CGD2
MCID: GRN063
MIFTS: 39

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 73
Ncf2 Deficiency 57 73
Cgd2 57 73
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii 57
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Ii 73
Granulomatous Disease, Chronic, Cytochrome-B-Positive 2, Autosomal Recessive 73
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 73
Neutrophil Cytosol Factor 2 Deficiency 57
Deficiency of P67-Phox 12
Deficiency of Ncf2 12
Cdg2 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 : 73 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 congenital disorder of glycosylation, type iia. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 2 is NCF2 (Neutrophil Cytosolic Factor 2). Affiliated tissues include neutrophil 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-Mar-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-Mar-2021)

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, Liver

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 2

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

(show all 13)
# 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. 6 57
10498624 1999
2
AG dinucleotide insertion in a patient with chronic granulomatous disease lacking cytosolic 67-kD protein. 57 6
7795241 1995
3
Long-term follow-up and outcome of 39 patients with chronic granulomatous disease. 57
11060536 2000
4
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
5
Identification of a double mutation (D160V-K161E) in the p67phox gene of a chronic granulomatous disease patient. 6
9070911 1997
6
Characterization of the p67phox gene: genomic organization and restriction fragment length polymorphism analysis for prenatal diagnosis in chronic granulomatous disease. 57
7903171 1993
7
Genetic variants of chronic granulomatous disease: prevalence of deficiencies of two cytosolic components of the NADPH oxidase system. 57
2770793 1989
8
Two cytosolic neutrophil oxidase components absent in autosomal chronic granulomatous disease. 57
2848318 1988
9
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
10
In vitro activity of 79 antimicrobial agents against Corynebacterium group D2. 61
1759839 1991
11
Mass spectrometry as a tool for identifying group D2 corynebacteria by their fatty acid profiles. 61
1955869 1991
12
Multiresistant corynebacteria in bacteriuria: a comparative study of the role of Corynebacterium group D2 and Corynebacterium jeikeium. 61
1672322 1991
13
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 128)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NCF2 NM_000433.3(NCF2):c.383C>T (p.Ala128Val) SNV Pathogenic 2246 rs119103274 1:183543740-183543740 1:183574605-183574605
2 NCF2 NM_000433.3(NCF2):c.304C>T (p.Arg102Ter) SNV Pathogenic 2241 rs374402066 1:183546796-183546796 1:183577661-183577661
3 NCF2 NM_000433.3(NCF2):c.1171_1175del (p.Lys391fs) Deletion Pathogenic 2242 rs796065031 1:183532572-183532576 1:183563437-183563441
4 NCF2 NM_000433.3(NCF2):c.366+1G>A SNV Pathogenic 2243 rs796065032 1:183546733-183546733 1:183577598-183577598
5 NCF2 NM_000433.3(NCF2):c.298C>T (p.Gln100Ter) SNV Pathogenic 2244 rs119103276 1:183546802-183546802 1:183577667-183577667
6 NCF2 NC_000001.10:g.(?_183536035)_(183536500_?)dup Duplication Pathogenic 534658 1:183536035-183536500 1:183566900-183567365
7 NCF2 NM_000433.3(NCF2):c.1321_1325del (p.Lys440_Glu441insTer) Deletion Pathogenic 657832 rs1472146831 1:183529374-183529378 1:183560239-183560243
8 NCF2 NM_000433.3(NCF2):c.1120C>T (p.Gln374Ter) SNV Pathogenic 659851 rs1572151178 1:183532627-183532627 1:183563492-183563492
9 NCF2 NM_000433.3(NCF2):c.40del (p.Val14fs) Deletion Pathogenic 573574 rs1290169467 1:183559425-183559425 1:183590290-183590290
10 NCF2 NM_000433.3(NCF2):c.904del (p.His302fs) Deletion Pathogenic 579352 rs777621636 1:183536075-183536075 1:183566940-183566940
11 NCF2 NM_001190789.1(NCF2):c.366+3010_366+3011dup Duplication Pathogenic 2239 rs796065030 1:183543722-183543723 1:183574587-183574588
12 NCF2 NM_001190789.1(NCF2):c.366+3090A>T SNV Pathogenic 2240 rs267606912 1:183543644-183543644 1:183574509-183574509
13 NCF2 NM_001190789.1(NCF2):c.366+3093del Deletion Pathogenic 569407 rs1558098982 1:183543641-183543641 1:183574506-183574506
14 NCF2 NM_000433.3(NCF2):c.1026+1G>C SNV Likely pathogenic 572791 rs1558092897 1:183533139-183533139 1:183564004-183564004
15 NCF2 NM_000433.3(NCF2):c.605C>T (p.Ala202Val) SNV Likely pathogenic 68497 rs137854508 1:183542324-183542324 1:183573189-183573189
16 NCF2 NC_000001.11:g.(?_183577579)_(183577727_?)dup Duplication Likely pathogenic 832066 1:183546714-183546862
17 NCF2 NM_000433.4(NCF2):c.1178+1G>A SNV Likely pathogenic 859746 1:183532568-183532568 1:183563433-183563433
18 NCF2 NM_000433.3(NCF2):c.55_63del (p.Lys19_Asp21del) Deletion Likely pathogenic 2245 rs796065033 1:183559402-183559410 1:183590267-183590275
19 NCF2 NM_000433.3(NCF2):c.1184G>A (p.Arg395Gln) SNV Conflicting interpretations of pathogenicity 294080 rs145229115 1:183532436-183532436 1:183563301-183563301
20 NCF2 NM_000433.4(NCF2):c.298C>G (p.Gln100Glu) SNV Conflicting interpretations of pathogenicity 737950 rs119103276 1:183546802-183546802 1:183577667-183577667
21 NCF2 NM_000433.4(NCF2):c.918G>A (p.Gln306=) SNV Conflicting interpretations of pathogenicity 759738 rs535561432 1:183536061-183536061 1:183566926-183566926
22 NCF2 NM_000433.4(NCF2):c.197G>A (p.Arg66Gln) SNV Conflicting interpretations of pathogenicity 755912 rs142803799 1:183556090-183556090 1:183586955-183586955
23 NCF2 NM_000433.3(NCF2):c.113G>A (p.Arg38Gln) SNV Conflicting interpretations of pathogenicity 287151 rs147415774 1:183559352-183559352 1:183590217-183590217
24 NCF2 NM_000433.3(NCF2):c.1081A>T (p.Thr361Ser) SNV Conflicting interpretations of pathogenicity 466297 rs147744729 1:183532666-183532666 1:183563531-183563531
25 NCF2 NM_000433.3(NCF2):c.636C>T (p.Asp212=) SNV Uncertain significance 497911 rs774027102 1:183539948-183539948 1:183570813-183570813
26 NCF2 NM_000433.4(NCF2):c.1568G>A (p.Arg523Gln) SNV Uncertain significance 973653 1:183525266-183525266 1:183556131-183556131
27 NCF2 NM_000433.3(NCF2):c.1581G>C (p.Ter527Tyr) SNV Uncertain significance 534654 rs768748386 1:183525253-183525253 1:183556118-183556118
28 NCF2 NM_000433.4(NCF2):c.1492_1496dup (p.Cys499fs) Duplication Uncertain significance 933838 1:183525337-183525338 1:183556202-183556203
29 NCF2 NM_001127651.3(NCF2):c.-30-234C>T SNV Uncertain significance 875389 1:183559728-183559728 1:183590593-183590593
30 NCF2 NM_000433.3(NCF2):c.1514T>C (p.Ile505Thr) SNV Uncertain significance 578071 rs937597401 1:183525320-183525320 1:183556185-183556185
31 NCF2 NM_000433.4(NCF2):c.1375G>C (p.Gly459Arg) SNV Uncertain significance 876257 1:183529324-183529324 1:183560189-183560189
32 NCF2 NM_000433.4(NCF2):c.1071C>T (p.His357=) SNV Uncertain significance 876376 1:183532676-183532676 1:183563541-183563541
33 NCF2 NM_000433.3(NCF2):c.812A>G (p.Lys271Arg) SNV Uncertain significance 575581 rs1558094825 1:183536382-183536382 1:183567247-183567247
34 NCF2 NM_000433.3(NCF2):c.1546A>G (p.Thr516Ala) SNV Uncertain significance 651357 rs1038329001 1:183525288-183525288 1:183556153-183556153
35 NCF2 NM_000433.3(NCF2):c.230G>A (p.Arg77Gln) SNV Uncertain significance 2247 rs119103275 1:183556057-183556057 1:183586922-183586922
36 NCF2 NM_000433.4(NCF2):c.1055A>G (p.Tyr352Cys) SNV Uncertain significance 876377 1:183532692-183532692 1:183563557-183563557
37 NCF2 NM_000433.4(NCF2):c.1189C>T (p.Arg397Trp) SNV Uncertain significance 937526 1:183532431-183532431 1:183563296-183563296
38 NCF2 NM_000433.4(NCF2):c.818_832del (p.Gly273_Trp277del) Deletion Uncertain significance 939717 1:183536362-183536376 1:183567227-183567241
39 NCF2 NM_000433.4(NCF2):c.1183C>G (p.Arg395Gly) SNV Uncertain significance 942822 1:183532437-183532437 1:183563302-183563302
40 NCF2 NM_000433.4(NCF2):c.1165C>A (p.His389Asn) SNV Uncertain significance 946961 1:183532582-183532582 1:183563447-183563447
41 NCF2 NM_000433.4(NCF2):c.157A>G (p.Met53Val) SNV Uncertain significance 947988 1:183559308-183559308 1:183590173-183590173
42 NCF2 NM_000433.4(NCF2):c.1291-3C>T SNV Uncertain significance 948062 1:183529411-183529411 1:183560276-183560276
43 NCF2 NM_000433.4(NCF2):c.979G>A (p.Gly327Arg) SNV Uncertain significance 950830 1:183534860-183534860 1:183565725-183565725
44 NCF2 NM_000433.4(NCF2):c.373T>C (p.Tyr125His) SNV Uncertain significance 956893 1:183543750-183543750 1:183574615-183574615
45 NCF2 NM_000433.4(NCF2):c.669+6G>C SNV Uncertain significance 960563 1:183539909-183539909 1:183570774-183570774
46 NCF2 NM_000433.4(NCF2):c.1018G>A (p.Glu340Lys) SNV Uncertain significance 963926 1:183533148-183533148 1:183564013-183564013
47 NCF2 NM_000433.3(NCF2):c.1321G>A (p.Glu441Lys) SNV Uncertain significance 567854 rs759940920 1:183529378-183529378 1:183560243-183560243
48 NCF2 NM_000433.3(NCF2):c.692C>T (p.Pro231Leu) SNV Uncertain significance 660978 rs144451516 1:183538298-183538298 1:183569163-183569163
49 NCF2 NM_000433.4(NCF2):c.670-4A>G SNV Uncertain significance 861672 1:183538324-183538324 1:183569189-183569189
50 NCF2 NM_000433.4(NCF2):c.1268C>G (p.Thr423Ser) SNV Uncertain significance 863055 1:183532352-183532352 1:183563217-183563217

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

73 (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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....