CGD2
MCID: GRN063
MIFTS: 40

Granulomatous Disease, Chronic, Autosomal Recessive, 2 (CGD2)

Categories: Blood diseases, Bone diseases, Eye diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, 2

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 2:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, 2 57
Chronic Granulomatous Disease Due to Deficiency of Ncf-2 12 29 13
Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 2 29 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Ii 12 15
P67-Phox Deficiency 57 72
Ncf2 Deficiency 57 72
Cgd2 57 72
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 57
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 72
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 72
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Ii 57
Granulomatous Disease, Chronic, Due to Ncf2 Deficiency 57
Chronic Granulomatous Disease 2, Autosomal Recessive 57
Autosomal Recessive Chronic Granulomatous Disease 2 12
Deficiency of Neutrophil Cytosol Factor 2 72
Neutrophil Cytosol Factor 2 Deficiency 57
Avellino Corneal Dystrophy 70
Deficiency of P67-Phox 12
Deficiency of Ncf2 12
Cdg2 12

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in first decade
four types of cgd with basically identical clinical phenotypes
x-linked recessive cytochrome b-negative cgd
autosomal recessive cytochrome b-positive cgd, type i
autosomal recessive cytochrome b-positive cgd, type ii
autosomal recessive cytochrome b-negative cgd


HPO:

31
granulomatous disease, chronic, autosomal recessive, 2:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, 2

UniProtKB/Swiss-Prot : 72 Granulomatous disease, chronic, cytochrome-b-positive 2, autosomal recessive: A form of chronic granulomatous disease, a primary immunodeficiency characterized by severe recurrent bacterial and fungal infections, along with manifestations of chronic granulomatous inflammation. It results from an impaired ability of phagocytes to mount a burst of reactive oxygen species in response to pathogens.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 2, also known as chronic granulomatous disease due to deficiency of ncf-2, is related to corneal dystrophy, avellino type and phagocyte bactericidal dysfunction, and has symptoms including glare - eye symptom An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 2 is NCF2 (Neutrophil Cytosolic Factor 2). Affiliated tissues include neutrophil, eye and liver, and related phenotypes are splenomegaly and hepatomegaly

Disease Ontology : 12 A chronic granulomatous disease characterized by autosomal recessive inheritance that has material basis in mutation in the NCF2 gene on chromosome 1q25.

More information from OMIM: 233710 PS306400

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 2:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 2

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 2:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 31 HP:0001744
2 hepatomegaly 31 HP:0002240
3 immunodeficiency 31 HP:0002721
4 cellulitis 31 HP:0100658
5 osteomyelitis 31 HP:0002754
6 recurrent pneumonia 31 HP:0006532
7 liver abscess 31 HP:0100523
8 recurrent bacterial skin infections 31 HP:0005406
9 lymphadenopathy 31 HP:0002716
10 granulomatosis 31 HP:0002955
11 recurrent staphylococcus aureus infections 31 HP:0002726
12 eczematoid dermatitis 31 HP:0000976
13 recurrent aspergillus infections 31 HP:0002724
14 rectal abscess 31 HP:0005224
15 lymphadenitis 31 HP:0002840
16 decreased activity of nadph oxidase 31 HP:0003206
17 discoid lupus rash 31 HP:0007417
18 absence of bactericidal oxidative respiratory burst in phagocytes 31 HP:0002723
19 recurrent e. coli infections 31 HP:0002740
20 recurrent serratia marcescens infections 31 HP:0002741
21 recurrent klebsiella infections 31 HP:0002742
22 recurrent burkholderia cepacia infections 31 HP:0002842
23 impaired oxidative burst 31 HP:0003203

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
Laboratory Abnormalities:
decreased activity of nadph oxidase
negative nitroblue tetrazolium (nbt) reduction test
presence of cytochrome b(-245)
deficiency or absence of p67-phox protein (type ii)

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Skin Nails Hair Skin:
eczematoid dermatitis
discoid lupus in carriers or adults with mild disease
dermatitis, infectious, due to immunodeficiency
impetigo

Respiratory Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Clinical features from OMIM®:

233710 (Updated 05-Apr-2021)

UMLS symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, 2:


glare - eye symptom

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, 2:

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 2 29 NCF2
2 Chronic Granulomatous Disease Due to Deficiency of Ncf-2 29

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, 2

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 2:

40
Neutrophil, Eye, Liver

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 2:

(show all 18)
# Title Authors PMID Year
1
Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide adenine dinucleotide phosphate (reduced form) oxidase component p67-phox. 57 6
10498624 1999
2
AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein. 6 57
7795241 1995
3
Two CGD Families with a Hypomorphic Mutation in the Activation Domain of p67phox. 6
25937994 2014
4
Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). 6
20167518 2010
5
Four different NCF2 mutations in six families from Turkey and an overview of NCF2 gene mutations. 6
19624736 2009
6
Focus on FOCIS: the continuing diagnostic challenge of autosomal recessive chronic granulomatous disease. 6
18625437 2008
7
A 1.1-kb duplication in the p67-phox gene causes chronic granulomatous disease. 6
11499676 2001
8
Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. 57
11060536 2000
9
Autosomal recessive chronic granulomatous disease caused by novel mutations in NCF-2, the gene encoding the p67-phox component of phagocyte NADPH oxidase. 6
10598813 1999
10
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 6
9070911 1997
11
Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease. 57
7903171 1993
12
Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. 57
2770793 1989
13
Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. 57
2848318 1988
14
Genome-wide scan of granular corneal dystrophy, type II: confirmation of chromosome 5q31 and identification of new co-segregated loci on chromosome 3q26.3. 61
21628991 2011
15
In vitro activity of 79 antimicrobial agents against Corynebacterium group D2. 61
1759839 1991
16
Mass spectrometry as a tool for identifying group D2 corynebacteria by their fatty acid profiles. 61
1955869 1991
17
Multiresistant corynebacteria in bacteriuria: a comparative study of the role of Corynebacterium group D2 and Corynebacterium jeikeium. 61
1672322 1991
18
Urinary tract infection caused by Corynebacterium group D2: report of 82 cases and review. 61
2267482 1990

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, 2

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 2:

6 (show top 50) (show all 145)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NCF2 NM_000433.3(NCF2):c.1171_1175del (p.Lys391fs) Deletion Pathogenic 2242 rs796065031 GRCh37: 1:183532572-183532576
GRCh38: 1:183563437-183563441
2 NCF2 NM_000433.3(NCF2):c.298C>T (p.Gln100Ter) SNV Pathogenic 2244 rs119103276 GRCh37: 1:183546802-183546802
GRCh38: 1:183577667-183577667
3 NCF2 NM_000433.3(NCF2):c.383C>T (p.Ala128Val) SNV Pathogenic 2246 rs119103274 GRCh37: 1:183543740-183543740
GRCh38: 1:183574605-183574605
4 NCF2 NC_000001.10:g.(?_183536035)_(183536500_?)dup Duplication Pathogenic 534658 GRCh37: 1:183536035-183536500
GRCh38: 1:183566900-183567365
5 NCF2 NM_000433.3(NCF2):c.1321_1325del (p.Lys440_Glu441insTer) Deletion Pathogenic 657832 rs1472146831 GRCh37: 1:183529374-183529378
GRCh38: 1:183560239-183560243
6 NCF2 NM_000433.3(NCF2):c.1120C>T (p.Gln374Ter) SNV Pathogenic 659851 rs1572151178 GRCh37: 1:183532627-183532627
GRCh38: 1:183563492-183563492
7 NCF2 NM_000433.3(NCF2):c.40del (p.Val14fs) Deletion Pathogenic 573574 rs1290169467 GRCh37: 1:183559425-183559425
GRCh38: 1:183590290-183590290
8 NCF2 NM_000433.3(NCF2):c.904del (p.His302fs) Deletion Pathogenic 579352 rs777621636 GRCh37: 1:183536075-183536075
GRCh38: 1:183566940-183566940
9 NCF2 NM_001190789.1(NCF2):c.366+3010_366+3011dup Duplication Pathogenic 2239 rs796065030 GRCh37: 1:183543722-183543723
GRCh38: 1:183574587-183574588
10 NCF2 NM_001190789.1(NCF2):c.366+3090A>T SNV Pathogenic 2240 rs267606912 GRCh37: 1:183543644-183543644
GRCh38: 1:183574509-183574509
11 NCF2 NM_001190789.1(NCF2):c.366+3093del Deletion Pathogenic 569407 rs1558098982 GRCh37: 1:183543641-183543641
GRCh38: 1:183574506-183574506
12 NCF2 NM_000433.3(NCF2):c.366+1G>A SNV Pathogenic 2243 rs796065032 GRCh37: 1:183546733-183546733
GRCh38: 1:183577598-183577598
13 NCF2 NM_000433.3(NCF2):c.304C>T (p.Arg102Ter) SNV Pathogenic 2241 rs374402066 GRCh37: 1:183546796-183546796
GRCh38: 1:183577661-183577661
14 NCF2 NM_000433.4(NCF2):c.174+1G>A SNV Pathogenic 1032354 GRCh37: 1:183559290-183559290
GRCh38: 1:183590155-183590155
15 NCF2 NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) Deletion Likely pathogenic 2245 rs796065033 GRCh37: 1:183559402-183559410
GRCh38: 1:183590267-183590275
16 NCF2 NM_000433.3(NCF2):c.1026+1G>C SNV Likely pathogenic 572791 rs1558092897 GRCh37: 1:183533139-183533139
GRCh38: 1:183564004-183564004
17 NCF2 NM_000433.3(NCF2):c.605C>T (p.Ala202Val) SNV Likely pathogenic 68497 rs137854508 GRCh37: 1:183542324-183542324
GRCh38: 1:183573189-183573189
18 NCF2 NC_000001.11:g.(?_183577579)_(183577727_?)dup Duplication Likely pathogenic 832066 GRCh37: 1:183546714-183546862
GRCh38:
19 NCF2 NM_000433.4(NCF2):c.1178+1G>A SNV Likely pathogenic 859746 GRCh37: 1:183532568-183532568
GRCh38: 1:183563433-183563433
20 NCF2 NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) SNV Conflicting interpretations of pathogenicity 737950 rs119103276 GRCh37: 1:183546802-183546802
GRCh38: 1:183577667-183577667
21 NCF2 NM_000433.4(NCF2):c.918G>A (p.Gln306=) SNV Conflicting interpretations of pathogenicity 759738 rs535561432 GRCh37: 1:183536061-183536061
GRCh38: 1:183566926-183566926
22 NCF2 NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) SNV Conflicting interpretations of pathogenicity 755912 rs142803799 GRCh37: 1:183556090-183556090
GRCh38: 1:183586955-183586955
23 NCF2 NM_000433.3(NCF2):c.1184G>A (p.Arg395Gln) SNV Conflicting interpretations of pathogenicity 294080 rs145229115 GRCh37: 1:183532436-183532436
GRCh38: 1:183563301-183563301
24 NCF2 NM_000433.3(NCF2):c.113G>A (p.Arg38Gln) SNV Conflicting interpretations of pathogenicity 287151 rs147415774 GRCh37: 1:183559352-183559352
GRCh38: 1:183590217-183590217
25 NCF2 NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) SNV Conflicting interpretations of pathogenicity 791565 rs137937390 GRCh37: 1:183534901-183534901
GRCh38: 1:183565766-183565766
26 NCF2 NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) SNV Conflicting interpretations of pathogenicity 294084 rs115365142 GRCh37: 1:183542366-183542366
GRCh38: 1:183573231-183573231
27 NCF2 NM_000433.3(NCF2):c.1081A>T (p.Thr361Ser) SNV Conflicting interpretations of pathogenicity 466297 rs147744729 GRCh37: 1:183532666-183532666
GRCh38: 1:183563531-183563531
28 NCF2 NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln) SNV Uncertain significance 973653 GRCh37: 1:183525266-183525266
GRCh38: 1:183556131-183556131
29 NCF2 NM_000433.4(NCF2):c.869C>T (p.Pro290Leu) SNV Uncertain significance 1035986 GRCh37: 1:183536110-183536110
GRCh38: 1:183566975-183566975
30 NCF2 NM_000433.4(NCF2):c.898C>T (p.Arg300Trp) SNV Uncertain significance 1036597 GRCh37: 1:183536081-183536081
GRCh38: 1:183566946-183566946
31 NCF2 NM_000433.4(NCF2):c.395C>T (p.Ala132Val) SNV Uncertain significance 1039998 GRCh37: 1:183543728-183543728
GRCh38: 1:183574593-183574593
32 NCF2 NM_000433.3(NCF2):c.636C>T (p.Asp212=) SNV Uncertain significance 497911 rs774027102 GRCh37: 1:183539948-183539948
GRCh38: 1:183570813-183570813
33 NCF2 NM_000433.3(NCF2):c.1581G>C (p.Ter527Tyr) SNV Uncertain significance 534654 rs768748386 GRCh37: 1:183525253-183525253
GRCh38: 1:183556118-183556118
34 NCF2 NM_000433.4(NCF2):c.1492_1496dup (p.Cys499fs) Duplication Uncertain significance 933838 GRCh37: 1:183525337-183525338
GRCh38: 1:183556202-183556203
35 NCF2 NM_001127651.3(NCF2):c.-30-234C>T SNV Uncertain significance 875389 GRCh37: 1:183559728-183559728
GRCh38: 1:183590593-183590593
36 NCF2 NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) SNV Uncertain significance 2247 rs119103275 GRCh37: 1:183556057-183556057
GRCh38: 1:183586922-183586922
37 NCF2 NM_000433.4(NCF2):c.609G>A (p.Thr203=) SNV Uncertain significance 844354 GRCh37: 1:183542320-183542320
GRCh38: 1:183573185-183573185
38 NCF2 NM_000433.4(NCF2):c.413A>G (p.Lys138Arg) SNV Uncertain significance 848612 GRCh37: 1:183543710-183543710
GRCh38: 1:183574575-183574575
39 NCF2 NM_000433.4(NCF2):c.1165C>A (p.His389Asn) SNV Uncertain significance 946961 GRCh37: 1:183532582-183532582
GRCh38: 1:183563447-183563447
40 NCF2 NM_000433.4(NCF2):c.157A>G (p.Met53Val) SNV Uncertain significance 947988 GRCh37: 1:183559308-183559308
GRCh38: 1:183590173-183590173
41 NCF2 NM_000433.4(NCF2):c.373T>C (p.Tyr125His) SNV Uncertain significance 956893 GRCh37: 1:183543750-183543750
GRCh38: 1:183574615-183574615
42 NCF2 NM_000433.4(NCF2):c.1018G>A (p.Glu340Lys) SNV Uncertain significance 963926 GRCh37: 1:183533148-183533148
GRCh38: 1:183564013-183564013
43 NCF2 NM_000433.4(NCF2):c.1460T>C (p.Leu487Ser) SNV Uncertain significance 1001096 GRCh37: 1:183529239-183529239
GRCh38: 1:183560104-183560104
44 NCF2 NM_000433.4(NCF2):c.1364A>G (p.Gln455Arg) SNV Uncertain significance 1002034 GRCh37: 1:183529335-183529335
GRCh38: 1:183560200-183560200
45 NCF2 NM_000433.4(NCF2):c.200A>G (p.Asp67Gly) SNV Uncertain significance 1003312 GRCh37: 1:183556087-183556087
GRCh38: 1:183586952-183586952
46 NCF2 NM_000433.4(NCF2):c.670-9G>A SNV Uncertain significance 1005313 GRCh37: 1:183538329-183538329
GRCh38: 1:183569194-183569194
47 NCF2 NM_000433.4(NCF2):c.739G>T (p.Val247Leu) SNV Uncertain significance 1008579 GRCh37: 1:183536455-183536455
GRCh38: 1:183567320-183567320
48 NCF2 NM_000433.4(NCF2):c.1126C>T (p.Arg376Trp) SNV Uncertain significance 1009320 GRCh37: 1:183532621-183532621
GRCh38: 1:183563486-183563486
49 NCF2 NM_000433.4(NCF2):c.138G>A (p.Met46Ile) SNV Uncertain significance 1010288 GRCh37: 1:183559327-183559327
GRCh38: 1:183590192-183590192
50 NCF2 NM_000433.4(NCF2):c.821A>G (p.Asn274Ser) SNV Uncertain significance 1010894 GRCh37: 1:183536373-183536373
GRCh38: 1:183567238-183567238

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 2:

72 (show all 14)
# 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

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 2.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, 2

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, 2

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oligosaccharyltransferase complex GO:0008250 8.62 OST4 DDOST

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein N-linked glycosylation GO:0006487 9.16 PMM2 DDOST
2 protein N-linked glycosylation via asparagine GO:0018279 8.96 OST4 DDOST
3 protein glycosylation GO:0006486 8.92 PMM2 OST4 DDOST ALG3

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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