MCID: CHR370
MIFTS: 50

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

Eye diseases, Respiratory diseases, Skin diseases, Blood diseases categories

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

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46OMIM, 32MalaCards
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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 x-linked disease, and has symptoms including x-linked recessive inheritance, fever/chilling and chronic uveitis/blepharitis/episcleritis/scleritis/conjonctivitis/keratitis. 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. Affiliated tissues include skin, liver and eye.

Description from OMIM:46 233670, 233690, 233700, 233710, 306400 613960 more

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

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48Orphanet, 46OMIM, 60UMLS, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
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 46
chronic granulomatous disease 48 46
granulomatous disease, chronic 60
chronic septic granulomatosis 48


External Ids:

SNOMED-CT via Orphanet57 191352003, 387759001
UMLS via Orphanet61 C0018203
MESH via Orphanet35 D006105
ICD10 via Orphanet26 D71

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

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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 135)
idRelated DiseaseScoreTop Affiliating Genes
1chronic granulomatous disease32.1NCF2, CYBB, CYBA, NCF4
2x-linked disease11.1
3autosomal recessive disease10.7
4aspergillosis10.7
5osteomyelitis10.7
6granulomatous hepatitis10.6
7hepatitis10.6
8lupus erythematosus10.6
9invasive aspergillosis10.6
10chromosomal disease10.5
11leukocyte disease10.5
12brain disease10.4
13liver disease10.4
14pneumonia10.4
15mcleod syndrome10.4
16job's syndrome10.4
17heavy chain disease10.4
18chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii10.4
19crohn's disease10.3
20hepatitis a10.3
21chorioretinitis10.3
22lymphadenitis10.3
23skin disease10.3
24hemophagocytic lymphohistiocytosis10.3
25nocardiosis10.3
26kawasaki disease10.3
27inflammatory bowel disease10.3
28keratitis10.3
29retinal disease10.3
30retinitis10.3
31splenic disease10.3
32tuberculosis10.3
33williams syndrome10.3
34chronic granulomatous disease, autosomal recessive, cytochrome b-negative10.3
35chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type i10.3
36chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type ii10.3
37chronic granulomatous disease, x-linked10.3
38mcleod syndrome with or without chronic granulomatous disease10.3
39acalculous cholecystitis10.2
40chediak-higashi syndrome10.2
41visceral leishmaniasis10.2
42leukocyte adhesion deficiency10.2
43retinitis pigmentosa10.2
44splenic abscess10.2
45celiac disease10.2
46duchenne muscular dystrophy10.2
47acne10.2
48autosomal genetic disease10.2
49cholecystitis10.2
50chronic cystitis10.2

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...

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46OMIM, 48Orphanet
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Clinical features from OMIM:

233670,233690,233700,233710,306400,613960

Clinical synopsis from OMIM:

233670

Symptoms:

48 (show all 25)
  • 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
  • autosomal recessive inheritance
  • polynuclear cells/neutrophils anomalies/neutropenia
  • 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
  • nasal congestion/sinusitis/rhinitis/rhinorrhea

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

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5CenterWatch, 41NIH 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...

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

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32MalaCards
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MalaCards organs/tissues related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

32
Skin, Liver, Eye

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

62 (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

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

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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...

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Sources:
49PharmGKB, 4Cell Signaling Technology, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG, 51QIAGEN, 53Reactome
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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
28.5NCF4, NCF2, NCF1
3
Immune response CCR3 signaling in eosinophils
Hide members
8.2CYBB, CYBA, NCF2, NCF1
4
Hide members
8.2CYBB, CYBA, NCF2, NCF1
5
Cytoskeleton remodeling CDC42 in cellular processes
Hide members
8.2CYBB, CYBA, NCF2, NCF1
68.2CYBB, CYBA, NCF2, NCF1
78.1CYBA, NCF4, NCF2, NCF1
8
Hide members
8.0NCF1, NCF2, NCF4, CYBB
9
Hide members
7.5NCF1, NCF2, NCF4, CYBA, CYBB
107.5NCF1, NCF2, NCF4, CYBA, CYBB
11
Hide members
7.5NCF1, NCF2, NCF4, CYBA, CYBB
12
Hide members
7.5NCF1, NCF2, NCF4, CYBA, CYBB
137.5NCF1, NCF2, NCF4, CYBA, CYBB
14
Inhibitory action of Lipoxins on Superoxide production in neutrophils
7.5NCF1, NCF2, NCF4, CYBA, CYBB
15
Hide members
7.5CYBB, CYBA, NCF4, NCF2, NCF1
167.5NCF1, NCF2, NCF4, CYBA, CYBB
17
Hide members
7.5NCF1, NCF2, NCF4, CYBA, CYBB
187.5NCF1, NCF2, NCF4, CYBA, CYBB
197.5CYBB, CYBA, NCF4, NCF2, NCF1

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

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Sources:
44Novoseek, 11DrugBank, 24HMDB, 28IUPHAR, 59Tocris 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
1peroxynitrite449.6CYBA, CYBB
2hocl449.5CYBA, NCF2
3n-formylmethionyl-leucylphenylalanine449.4CYBA, NCF2
4guanosine44 11 2411.3CYBB, NCF2
5phosphatidylinositol 3-phosphate449.3NCF4, NCF2
6heme28 11 2411.2CYBB, CYBA
7apocynin44 5910.0CYBB, CYBA, NCF2
8flavin449.0NCF2, CYBA, CYBB
9diphenyleneiodonium449.0CYBB, CYBA, NCF2
10fmlp448.9NCF2, NCF4
11nadh44 11 2410.9CYBB, CYBA, NCF2
12proline448.8NCF2, NCF4, CYBA
13h2o2448.7CYBB, CYBA, NCF2
14nitric oxide44 11 2410.7CYBB, CYBA, NCF2
15glucose448.7CYBB, CYBA, NCF2
16arachidonic acid44 28 11 2411.4NCF2, NCF4, CYBA, CYBB
17superoxide44 249.3CYBB, CYBA, NCF4, NCF2
18oligonucleotide448.3NCF2, NCF4, CYBA, CYBB
19oxygen44 249.3NCF2, NCF4, CYBA, CYBB
20nadph44 248.9CYBB, CYBA, NCF4, NCF2, NCF1

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

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16Gene Ontology
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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:0506659.1CYBB, CYBA, NCF1
3oxidation-reduction processGO:0551148.9NCF4, CYBA, CYBB
4inflammatory responseGO:0069548.9NCF1, CYBA, CYBB
5cellular defense responseGO:0069688.8NCF2, NCF1
6respiratory burstGO:0457308.4NCF1, NCF2, CYBA, CYBB
7superoxide anion generationGO:0425548.4NCF1, NCF2, CYBA, CYBB
8superoxide metabolic processGO:0068018.3NCF1, NCF2, CYBA, CYBB
9innate immune responseGO:0450878.2CYBB, CYBA, NCF2, NCF1
10interaction with hostGO:0517017.8CYBB, CYBA, NCF4, NCF2, NCF1
11phagosome maturationGO:0903827.8NCF1, NCF2, NCF4, CYBA, CYBB
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024797.8CYBB, CYBA, NCF4, NCF2, NCF1
13antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425907.8NCF1, NCF2, NCF4, CYBA, CYBB
14antigen processing and presentation of peptide antigen via MHC class IGO:0024747.7CYBB, CYBA, NCF4, NCF2, NCF1

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...

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet