MCID: CHR405
MIFTS: 26

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 49 11
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 67 24
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii 22
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 67
Deficiency of Neutrophil Cytosol Factor 2 67
 
Avellino Corneal Dystrophy 65
P67-Phox Deficiency 67
Ncf2 Deficiency 67
Cgd2 67

Characteristics:

HPO:

61
chronic granulomatous disease due to deficiency of ncf-2:
Onset and clinical course: juvenile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 233710
MedGen34 C1856245
MeSH36 D006105

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

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UniProtKB/Swiss-Prot:67 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 hypoxia, and has symptoms including discoid lupus erythematosus, recurrent pneumonia and recurrent bacterial skin infections. 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:49 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 type11.5
2hypoxia10.2
3endotheliitis10.2

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

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

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Interventional clinical trials:

Search ClinicalTrials, 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 Ii22 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:

33
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:

67 (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 (show all 11)
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.479A> T (p.Asp160Val)single nucleotide variantPathogenicrs267606912GRCh37Chr 1, 183543644: 183543644
4NCF2NM_000433.3(NCF2): c.304C> T (p.Arg102Ter)single nucleotide variantPathogenicrs374402066GRCh37Chr 1, 183546796: 183546796
5NCF2NM_000433.3(NCF2): c.1171_1175delAAGCT (p.Lys391Glufs)deletionPathogenicrs796065031GRCh37Chr 1, 183532572: 183532576
6NCF2NM_000433.3(NCF2): c.366+1G> Asingle nucleotide variantPathogenicrs796065032GRCh37Chr 1, 183546733: 183546733
7NCF2NM_000433.3(NCF2): c.298C> T (p.Gln100Ter)single nucleotide variantPathogenicrs119103276GRCh37Chr 1, 183546802: 183546802
8NCF2NM_000433.3(NCF2): c.55_63delAAGAAGGAC (p.Lys19_Asp21del)deletionPathogenicrs796065033GRCh37Chr 1, 183559402: 183559410
9NCF2NM_000433.3(NCF2): c.383C> T (p.Ala128Val)single nucleotide variantPathogenicrs119103274GRCh37Chr 1, 183543740: 183543740
10NCF2NM_000433.3(NCF2): c.230G> A (p.Arg77Gln)single nucleotide variantPathogenicrs119103275GRCh37Chr 1, 183556057: 183556057
11NCF2NM_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
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet