CGD2
MCID: CHR405
MIFTS: 28

Chronic Granulomatous Disease Due to Deficiency of Ncf-2 (CGD2) malady

Categories: Genetic diseases

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

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

Name: Chronic Granulomatous Disease Due to Deficiency of Ncf-2 54 13
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 66 29
Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii 24
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 66
Deficiency of Neutrophil Cytosol Factor 2 66
Avellino Corneal Dystrophy 69
P67-Phox Deficiency 66
Ncf2 Deficiency 66
Cgd2 66

Characteristics:

HPO:

32
chronic granulomatous disease due to deficiency of ncf-2:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



External Ids:

OMIM 54 233710
MedGen 40 C1856245
MeSH 42 D006105

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

UniProtKB/Swiss-Prot : 66 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 splenomegaly, hepatomegaly and recurrent pneumonia. 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 phenotype is Increased G1 DNA content.

Description from OMIM: 233710

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

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

id Related Disease Score Top Affiliating Genes
1 corneal dystrophy, avellino type 11.0
2 chronic granulomatous disease 10.1
3 periodontitis, aggressive, 2 9.8 NCF2 TGFBI
4 osteomyelitis 9.8

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

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:

32 (show all 22)
id Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 recurrent pneumonia 32 HP:0006532
4 lymphadenopathy 32 HP:0002716
5 recurrent bacterial skin infections 32 HP:0005406
6 granulomatosis 32 HP:0002955
7 recurrent aspergillus infections 32 HP:0002724
8 osteomyelitis due to immunodeficiency 32 HP:0002755
9 lymphadenitis 32 HP:0002840
10 rectal abscess 32 HP:0005224
11 eczematoid dermatitis 32 HP:0000976
12 recurrent staphylococcus aureus infections 32 HP:0002726
13 discoid lupus rash 32 HP:0007417
14 hepatic abscesses due to immunodeficiency 32 HP:0001400
15 absence of bactericidal oxidative 'respiratory burst' in phagocytes 32 HP:0002723
16 recurrent e. coli infections 32 HP:0002740
17 recurrent serratia marcescens infections 32 HP:0002741
18 recurrent klebsiella infections 32 HP:0002742
19 recurrent burkholderia cepacia infections 32 HP:0002842
20 negative nitroblue tetrazolium reduction test 32 HP:0003203
21 decreased activity of nadph oxidase 32 HP:0003206
22 cellulitis due to immunodeficiency 32 HP:0003553

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
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased G1 DNA content GR00098-A-1 8.62 NCF2 TGFBI

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

Interventional clinical trials:


id Name Status NCT ID Phase
1 Generation of Powerful Biological Tools for Understanding the Pathophysiology of Chronic Granulomatous Disease. Recruiting NCT02926963

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

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 2 29
2 Chronic Granulomatous Disease, Autosomal Recessive, Cytochrome B-Positive, Type Ii 24 NCF2

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

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

39
Neutrophil, Testes, Skin, Eye

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

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

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

66 (show all 14)
id Symbol AA change Variation ID SNP ID
1 NCF2 p.Gly78Glu VAR_008904 rs137854519
2 NCF2 p.Arg77Gln VAR_017388 rs119103275
3 NCF2 p.Ala128Val VAR_017389 rs119103274
4 NCF2 p.Asn42Ser VAR_065002 rs137854514
5 NCF2 p.Gly44Cys VAR_065003 rs137854510
6 NCF2 p.Gly44Arg VAR_065004 rs137854510
7 NCF2 p.Asp93Glu VAR_065007 rs137854507
8 NCF2 p.Arg102Pro VAR_065009 rs137854515
9 NCF2 p.Asp108Val VAR_065010 rs137854509
10 NCF2 p.Trp137Arg VAR_065011 rs137854516
11 NCF2 p.Ala140Asp VAR_065012 rs137854520
12 NCF2 p.Gln169Glu VAR_065013 rs137854517
13 NCF2 p.Arg184Pro VAR_065014 rs137854518
14 NCF2 p.Ala202Val VAR_065016 rs137854508

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 NCF2 NM_000433.3(NCF2): c.399_400dupGA (p.Lys134Argfs) duplication Pathogenic rs796065030 GRCh37 Chromosome 1, 183543723: 183543724
2 NCF2 NM_000433.3(NCF2): c.304C> T (p.Arg102Ter) single nucleotide variant Pathogenic rs374402066 GRCh37 Chromosome 1, 183546796: 183546796
3 NCF2 NM_000433.3(NCF2): c.1171_1175delAAGCT (p.Lys391Glufs) deletion Pathogenic rs796065031 GRCh37 Chromosome 1, 183532572: 183532576
4 NCF2 NM_000433.3(NCF2): c.366+1G> A single nucleotide variant Pathogenic rs796065032 GRCh37 Chromosome 1, 183546733: 183546733
5 NCF2 NM_000433.3(NCF2): c.298C> T (p.Gln100Ter) single nucleotide variant Pathogenic rs119103276 GRCh37 Chromosome 1, 183546802: 183546802
6 NCF2 NM_000433.3(NCF2): c.55_63delAAGAAGGAC (p.Lys19_Asp21del) deletion Pathogenic rs796065033 GRCh37 Chromosome 1, 183559402: 183559410
7 NCF2 NM_000433.3(NCF2): c.383C> T (p.Ala128Val) single nucleotide variant Pathogenic rs119103274 GRCh37 Chromosome 1, 183543740: 183543740
8 NCF2 NM_000433.3(NCF2): c.230G> A (p.Arg77Gln) single nucleotide variant Pathogenic rs119103275 GRCh37 Chromosome 1, 183556057: 183556057
9 NCF2 NM_000433.3(NCF2): c.565C> T (p.Gln189Ter) single nucleotide variant Pathogenic rs755796920 GRCh37 Chromosome 1, 183542364: 183542364

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

Search GEO for disease gene expression data for Chronic Granulomatous Disease Due to Deficiency of Ncf-2.

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

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

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....