CGD3
MCID: GRN064
MIFTS: 36

Granulomatous Disease, Chronic, Autosomal Recessive, 3 (CGD3)

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, 3

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, 3:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, 3 57
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 57 29 13 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii 12 15
Cgd3 57 73
Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3 39
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii 73
Granulomatous Disease, Chronic, Cytochrome-B-Positive 3, Autosomal Recessive 73
Cgd, Autosomal Recessive Cytochrome B-Positive, Type Iii 57
Granulomatous Disease, Chronic, Due to Ncf4 Deficiency 57
Autosomal Recessive Cytochrome B-Positive Cgd Type Iii 12
Cgd Autosomal Recessive Cytochrome B-Positive Type Iii 73
Chronic Granulomatous Disease 3, Autosomal Recessive 57
Chronic Granulomatous Disease Due to Ncf4 Deficiency 12
Granulomatous Disease Chronic Due to Ncf4 Deficiency 73
Autosomal Recessive Chronic Granulomatous Disease 3 12
Cdg3 12

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
variable phenotype
onset usually in first decade
invasive infections are uncommon

Inheritance:
autosomal recessive


HPO:

31
granulomatous disease, chronic, autosomal recessive, 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070194
OMIM® 57 613960
OMIM Phenotypic Series 57 PS306400
MeSH 44 D006105
MedGen 41 C3151409

Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, 3

OMIM® : 57 Autosomal recessive chronic granulomatous disease-3 (CGD3) is an immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation with onset usually in the first decade of life. Most patients present with colitis and features of inflammatory bowel disease. Other common manifestations include lupus-like skin lesions, skin granulomas, Staphylococcal abscesses, oral ulcers, and periodontitis. Patients usually do not have invasive infections and are not markedly susceptible to fungal infections. The disorder results from variable loss of phagocyte superoxide production due to NADPH oxidase dysfunction; it is generally less severe than other genetic types of CGD (summary by Matute et al., 2009; van de Geer et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of CGD, see the X-linked form (CGDX; 306400). (613960) (Updated 05-Mar-2021)

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, 3, also known as granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii, is related to congenital disorder of glycosylation, type iia and phagocyte bactericidal dysfunction. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, 3 is NCF4 (Neutrophil Cytosolic Factor 4), and among its related pathways/superpathways are G-protein signaling N-RAS regulation pathway and Nur77 Signaling in T-Cell. Affiliated tissues include neutrophil, and related phenotypes are diarrhea and recurrent aphthous stomatitis

Disease Ontology : 12 A chronic granulomatous disease characterized by that autosomal recessive inheritance has material basis in mutation in the NCF4 gene on chromosome 22q12.

UniProtKB/Swiss-Prot : 73 Granulomatous disease, chronic, cytochrome-b-positive 3, 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.

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, 3

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:

31
# Description HPO Frequency HPO Source Accession
1 diarrhea 31 HP:0002014
2 recurrent aphthous stomatitis 31 HP:0011107
3 colitis 31 HP:0002583
4 perioral eczema 31 HP:0011127
5 recurrent sinusitis 31 HP:0011108

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Respiratory:
recurrent respiratory infections

Head And Neck Eyes:
conjunctivitis
blepharitis

Immunology:
recurrent infections
lymphadenitis
staphylococcal infections
neutrophils show defective intracellular nadph oxidase function
impaired respiratory burst
more
Head And Neck Mouth:
periodontitis
perioral eczema
aphthous ulcers
thrush

Skin Nails Hair Skin:
eczema
recurrent skin infections
abscesses
lupus-like lesions
cutaneous lesions
more
Abdomen Gastrointestinal:
diarrhea
esophageal ulceration
chronic granulomatous colitis
perianal infections and fistula

Clinical features from OMIM®:

613960 (Updated 05-Mar-2021)

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:

# Genetic test Affiliating Genes
1 Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 29 NCF4

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, 3

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:

40
Neutrophil

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, 3:

# Title Authors PMID Year
1
Inherited p40phox deficiency differs from classic chronic granulomatous disease. 6 57
29969437 2018
2
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. 6 57
19692703 2009
3
Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. 57
17435756 2007
4
Neutrophils from p40phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing. 57
16880254 2006
5
Characterization of INS-15, A Metalloprotease Potentially Involved in the Invasion of Cryptosporidium parvum. 61
31615118 2019
6
Herpes simplex virus glycoprotein D is recognized as antigen by CD4+ and CD8+ T lymphocytes from infected mice. Characterization of T cell clones. 61
1973187 1990

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, 3

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 3:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NCF4 NM_000631.5(NCF4):c.758+50C>T SNV Pathogenic 652770 rs201021542 22:37271875-37271875 22:36875833-36875833
2 NCF4 NM_000631.5(NCF4):c.716G>A (p.Trp239Ter) SNV Pathogenic 932309 22:37271783-37271783 22:36875741-36875741
3 NCF4-AS1 NM_000631.5(NCF4):c.32+2T>G SNV Pathogenic 932310 22:37257247-37257247 22:36861205-36861205
4 NCF4-AS1 NM_000631.5(NCF4):c.143_152del (p.Lys48fs) Deletion Pathogenic 30193 rs876657377 22:37260986-37260995 22:36864944-36864953
5 NCF4-AS1 NM_000631.5(NCF4):c.118-1G>A SNV Pathogenic 425281 rs28445840 22:37260960-37260960 22:36864918-36864918
6 NCF4-AS1 NM_000631.5(NCF4):c.314G>A (p.Arg105Gln) SNV Pathogenic 30194 rs387906808 22:37263476-37263476 22:36867434-36867434
7 LOC106029312 NM_000265.6(NCF1):c.579G>A (p.Trp193Ter) SNV Pathogenic 426990 rs145360423 7:74197872-74197872 7:74783529-74783529
8 NCF4-AS1 NC_000022.11:g.36864921_36864935del Deletion Likely pathogenic 803685 rs1200078508 22:37260959-37260973 22:36864917-36864931
9 NCF4-AS1 NM_000631.5(NCF4):c.270_271+16del Deletion Likely pathogenic 842976 22:37261106-37261123 22:36865064-36865081
10 NCF4 NM_000631.5(NCF4):c.506G>A (p.Arg169His) SNV Uncertain significance 846603 22:37267729-37267729 22:36871687-36871687
11 NCF4-AS1 NM_000631.5(NCF4):c.311T>C (p.Met104Thr) SNV Uncertain significance 846758 22:37263473-37263473 22:36867431-36867431
12 NCF4 NM_000631.5(NCF4):c.759-7C>G SNV Uncertain significance 848725 22:37272064-37272064 22:36876022-36876022
13 NCF4 NM_000631.5(NCF4):c.759-97C>T SNV Uncertain significance 848741 22:37271974-37271974 22:36875932-36875932
14 NCF4-AS1 NM_000631.5(NCF4):c.229A>G (p.Ser77Gly) SNV Uncertain significance 852015 22:37261072-37261072 22:36865030-36865030
15 NCF4 NM_000631.5(NCF4):c.758+69C>T SNV Uncertain significance 853449 22:37271894-37271894 22:36875852-36875852
16 NCF4-AS1 NM_000631.5(NCF4):c.170G>T (p.Arg57Leu) SNV Uncertain significance 853519 22:37261013-37261013 22:36864971-36864971
17 NCF4 NM_000631.5(NCF4):c.758+12G>C SNV Uncertain significance 853742 22:37271837-37271837 22:36875795-36875795
18 NCF4 NM_000631.5(NCF4):c.758+62C>T SNV Uncertain significance 854352 22:37271887-37271887 22:36875845-36875845
19 NCF4 NM_000631.5(NCF4):c.759-6C>A SNV Uncertain significance 855161 22:37272065-37272065 22:36876023-36876023
20 NCF4 NM_000631.5(NCF4):c.798A>G (p.Leu266=) SNV Uncertain significance 856467 22:37272110-37272110 22:36876068-36876068
21 NCF4-AS1 NM_000631.5(NCF4):c.304G>A (p.Ala102Thr) SNV Uncertain significance 857766 22:37263466-37263466 22:36867424-36867424
22 NCF4 NM_000631.5(NCF4):c.628-3C>T SNV Uncertain significance 859548 22:37271692-37271692 22:36875650-36875650
23 NCF4 NM_000631.5(NCF4):c.758+51G>A SNV Uncertain significance 576370 rs150640467 22:37271876-37271876 22:36875834-36875834
24 NCF4 NM_000631.5(NCF4):c.544A>C (p.Thr182Pro) SNV Uncertain significance 539175 rs1168414742 22:37268384-37268384 22:36872342-36872342
25 NCF4 NM_000631.5(NCF4):c.758+32G>A SNV Uncertain significance 539177 rs148129899 22:37271857-37271857 22:36875815-36875815
26 NCF4 NM_000631.5(NCF4):c.562G>C (p.Glu188Gln) SNV Uncertain significance 566597 rs1569114734 22:37268402-37268402 22:36872360-36872360
27 NCF4 NM_000631.5(NCF4):c.388C>T (p.Arg130Trp) SNV Uncertain significance 570297 rs868444265 22:37266502-37266502 22:36870460-36870460
28 NCF4 NM_000631.5(NCF4):c.463C>G (p.Arg155Gly) SNV Uncertain significance 574446 rs758154907 22:37266577-37266577 22:36870535-36870535
29 NCF4 NM_000631.5(NCF4):c.553A>G (p.Ser185Gly) SNV Uncertain significance 577126 rs766040731 22:37268393-37268393 22:36872351-36872351
30 NCF4 NM_000631.5(NCF4):c.705C>A (p.Asp235Glu) SNV Uncertain significance 579895 rs150656826 22:37271772-37271772 22:36875730-36875730
31 NCF4 NM_000631.5(NCF4):c.397T>C (p.Phe133Leu) SNV Uncertain significance 581849 rs1243354458 22:37266511-37266511 22:36870469-36870469
32 NCF4 NM_000631.5(NCF4):c.499G>A (p.Val167Ile) SNV Uncertain significance 837549 22:37267722-37267722 22:36871680-36871680
33 NCF4 NM_000631.5(NCF4):c.451C>T (p.Arg151Cys) SNV Uncertain significance 839355 22:37266565-37266565 22:36870523-36870523
34 NCF4 NM_000631.5(NCF4):c.647C>T (p.Thr216Met) SNV Uncertain significance 341555 rs146911421 22:37271714-37271714 22:36875672-36875672
35 NCF4 NM_000631.5(NCF4):c.655T>C (p.Phe219Leu) SNV Uncertain significance 341556 rs761212596 22:37271722-37271722 22:36875680-36875680
36 NCF4-AS1 NM_000631.5(NCF4):c.28G>A (p.Glu10Lys) SNV Uncertain significance 341546 rs756372095 22:37257241-37257241 22:36861199-36861199
37 NCF4-AS1 NM_000631.5(NCF4):c.179G>A (p.Arg60His) SNV Uncertain significance 539179 rs369847561 22:37261022-37261022 22:36864980-36864980
38 NCF4-AS1 NC_000022.11:g.(?_36864025)_(36870562_?)del Deletion Uncertain significance 584111 22:37260067-37266604 22:36864025-36870562
39 NCF4 NM_000631.5(NCF4):c.759-49C>T SNV Uncertain significance 933756 22:37272022-37272022 22:36875980-36875980
40 NCF4 NM_000631.5(NCF4):c.774G>A (p.Glu258=) SNV Uncertain significance 944277 22:37272086-37272086 22:36876044-36876044
41 NCF4 NM_000631.5(NCF4):c.670G>A (p.Val224Met) SNV Uncertain significance 945677 22:37271737-37271737 22:36875695-36875695
42 NCF4 NM_000631.5(NCF4):c.758+87T>G SNV Uncertain significance 948699 22:37271912-37271912 22:36875870-36875870
43 NCF4-AS1 NM_000631.5(NCF4):c.217T>G (p.Phe73Val) SNV Uncertain significance 950441 22:37261060-37261060 22:36865018-36865018
44 NCF4-AS1 NM_000631.5(NCF4):c.248C>A (p.Ala83Asp) SNV Uncertain significance 953788 22:37261091-37261091 22:36865049-36865049
45 NCF4 NM_000631.5(NCF4):c.758+39T>A SNV Uncertain significance 959502 22:37271864-37271864 22:36875822-36875822
46 NCF4-AS1 NM_000631.5(NCF4):c.124G>C (p.Val42Leu) SNV Uncertain significance 964445 22:37260967-37260967 22:36864925-36864925
47 NCF4 NM_000631.5(NCF4):c.759-7C>A SNV Uncertain significance 968988 22:37272064-37272064 22:36876022-36876022
48 NCF4-AS1 NM_000631.5(NCF4):c.178C>T (p.Arg60Cys) SNV Uncertain significance 970787 22:37261021-37261021 22:36864979-36864979
49 NCF4 NM_000631.5(NCF4):c.463C>A (p.Arg155=) SNV Uncertain significance 539174 rs758154907 22:37266577-37266577 22:36870535-36870535
50 NCF4-AS1 NM_000631.5(NCF4):c.359C>T (p.Pro120Leu) SNV Uncertain significance 539176 rs760441596 22:37266473-37266473 22:36870431-36870431

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, 3:

73
# Symbol AA change Variation ID SNP ID
1 NCF4 p.Arg105Gln VAR_065949 rs387906808

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, 3.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.11 CD3G CD3D
2 10.5 CD3G CD3D
3 10.07 CD3G CD3D

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, 3

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 alpha-beta T cell receptor complex GO:0042105 8.62 CD3G CD3D

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, 3 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive thymic T cell selection GO:0045059 8.62 CD3G CD3D

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, 3

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
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