MCID: CHR405
MIFTS: 28

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 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 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, 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
3osteomyelitis9.8

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 erythematosus64 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 (show all 11)
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
10NCF2NM_000433.3(NCF2): c.1183C> T (p.Arg395Trp)SNVPathogenicrs13306575GRCh37Chr 1, 183532437: 183532437
11TGFBINM_000358.2(TGFBI): c.371G> A (p.Arg124His)SNVPathogenicrs121909211GRCh37Chr 5, 135382096: 135382096

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