.2
40chronic granulomatous disease due to deficiency of ncf-210.2
41chronic granulomatous disease due to deficiency of ncf-110.2
42primary immunodeficiency disease10.2
43deficiency anemia10.1
44graft versus host disease10.1
45crohn's disease10.1
46ureteral obstruction10.1
47bronchiolitis10.1
48cystic fibrosis10.1
49supravalvular aortic stenosis10.1
50williams-beuren syndrome10.1

Graphical network of the top 20 diseases related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:



Diseases related to chronic granulomatous disease, autosomal, due to deficiency of cyba

Clinical Features for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

233670,233690,233700,233710,306400,613960

Clinical synopsis from OMIM:

233670

Symptoms:

49 (show all 25)
  • nasal congestion/sinusitis/rhinitis/rhinorrhea
  • chronic/relapsing otitis
  • skin photosensitivity
  • urticaria
  • macules
  • tracheo-esophageal fistula/esophageal atresia/stenosis
  • gastric/pyloric stenosis
  • malabsorption/chronic diarrhea/steatorrhea
  • hepatomegaly/liver enlargement (excluding storage disease)
  • mediastinal/hilar adenopathies
  • repeat respiratory infections
  • chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome
  • immunodeficiency/increased susceptibility to infections/recurrent infections
  • polynuclear cells/neutrophils anomalies/neutropenia
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • fever/chilling
  • chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis
  • gingivitis
  • chronic skin infection/ulcerations/ulcers/cancrum
  • eczema
  • liver/hepatic abscess
  • splenomegaly
  • meningitis/meningeal syndrome
  • sepsis severe/septicemia

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

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

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

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

63 (show all 11)
id Symbol AA change Variation 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

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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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...

Sources:
50PharmGKB, 4Cell Signaling Technology, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG, 52QIAGEN, 54Reactome
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Pathways related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba according to GeneCards/GeneDecks:

(show all 19)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4CYBA, NCF4
28.5NCF1, NCF2, NCF4
3
Hide members
8.2CYBB, CYBA, NCF2, NCF1
4
Immune response CCR3 signaling in eosinophils
Hide members
8.2NCF2, NCF1, CYBA, CYBB
58.2CYBB, NCF2, CYBA, NCF1
6
Cytoskeleton remodeling CDC42 in cellular processes
Hide members
8.2CYBB, NCF1, NCF2, CYBA
78.1NCF1, NCF4, NCF2, CYBA
8
Hide members
8.0CYBB, NCF1, NCF2, NCF4
9
Hide members
7.5CYBA, NCF1, NCF2, CYBB, NCF4
107.5NCF1, NCF2, NCF4, CYBA, CYBB
11
Hide members
7.5CYBA, CYBB, NCF4, NCF1, NCF2
12
Hide members
7.5NCF4, NCF2, NCF1, CYBB, CYBA
137.5NCF1, CYBB, CYBA, NCF4, NCF2
14
Inhibitory action of Lipoxins on Superoxide production in neutrophils
7.5CYBA, CYBB, NCF4, NCF2, NCF1
15
Hide members
7.5CYBB, CYBA, NCF4, NCF2, NCF1
167.5NCF4, CYBB, CYBA, NCF1, NCF2
177.5NCF1, NCF2, NCF4, CYBA, CYBB
187.5CYBB, NCF1, NCF2, NCF4, CYBA
19
Hide members
7.5NCF4, NCF1, NCF2, CYBA, CYBB

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

Sources:
45Novoseek, 11DrugBank, 24HMDB, 29IUPHAR, 60Tocris Bioscience
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Compounds related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba according to GeneCards/GeneDecks:

(show all 20)
idCompoundScoreTop Affiliating Genes
1peroxynitrite459.6CYBA, CYBB
2hocl459.5CYBA, NCF2
3n-formylmethionyl-leucylphenylalanine459.4CYBA, NCF2
4guanosine45 11 2411.3CYBB, NCF2
5phosphatidylinositol 3-phosphate459.3NCF4, NCF2
6heme29 11 2411.2CYBB, CYBA
7apocynin45 6010.0CYBB, CYBA, NCF2
8flavin459.0NCF2, CYBA, CYBB
9diphenyleneiodonium459.0CYBB, CYBA, NCF2
10fmlp458.9NCF2, NCF4
11nadh45 11 2410.9CYBB, CYBA, NCF2
12proline458.8NCF2, NCF4, CYBA
13h2o2458.7CYBB, CYBA, NCF2
14nitric oxide45 11 2410.7CYBB, CYBA, NCF2
15glucose458.7CYBB, CYBA, NCF2
16arachidonic acid45 29 11 2411.4NCF2, NCF4, CYBA, CYBB
17superoxide45 249.3CYBB, CYBA, NCF4, NCF2
18oligonucleotide458.3NCF2, NCF4, CYBA, CYBB
19oxygen45 249.3NCF2, NCF4, CYBA, CYBB
20nadph45 248.9CYBB, CYBA, NCF4, NCF2, NCF1

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

Sources:
16Gene Ontology
See all sources

Cellular components related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1phagocytic vesicle membraneGO:0306709.5CYBB, CYBA
2phagolysosomeGO:0320108.2NCF1, NCF2, NCF4
3NADPH oxidase complexGO:0430207.4CYBB, CYBA, NCF4, NCF2, NCF1

Biological processes related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cell communicationGO:0071549.3NCF4, NCF1
2hydrogen peroxide biosynthetic processGO:0506659.1NCF1, CYBA, CYBB
3oxidation-reduction processGO:0551148.9NCF4, CYBB, CYBA
4inflammatory responseGO:0069548.9CYBA, CYBB, NCF1
5cellular defense responseGO:0069688.8NCF1, NCF2
6respiratory burstGO:0457308.4CYBB, NCF2, NCF1, CYBA
7superoxide anion generationGO:0425548.4CYBB, NCF1, NCF2, CYBA
8superoxide metabolic processGO:0068018.3CYBB, CYBA, NCF2, NCF1
9innate immune responseGO:0450878.2CYBB, CYBA, NCF1, NCF2
10interaction with hostGO:0517017.8NCF4, CYBB, NCF2, NCF1, CYBA
11phagosome maturationGO:0903827.8NCF1, CYBB, CYBA, NCF4, NCF2
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024797.8CYBA, NCF1, NCF2, NCF4, CYBB
13antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425907.8CYBA, NCF4, NCF2, NCF1, CYBB
14antigen processing and presentation of peptide antigen via MHC class IGO:0024747.7CYBB, NCF1, NCF2, NCF4, CYBA

Molecular functions related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1SH3 domain bindingGO:0171249.4CYBA, NCF1
2phosphatidylinositol bindingGO:0350919.3NCF1, NCF4
3heme bindingGO:0200379.2CYBB, CYBA
4superoxide-generating NADPH oxidase activityGO:0161758.3CYBB, CYBA, NCF2, NCF1
5electron carrier activityGO:0090558.2CYBB, CYBA, NCF2, NCF1
6protein bindingGO:0055157.5NCF2, NCF4, CYBA, CYBB, NCF1

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet