MCID: CHR370
MIFTS: 47

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

Genetic diseases, Eye diseases, Respiratory diseases, Skin diseases, Blood diseases, Rare diseases categories
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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 aspergillosis, and has symptoms including x-linked recessive inheritance, chronic obstructive pulmonary disease/copd/obstructive respiratory syndrome 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 hocl and n-formylmethionyl-leucylphenylalanine have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and eye.

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

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

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47OMIM, 49Orphanet, 62UMLS, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:



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 62
chronic septic granulomatosis 49


External Ids:

SNOMED-CT via Orphanet59 191352003, 387759001
UMLS via Orphanet63 C0018203
MESH via Orphanet36 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 119)
idRelated DiseaseScoreTop Affiliating Genes
1chronic granulomatous disease32.0NCF2, NCF4, CYBA, CYBB
2aspergillosis10.7
3osteomyelitis10.7
4hepatitis10.6
5lupus erythematosus10.6
6discoid lupus erythematosus10.5
7invasive aspergillosis10.5
8hematopoietic stem cell transplantation10.5
9pneumonia10.4
10job's syndrome10.4
11mcleod syndrome10.4
12chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type iii10.4
13crohn's disease10.3
14chorioretinitis10.3
15lymphadenitis10.3
16nocardiosis10.3
17hemophagocytic lymphohistiocytosis10.3
18kawasaki disease10.3
19inflammatory bowel disease10.3
20keratitis10.3
21retinitis10.3
22tuberculosis10.3
23chronic granulomatous disease, autosomal recessive, cytochrome b-negative10.3
24chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type i10.3
25chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type ii10.3
26chronic granulomatous disease, x-linked10.3
27mcleod syndrome with or without chronic granulomatous disease10.3
28gastric outlet obstruction10.3
29chediak-higashi syndrome10.2
30acalculous cholecystitis10.2
31leukocyte adhesion deficiency10.2
32splenic abscess10.2
33retinitis pigmentosa10.2
34celiac disease10.2
35duchenne muscular dystrophy10.2
36visceral leishmaniasis10.2
37acne10.2
38cholecystitis10.2
39cystitis10.2
40esophagitis10.2
41hypertension10.2
42leishmaniasis10.2
43leukemia10.2
44meningitis10.2
45muscular dystrophy10.2
46sarcoidosis10.2
47thrombocytopenia10.2
48uveitis10.2
49williams syndrome10.2
50eosinophilic 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

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

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

233670

Clinical features from OMIM:

233670,233690,233700,233710,306400,613960

Symptoms:

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

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

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42NIH Clinical Center, 6ClinicalTrials
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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...

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

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33MalaCards
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MalaCards organs/tissues related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

33
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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Variations for Chronic Granulomatous Disease, Autosomal, Due to Deficiency of...

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64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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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:

1 (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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2BioGPS, 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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50PathCards, 51PharmGKB, 5Cell Signaling Technology, 60Thomson Reuters, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 53QIAGEN
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Pathways related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba according to GeneCards/GeneDecks:

(show all 16)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.2NCF4, CYBA
28.5NCF4, NCF2, NCF1
3
Show member pathways
8.4CYBB, CYBA, NCF1, NCF2
4
Show member pathways
RAC1 signaling pathway38
8.4CYBA, NCF1, NCF2, CYBB
5
Show member pathways
Cytoskeleton remodeling CDC42 in cellular processes60
8.4NCF2, NCF1, CYBA, CYBB
68.4CYBA, NCF1, NCF2, CYBB
7
Show member pathways
Proteasome Degradation38
Immune response Antigen presentation by MHC class I60
8.2NCF2, NCF4, CYBA, CYBB
8
Show member pathways
8.2NCF2, NCF4, CYBA, CYBB
98.2NCF4, CYBB, CYBA, NCF2
10
Show member pathways
8.1NCF2, NCF1, NCF4, CYBA
11
Show member pathways
8.0CYBB, NCF4, NCF1, NCF2
127.5NCF4, CYBA, CYBB, NCF2, NCF1
13
Show member pathways
7.5NCF2, CYBB, NCF1, CYBA, NCF4
147.5CYBB, CYBA, NCF1, NCF4, NCF2
157.5CYBB, CYBA, NCF4, NCF1, NCF2
16
Show member pathways
7.5NCF4, CYBB, NCF2, NCF1, CYBA

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

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Sources:
45Novoseek, 24HMDB, 11DrugBank, 29IUPHAR, 61Tocris Bioscience
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Compounds related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba according to GeneCards/GeneDecks:

(show all 23)
idCompoundScoreTop Affiliating Genes
1hocl459.8CYBA, NCF2
2n-formylmethionyl-leucylphenylalanine459.7CYBA, NCF2
3peroxynitrite459.7CYBA, CYBB
4guanosine45 24 1111.6CYBB, NCF2
5heme29 24 1111.5CYBA, CYBB
6butyrate459.4NCF2, CYBB
7phosphatidylinositol 3-phosphate459.4NCF2, NCF4
8apocynin45 6110.3CYBB, NCF2, CYBA
9flavin459.3CYBA, CYBB, NCF2
10diphenyleneiodonium459.3CYBA, CYBB, NCF2
11nadh45 24 1111.3CYBB, NCF2, CYBA
12fmlp459.2NCF2, NCF4
13h2o2459.2CYBA, CYBB, NCF2
14histidine459.2CYBA, CYBB
15nitric oxide45 24 1111.1NCF2, CYBA, CYBB
16glucose459.1CYBB, CYBA, NCF2
17phosphatidylserine45 29 1111.0CYBB, NCF4
18proline458.9CYBA, NCF2, NCF4
19arachidonic acid45 29 24 1111.5NCF4, CYBB, NCF2, CYBA
20superoxide45 249.5NCF2, NCF4, CYBA, CYBB
21oligonucleotide458.5NCF4, CYBA, CYBB, NCF2
22oxygen45 249.5NCF2, CYBB, CYBA, NCF4
23nadph45 248.9CYBB, NCF2, NCF1, NCF4, CYBA

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
1rough endoplasmic reticulumGO:0057919.2CYBB, NCF1
2phagocytic vesicle membraneGO:0306709.2CYBA, CYBB
3dendriteGO:0304258.9CYBB, CYBA, NCF1
4neuronal cell bodyGO:0430258.9NCF1, CYBA, CYBB
5Golgi apparatusGO:0057948.9NCF1, CYBA, CYBB
6phagolysosomeGO:0320108.6NCF2, NCF1, NCF4
7NADPH oxidase complexGO:0430207.7NCF2, NCF1, NCF4, CYBA, CYBB

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1cellular defense responseGO:0069689.3NCF2, NCF1
2hydrogen peroxide biosynthetic processGO:0506659.0NCF1, CYBB, CYBA
3response to drugGO:0424938.9CYBA, CYBB, NCF2
4respiratory burstGO:0457308.6NCF2, NCF1, CYBB, CYBA
5inflammatory responseGO:0069548.6CYBA, CYBB, NCF1
6superoxide anion generationGO:0425548.6NCF2, CYBA, CYBB, NCF1
7superoxide metabolic processGO:0068018.5NCF2, NCF1, CYBA, CYBB
8innate immune responseGO:0450878.4CYBB, CYBA, NCF1, NCF2
9oxidation-reduction processGO:0551148.1NCF4, CYBA, CYBB, NCF1
10interaction with hostGO:0517017.8NCF2, NCF4, CYBA, CYBB, NCF1
11phagosome maturationGO:0903827.8NCF2, CYBB, NCF1, NCF4, CYBA
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependentGO:0024797.8NCF4, CYBB, NCF2, NCF1, CYBA
13antigen processing and presentation of exogenous peptide antigen via MHC class IGO:0425907.8NCF4, NCF2, NCF1, CYBA, CYBB
14antigen processing and presentation of peptide antigen via MHC class IGO:0024747.7NCF2, NCF4, NCF1, CYBA, CYBB

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

idNameGO IDScoreTop Affiliating Genes
1heme bindingGO:0200379.5CYBA, CYBB
2SH3 domain bindingGO:0171249.1NCF1, CYBA
3superoxide-generating NADPH oxidase activityGO:0161758.9NCF1, CYBA, CYBB
4electron carrier activityGO:0090558.4NCF2, NCF1, CYBA, CYBB
5protein bindingGO:0055157.4CYBB, CYBA, NCF4, NCF1, NCF2

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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet