MCID: CHR370
MIFTS: 24

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

Category: Genetic diseases (common)

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

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

Name: Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba 51 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Negative 69 26
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative 67
Granulomatous Disease, Chronic, Cytochrome-B-Negative, Autosomal Recessive 69
 
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative 24
Cgd Due to Deficiency of Alpha Subunit of Cytochrome B 69
Cyba Deficiency 69
Arcgd 69

Characteristics:

HPO:

63
chronic granulomatous disease, autosomal, due to deficiency of cyba:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM51 233690
MedGen36 C1856255
MeSH38 D006105

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

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OMIM:51 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, is also known as chronic granulomatous disease autosomal recessive cytochrome b-negative, and has symptoms including eczematoid dermatitis, hepatic abscesses due to immunodeficiency and splenomegaly. An important gene associated with Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba is CYBA (Cytochrome B-245 Alpha Chain). Affiliated tissues include neutrophil, testes and skin.

UniProtKB/Swiss-Prot:69 Granulomatous disease, chronic, cytochrome-b-negative, autosomal recessive: A disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

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

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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

Human phenotypes related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

 63 (show all 23)
id Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis63 HP:0000976
2 hepatic abscesses due to immunodeficiency63 HP:0001400
3 splenomegaly63 HP:0001744
4 hepatomegaly63 HP:0002240
5 lymphadenopathy63 HP:0002716
6 absence of bactericidal oxidative 'respiratory burst' in phagocytes63 HP:0002723
7 recurrent aspergillus infections63 HP:0002724
8 recurrent staphylococcus aureus infections63 HP:0002726
9 recurrent e. coli infections63 HP:0002740
10 recurrent serratia marcescens infections63 HP:0002741
11 recurrent klebsiella infections63 HP:0002742
12 osteomyelitis due to immunodeficiency63 HP:0002755
13 lymphadenitis63 HP:0002840
14 recurrent burkholderia cepacia infections63 HP:0002842
15 granulomatosis63 HP:0002955
16 negative nitroblue tetrazolium reduction test63 HP:0003203
17 decreased activity of nadph oxidase63 HP:0003206
18 deficiency or absence of cytochrome b(-245)63 HP:0003514
19 cellulitis due to immunodeficiency63 HP:0003553
20 rectal abscess63 HP:0005224
21 recurrent bacterial skin infections63 HP:0005406
22 recurrent pneumonia63 HP:0006532
23 discoid lupus erythematosus63 HP:0007417

UMLS symptoms related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:


hepatomegaly

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease.RecruitingNCT02926963

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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Genetic tests related to Chronic Granulomatous Disease, Autosomal, Due to Deficiency of Cyba:

id Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative26
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Negative24 CYBA

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

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

35
Neutrophil, Testes, Skin

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

69 (show all 12)
id Symbol AA change Variation ID SNP ID
1CYBAp.Arg90GlnVAR_005123rs104894513
2CYBAp.His94ArgVAR_005124rs104894510
3CYBAp.Ser118ArgVAR_005125rs104894514
4CYBAp.Pro156GlnVAR_005126rs104894515
5CYBAp.Gly24ArgVAR_012755rs28941476
6CYBAp.Gly25ValVAR_060576rs179363891
7CYBAp.Leu52ProVAR_060577rs179363890
8CYBAp.Glu53ValVAR_060578rs179363893
9CYBAp.Arg90TrpVAR_060579rs179363892
10CYBAp.Ala124ValVAR_060580rs179363894
11CYBAp.Ala125ThrVAR_060581rs119103269
12CYBAp.Gly25AspVAR_071860

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

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1CYBAnsv513777deletionPathogenicChr na, -1: -1
2CYBACYBA, 1-BP DEL, 272CdeletionPathogenicChr na, -1: -1
3CYBANM_000101.3(CYBA): c.269G> A (p.Arg90Gln)SNVPathogenicrs104894513GRCh37Chr 16, 88713181: 88713181
4CYBANM_000101.3(CYBA): c.354C> A (p.Ser118Arg)SNVPathogenicrs104894514GRCh37Chr 16, 88712539: 88712539
5CYBANM_000101.3(CYBA): c.467C> A (p.Pro156Gln)SNVPathogenicrs104894515GRCh37Chr 16, 88709882: 88709882
6CYBANM_000101.3(CYBA): c.281A> G (p.His94Arg)SNVPathogenicrs104894510GRCh37Chr 16, 88713169: 88713169
7CYBACYBA, IVS4DS, G-A, +1SNVPathogenicChr na, -1: -1
8CYBANM_000101.3(CYBA): c.7C> T (p.Gln3Ter)SNVPathogenicrs104894511GRCh37Chr 16, 88717415: 88717415
9CYBANM_000101.3(CYBA): c.70G> A (p.Gly24Arg)SNVPathogenicrs28941476GRCh37Chr 16, 88714511: 88714511
10CYBACYBA, 36-BP DELdeletionPathogenicChr na, -1: -1
11CYBANM_000101.3(CYBA): c.373G> A (p.Ala125Thr)SNVPathogenicrs119103269GRCh37Chr 16, 88709976: 88709976

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

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

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet