CGD2
MCID: CHR405
MIFTS: 28

Chronic Granulomatous Disease Due to Deficiency of Ncf-2 (CGD2) 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 52 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 70 27
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii 24
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 70
Deficiency of Neutrophil Cytosol Factor 2 70
 
Avellino Corneal Dystrophy 68
P67-Phox Deficiency 70
Ncf2 Deficiency 70
Cgd2 70

Characteristics:

HPO:

64
chronic granulomatous disease due to deficiency of ncf-2:
Inheritance: autosomal recessive inheritance
Onset and clinical course: juvenile onset

Classifications:



External Ids:

OMIM52 233710
MedGen37 C1856245
MeSH39 D006105

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

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UniProtKB/Swiss-Prot:70 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 glare - eye symptom, eczematoid dermatitis and hepatic abscesses due to immunodeficiency. 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, and related mouse phenotype Increased G1 DNA content.

Description from OMIM:52 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 type11.0
2chronic granulomatous disease10.1
3periodontitis, aggressive, 29.8NCF2, TGFBI
4osteomyelitis9.8

Symptoms & Phenotypes 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

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

 64 (show all 22)
id Description HPO Frequency HPO Source Accession
1 eczematoid dermatitis64 HP:0000976
2 hepatic abscesses due to immunodeficiency64 HP:0001400
3 splenomegaly64 HP:0001744
4 hepatomegaly64 HP:0002240
5 lymphadenopathy64 HP:0002716
6 absence of bactericidal oxidative 'respiratory burst' in phagocytes64 HP:0002723
7 recurrent aspergillus infections64 HP:0002724
8 recurrent staphylococcus aureus infections64 HP:0002726
9 recurrent e. coli infections64 HP:0002740
10 recurrent serratia marcescens infections64 HP:0002741
11 recurrent klebsiella infections64 HP:0002742
12 osteomyelitis due to immunodeficiency64 HP:0002755
13 lymphadenitis64 HP:0002840
14 recurrent burkholderia cepacia infections64 HP:0002842
15 granulomatosis64 HP:0002955
16 negative nitroblue tetrazolium reduction test64 HP:0003203
17 decreased activity of nadph oxidase64 HP:0003206
18 cellulitis due to immunodeficiency64 HP:0003553
19 rectal abscess64 HP:0005224
20 recurrent bacterial skin infections64 HP:0005406
21 recurrent pneumonia64 HP:0006532
22 discoid lupus rash64 HP:0007417

UMLS symptoms related to Chronic Granulomatous Disease Due to Deficiency of Ncf-2:


glare - eye symptom

GenomeRNAi Phenotypes related to Chronic Granulomatous Disease Due to Deficiency of Ncf-2 according to GeneCards Suite gene sharing:

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00098-A-19.1NCF2, TGFBI

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 Chronic Granulomatous Disease.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 227
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii24 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:

36
Neutrophil, Testes, Skin, Eye

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:

70 (show all 14)
id Symbol AA change Variation ID SNP ID
1NCF2p.Gly78GluVAR_008904rs137854519
2NCF2p.Arg77GlnVAR_017388rs119103275
3NCF2p.Ala128ValVAR_017389rs119103274
4NCF2p.Asn42SerVAR_065002rs137854514
5NCF2p.Gly44CysVAR_065003rs137854510
6NCF2p.Gly44ArgVAR_065004rs137854510
7NCF2p.Asp93GluVAR_065007rs137854507
8NCF2p.Arg102ProVAR_065009rs137854515
9NCF2p.Asp108ValVAR_065010rs137854509
10NCF2p.Trp137ArgVAR_065011rs137854516
11NCF2p.Ala140AspVAR_065012rs137854520
12NCF2p.Gln169GluVAR_065013rs137854517
13NCF2p.Arg184ProVAR_065014rs137854518
14NCF2p.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)SNVPathogenicrs755796920GRCh37Chr 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)SNVPathogenicrs374402066GRCh37Chr 1, 183546796: 183546796
4NCF2NM_ 000433.3(NCF2): c.1171_ 1175delAAGCT (p.Lys391Glufs)deletionPathogenicrs796065031GRCh37Chr 1, 183532572: 183532576
5NCF2NM_ 000433.3(NCF2): c.366+1G> ASNVPathogenicrs796065032GRCh37Chr 1, 183546733: 183546733
6NCF2NM_ 000433.3(NCF2): c.298C> T (p.Gln100Ter)SNVPathogenicrs119103276GRCh37Chr 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)SNVPathogenicrs119103274GRCh37Chr 1, 183543740: 183543740
9NCF2NM_ 000433.3(NCF2): c.230G> A (p.Arg77Gln)SNVPathogenicrs119103275GRCh37Chr 1, 183556057: 183556057

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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet