MCID: CHR340
MIFTS: 29

Chronic Granulomatous Disease, X-Linked malady

Genetic diseases (common) category

Summaries for Chronic Granulomatous Disease, X-Linked

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OMIM:45 Chronic granulomatous disease is a genetically heterogeneous immunodeficiency disorder resulting from an inability of... (306400) more...

MalaCards based summary: Chronic Granulomatous Disease, X-Linked, also known as granulomatous disease, chronic, x-linked, is related to chronic granulomatous disease and lupus erythematosus, and has symptoms including eczematoid dermatitis, hepatic abscesses due to immunodeficiency and x-linked recessive inheritance. An important gene associated with Chronic Granulomatous Disease, X-Linked is CYBB (cytochrome b-245, beta polypeptide). Affiliated tissues include neutrophil, skin and testes.

Aliases & Classifications for Chronic Granulomatous Disease, X-Linked

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Chronic Granulomatous Disease, X-Linked, Aliases & Descriptions:

Name: Chronic Granulomatous Disease, X-Linked 45 10
Granulomatous Disease, Chronic, X-Linked 45 20 60
 
X-Linked Chronic Granulomatous Disease 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 306400

Related Diseases for Chronic Granulomatous Disease, X-Linked

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Diseases related to Chronic Granulomatous Disease, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1chronic granulomatous disease10.7
2lupus erythematosus10.7
3discoid lupus erythematosus10.7
4hematopoietic stem cell transplantation10.4
5hepatitis10.4
6osteomyelitis10.4
7hemophagocytic lymphohistiocytosis10.3
8thrombocytopenia10.3
9nocardiosis10.3
10glucose-6-phosphate dehydrogenase deficiency10.3
11pneumonia10.3
12stomatitis10.3
13tuberculosis10.3
14lupus erythematosus tumidus10.3

Graphical network of diseases related to Chronic Granulomatous Disease, X-Linked:



Diseases related to chronic granulomatous disease, x-linked

Symptoms for Chronic Granulomatous Disease, X-Linked

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Symptoms by clinical synopsis from OMIM:

306400

Clinical features from OMIM:

306400

HPO human phenotypes related to Chronic Granulomatous Disease, X-Linked:

(show all 25)
id Description Frequency HPO Source Accession
1 eczematoid dermatitis HP:0000976
2 hepatic abscesses due to immunodeficiency HP:0001400
3 x-linked recessive inheritance HP:0001419
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, X-Linked

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Drug clinical trials:

Search ClinicalTrials for Chronic Granulomatous Disease, X-Linked

Search NIH Clinical Center for Chronic Granulomatous Disease, X-Linked

Genetic Tests for Chronic Granulomatous Disease, X-Linked

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Genetic tests related to Chronic Granulomatous Disease, X-Linked:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, X-Linked20 22 CYBB

Anatomical Context for Chronic Granulomatous Disease, X-Linked

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MalaCards organs/tissues related to Chronic Granulomatous Disease, X-Linked:

31
Neutrophil, Skin, Testes

Animal Models for Chronic Granulomatous Disease, X-Linked or affiliated genes

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Publications for Chronic Granulomatous Disease, X-Linked

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Variations for Chronic Granulomatous Disease, X-Linked

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UniProtKB/Swiss-Prot genetic disease variations for Chronic Granulomatous Disease, X-Linked:

62 (show all 62)
id Symbol AA change Variation ID SNP ID
1CYBBp.His101ArgVAR_002432rs137854591
2CYBBp.Ala156ThrVAR_002433rs137854590
3CYBBp.His209TyrVAR_002434rs137854587
4CYBBp.Glu225ValVAR_002435rs151344494
5CYBBp.Cys244SerVAR_002436rs137854589
6CYBBp.Cys244TyrVAR_002437rs137854589
7CYBBp.Pro339HisVAR_002438rs151344470
8CYBBp.Gly389AlaVAR_002439rs137854586
9CYBBp.Pro415HisVAR_002440rs137854585
10CYBBp.Asp500GlyVAR_002441rs137854593
11CYBBp.Gly20ArgVAR_007873rs151344455
12CYBBp.Arg54SerVAR_007874rs151344456
13CYBBp.Cys59ArgVAR_007875rs151344457
14CYBBp.His101TyrVAR_007876rs137854594
15CYBBp.His119ArgVAR_007877rs151344458
16CYBBp.His209GlnVAR_007878rs151344459
17CYBBp.His222AsnVAR_007880rs151344460
18CYBBp.His222ArgVAR_007881rs151344462
19CYBBp.His222TyrVAR_007882rs151344460
20CYBBp.Gly223LeuVAR_007883rs151344463
21CYBBp.Cys244ArgVAR_007884rs151344465
22CYBBp.Glu309LysVAR_007885rs151344466
23CYBBp.Gly322GluVAR_007886rs151344467
24CYBBp.Ile325PheVAR_007887rs151344468
25CYBBp.Ser333ProVAR_007888rs151344469
26CYBBp.Arg356ProVAR_007889rs151344471
27CYBBp.Met405ArgVAR_007890rs151344472
28CYBBp.Gly408GluVAR_007891rs151344474
29CYBBp.Gly408ArgVAR_007892rs151344473
30CYBBp.Pro415LeuVAR_007893rs137854585
31CYBBp.Ser422ProVAR_007894rs151344475
32CYBBp.Trp453ArgVAR_007895rs151344476
33CYBBp.Trp516CysVAR_007896rs151344477
34CYBBp.Val534AspVAR_007897rs151344478
35CYBBp.Cys537ArgVAR_007898rs151344454
36CYBBp.Ala57GluVAR_008845rs151344481
37CYBBp.His303AsnVAR_016880rs137854595
38CYBBp.Pro304ArgVAR_016881rs137854596
39CYBBp.Tyr41AspVAR_025613rs151344453
40CYBBp.Arg54MetVAR_025614rs151344479
41CYBBp.Ala55AspVAR_025615rs151344480
42CYBBp.His209ArgVAR_025616rs151344482
43CYBBp.Ala224GlyVAR_025617rs151344483
44CYBBp.His338TyrVAR_025618rs151344484
45CYBBp.Ser344PheVAR_025619rs151344485
46CYBBp.Gly389GluVAR_025621rs137854586
47CYBBp.Leu420ProVAR_025622rs151344486
48CYBBp.Trp516ArgVAR_025623rs151344487
49CYBBp.Trp18CysVAR_047264
50CYBBp.Cys59TrpVAR_047266rs151344488
51CYBBp.Gly179ArgVAR_047267rs151344491
52CYBBp.Ser193PheVAR_047268rs151344493
53CYBBp.Phe205IleVAR_047269rs151344496
54CYBBp.Thr307ProVAR_047271rs151344489
55CYBBp.Leu342GlnVAR_047273rs151344495
56CYBBp.Leu505ArgVAR_047275rs151344490
57CYBBp.Leu546ProVAR_047276rs151344492
58CYBBp.Ala488AspVAR_068012
59CYBBp.Asp500GluVAR_068013
60CYBBp.Lys299AsnVAR_071861
61CYBBp.His338AspVAR_071862
62CYBBp.Gly412GluVAR_071863

Clinvar genetic disease variations for Chronic Granulomatous Disease, X-Linked:

6 (show all 19)
id Gene Variation Type Significance SNP ID Assembly Location
1CYBBNM_000397.3(CYBB): c.625C> T (p.His209Tyr)single nucleotide variantPathogenicrs137854587GRCh37Chr X, 37655345: 37655345
2CYBBNM_000397.3(CYBB): c.217C> T (p.Arg73Ter)single nucleotide variantPathogenicrs137854588GRCh37Chr X, 37642818: 37642818
3CYBBNM_000397.3(CYBB): c.911C> G (p.Pro304Arg)single nucleotide variantPathogenicrs137854596GRCh37Chr X, 37663143: 37663143
4CYBBCYBB, EX12DELdeletionPathogenic
5CYBBNM_000397.3(CYBB): c.676C> T (p.Arg226Ter)single nucleotide variantPathogenicrs137854592GRCh37Chr X, 37658209: 37658209
6CYBBCYBB, IVS3, G-A, +5single nucleotide variantPathogenic
7CYBBNM_000397.3(CYBB): c.1499A> G (p.Asp500Gly)single nucleotide variantPathogenicrs137854593GRCh37Chr X, 37668857: 37668857
8CYBBNM_000397.3(CYBB): c.252G> A (p.Ala84=)single nucleotide variantPathogenicrs387906485GRCh37Chr X, 37642853: 37642853
9CYBBCYBB, IN5, L1 INSinsertionPathogenic
10CYBBCYBB, 252G-Asingle nucleotide variantPathogenic
11CYBBCYBB, IVS5, G-T, +978single nucleotide variantPathogenic
12CYBBCYBB, EX4, L1 INSinsertionPathogenic
13CYBBCYBB, IVS1, T-C, +6single nucleotide variantPathogenic
14CYBBNM_000397.3(CYBB): c.90_92delCCGinsGGT (p.Tyr30Ter)indelPathogenicrs387906486GRCh37Chr X, 37641385: 37641387
15CYBBNM_000397.3(CYBB): c.1140dupG (p.Lys381Glufs)duplicationLikely pathogenicrs193922445GRCh37Chr X, 37663372: 37663373
16CYBBNM_000397.3(CYBB): c.15delT (p.Val6Terfs)deletionLikely pathogenicrs193922446GRCh37Chr X, 37639345: 37639345
17CYBBNM_000397.3(CYBB): c.1601T> A (p.Val534Asp)single nucleotide variantLikely pathogenicrs151344478GRCh37Chr X, 37670058: 37670058
18CYBBNM_000397.3(CYBB): c.389G> C (p.Arg130Pro)single nucleotide variantLikely pathogenicrs193922448GRCh37Chr X, 37652969: 37652969
19CYBBNM_000397.3(CYBB): c.607G> T (p.Glu203Ter)single nucleotide variantLikely pathogenicrs193922449GRCh37Chr X, 37655327: 37655327

Expression for genes affiliated with Chronic Granulomatous Disease, X-Linked

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Search GEO for disease gene expression data for Chronic Granulomatous Disease, X-Linked.

Pathways for genes affiliated with Chronic Granulomatous Disease, X-Linked

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Compounds for genes affiliated with Chronic Granulomatous Disease, X-Linked

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GO Terms for genes affiliated with Chronic Granulomatous Disease, X-Linked

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Products for genes affiliated with Chronic Granulomatous Disease, X-Linked

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Chronic Granulomatous Disease, X-Linked

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet