MCID: CHR405
MIFTS: 10

Chronic Granulomatous Disease Due to Deficiency of Ncf-2 malady

Genetic diseases (common) category
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Summaries for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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MalaCards based summary: Chronic Granulomatous Disease Due to Deficiency of Ncf-2 and has symptoms including An important gene associated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2 is NCF2 (neutrophil cytosolic factor 2).

Description from OMIM:46 233710

Aliases & Classifications for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Chronic Granulomatous Disease Due to Deficiency of Ncf-2, Aliases & Descriptions:

Name: Chronic Granulomatous Disease Due to Deficiency of Ncf-2 46


Classifications:

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


Related Diseases for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Symptoms for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Symptoms by clinical synopsis from OMIM:

233710

Clinical features from OMIM:

233710

HPO human phenotypes related to Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

(show all 25)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 eczematoid dermatitis HP:0000976
3 hepatic abscesses due to immunodeficiency HP:0001400
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 cellulitis due to immunodeficiency HP:0003553
20 juvenile onset HP:0003621
21 rectal abscess HP:0005224
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 Due to Deficiency of Ncf-2

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Drug clinical trials:

Search ClinicalTrials for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Search NIH Clinical Center for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

Genetic Tests for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Anatomical Context for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Animal Models for Chronic Granulomatous Disease Due to Deficiency of Ncf-2 or affiliated genes

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Publications for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Variations for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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UniProtKB/Swiss-Prot genetic disease variations for Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

64 (show all 15)
id Symbol AA change Variation ID SNP ID
1NCF2p.Gly78GluVAR_008904rs137854519
2NCF2p.Arg77GlnVAR_017388rs119103275
3NCF2p.Ala128ValVAR_017389rs119103274
4NCF2p.Asn419IleVAR_052621rs35012521
5NCF2p.Asn42SerVAR_065002rs137854514
6NCF2p.Gly44CysVAR_065003rs137854510
7NCF2p.Gly44ArgVAR_065004rs137854510
8NCF2p.Asp93GluVAR_065007rs137854507
9NCF2p.Arg102ProVAR_065009rs137854515
10NCF2p.Asp108ValVAR_065010rs137854509
11NCF2p.Trp137ArgVAR_065011rs137854516
12NCF2p.Ala140AspVAR_065012rs137854520
13NCF2p.Gln169GluVAR_065013rs137854517
14NCF2p.Arg184ProVAR_065014rs137854518
15NCF2p.Ala202ValVAR_065016rs137854508

Clinvar genetic disease variations for Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

6
id Gene Name Type Significance SNP ID Assembly Location
1NCF2NCF2, 2-BP INS, 399AGinsertionPathogenic
2NCF2NM_000433.3(NCF2): c.479A> T (p.Asp160Val)single nucleotide variantPathogenicrs267606912GRCh37Chr 1, 183543644: 183543644
3NCF2NCF2, 304C-Tsingle nucleotide variantPathogenic
4NCF2NCF2, 5-BP DEL, NT1169deletionPathogenic
5NCF2NCF2, IVS4DS, G-A, +1single nucleotide variantPathogenic
6NCF2NM_000433.3(NCF2): c.298C> T (p.Gln100Ter)single nucleotide variantPathogenicrs119103276GRCh37Chr 1, 183546802: 183546802
7NCF2NCF2, 9-BP DEL, NT55deletionPathogenic
8NCF2NM_000433.3(NCF2): c.383C> T (p.Ala128Val)single nucleotide variantPathogenicrs119103274GRCh37Chr 1, 183543740: 183543740
9NCF2NM_000433.3(NCF2): c.230G> A (p.Arg77Gln)single nucleotide variantPathogenicrs119103275GRCh37Chr 1, 183556057: 183556057
10NCF2NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp)single nucleotide variantPathogenicrs13306575GRCh37Chr 1, 183532437: 183532437

Expression for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Expression patterns in normal tissues for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Pathways for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Compounds for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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GO Terms for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Products for genes affiliated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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  • Antibodies
  • Proteins
  • Lysates

Sources for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet