MCID: CHR405
MIFTS: 25

Chronic Granulomatous Disease Due to Deficiency of Ncf-2 malady

Category: Genetic diseases (common)

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

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

Name: Chronic Granulomatous Disease Due to Deficiency of Ncf-2 50 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 68 25
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii 23
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 68
 
Deficiency of Neutrophil Cytosol Factor 2 68
P67-Phox Deficiency 68
Ncf2 Deficiency 68
Cgd2 68

Characteristics:

HPO:

62
chronic granulomatous disease due to deficiency of ncf-2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset


Classifications:



External Ids:

OMIM50 233710
MedGen35 C1856245
MeSH37 D006105

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

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UniProtKB/Swiss-Prot:68 Granulomatous disease, chronic, cytochrome-b-positive 2, 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.

MalaCards based summary: Chronic Granulomatous Disease Due to Deficiency of Ncf-2, also known as chronic granulomatous disease autosomal recessive cytochrome b-positive type ii, is related to corneal dystrophy, avellino type and chronic granulomatous disease, and has symptoms including eczematoid dermatitis, hepatic abscesses due to immunodeficiency and splenomegaly. An important gene associated with Chronic Granulomatous Disease Due to Deficiency of Ncf-2 is NCF2 (Neutrophil Cytosolic Factor 2). Affiliated tissues include neutrophil, testes and skin.

Description from OMIM:50 233710

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

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Diseases related to Chronic Granulomatous Disease Due to Deficiency of Ncf-2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1corneal dystrophy, avellino type11.1
2chronic granulomatous disease10.2
3osteomyelitis9.9

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 22)
id Description Frequency HPO Source Accession
1 eczematoid dermatitis HP:0000976
2 hepatic abscesses due to immunodeficiency HP:0001400
3 splenomegaly HP:0001744
4 hepatomegaly HP:0002240
5 lymphadenopathy HP:0002716
6 absence of bactericidal oxidative 'respiratory burst' in phagocytes HP:0002723
7 recurrent aspergillus infections HP:0002724
8 recurrent staphylococcus aureus infections HP:0002726
9 recurrent e. coli infections HP:0002740
10 recurrent serratia marcescens infections HP:0002741
11 recurrent klebsiella infections HP:0002742
12 osteomyelitis due to immunodeficiency HP:0002755
13 lymphadenitis HP:0002840
14 recurrent burkholderia cepacia infections HP:0002842
15 granulomatosis HP:0002955
16 negative nitroblue tetrazolium reduction test HP:0003203
17 decreased activity of nadph oxidase HP:0003206
18 cellulitis due to immunodeficiency HP:0003553
19 rectal abscess HP:0005224
20 recurrent bacterial skin infections HP:0005406
21 recurrent pneumonia HP:0006532
22 discoid lupus erythematosus HP:0007417

Drugs & Therapeutics for Chronic Granulomatous Disease Due to Deficiency of Ncf-2

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Interventional clinical trials:

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

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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Genetic tests related to Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

id Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 225
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii23 NCF2

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

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MalaCards organs/tissues related to Chronic Granulomatous Disease Due to Deficiency of Ncf-2:

34
Neutrophil, Testes, Skin

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:

68 (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:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NCF2NM_000433.3(NCF2): c.565C> T (p.Gln189Ter)single nucleotide variantPathogenicrs755796920GRCh37Chr 1, 183542364: 183542364
2NCF2NM_000433.3(NCF2): c.399_400dupGA (p.Lys134Argfs)duplicationPathogenicrs796065030GRCh37Chr 1, 183543723: 183543724
3NCF2NM_000433.3(NCF2): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs374402066GRCh37Chr 1, 183546796: 183546796
4NCF2NM_000433.3(NCF2): c.1171_1175delAAGCT (p.Lys391Glufs)deletionPathogenicrs796065031GRCh37Chr 1, 183532572: 183532576
5NCF2NM_000433.3(NCF2): c.366+1G> Asingle nucleotide variantPathogenicrs796065032GRCh37Chr 1, 183546733: 183546733
6NCF2NM_000433.3(NCF2): c.298C> T (p.Gln100Ter)single nucleotide variantPathogenicrs119103276GRCh37Chr 1, 183546802: 183546802
7NCF2NM_000433.3(NCF2): c.55_63delAAGAAGGAC (p.Lys19_Asp21del)deletionPathogenicrs796065033GRCh37Chr 1, 183559402: 183559410
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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Search GEO for disease gene expression data for Chronic Granulomatous Disease Due to Deficiency of Ncf-2.

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet