CDG3
MCID: GRN038
MIFTS: 35

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii (CDG3)

Categories: Bone diseases, Genetic diseases, Immune diseases, Respiratory diseases, Skin diseases

Aliases & Classifications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

MalaCards integrated aliases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii 56 29 13 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii 12 15
Cdg3 56 12
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 56
Granulomatous Disease, Chronic, Due to Ncf4 Deficiency 56
Autosomal Recessive Cytochrome B-Positive Cgd Type Iii 12
Cgd Autosomal Recessive Cytochrome B-Positive Type Iii 73
Chronic Granulomatous Disease Due to Ncf4 Deficiency 12
Granulomatous Disease Chronic Due to Ncf4 Deficiency 73
Cgd3 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one patient has been reported (as of may 2011)


HPO:

31
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0070194
OMIM 56 613960
OMIM Phenotypic Series 56 PS306400
MeSH 43 D006105
MedGen 41 C3151409

Summaries for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

OMIM : 56 Autosomal recessive cytochrome b-positive chronic granulomatous disease (CGD) type III is a immunodeficiency disorder characterized by recurrent pyogenic infections and granulomatous inflammation resulting from loss of phagocyte superoxide production (summary by Matute et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of chronic granulomatous disease, see the well-established X-linked recessive cytochrome b-negative form (CGD; 306400). (613960)

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii, also known as autosomal recessive chronic granulomatous disease cytochrome b-positive type iii, is related to granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i and granulomatous disease, chronic, autosomal recessive, cytochrome b-negative. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii is NCF4 (Neutrophil Cytosolic Factor 4), and among its related pathways/superpathways are Antigen processing-Cross presentation and Detoxification of Reactive Oxygen Species. Affiliated tissues include neutrophil, bone and skin, 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 disorder characterized by the inability of neutrophils and phagocytes to kill microbes that they have ingested. Patients suffer from life-threatening bacterial/fungal infections.

Related Diseases for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Graphical network of the top 20 diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:



Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Symptoms & Phenotypes for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Human phenotypes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

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 recurrent sinusitis 31 HP:0011108
5 perioral eczema 31 HP:0011127

Symptoms via clinical synopsis from OMIM:

56
Immunology:
recurrent infections
neutrophils show defective intracellular nadph oxidase production

Respiratory:
recurrent sinusitis

Abdomen Gastrointestinal:
diarrhea
chronic granulomatous colitis
perianal infections

Head And Neck Mouth:
perioral eczema
aphthous ulcers

Clinical features from OMIM:

613960

Drugs & Therapeutics for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Search Clinical Trials , NIH Clinical Center for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Genetic Tests for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Genetic tests related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

# 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, Cytochrome...

MalaCards organs/tissues related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

40
Neutrophil, Bone, Skin

Publications for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Articles related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

# Title Authors PMID Year
1
A new genetic subgroup of chronic granulomatous disease with autosomal recessive mutations in p40 phox and selective defects in neutrophil NADPH oxidase activity. 56 6
19692703 2009
2
Chronic Granulomatous Disease 6
22876374 2012
3
Neutrophils from p40phox-/- mice exhibit severe defects in NADPH oxidase regulation and oxidant-dependent bacterial killing. 56
16880254 2006
4
[Differences between the inpatient complication rate after ureterorenoscopy and the 30-day outcome reported by the patient - results of the German prospective BUSTER study]. 61
29895078 2019
5
Three cdg operons control cellular turnover of cyclic di-GMP in Acetobacter xylinum: genetic organization and occurrence of conserved domains in isoenzymes. 61
9721278 1998

Variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

ClinVar genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NCF4 NM_000631.5(NCF4):c.143_152del (p.Lys48fs)deletion Pathogenic 30193 rs876657377 22:37260986-37260995 22:36864944-36864953
2 NCF4 NM_000631.5(NCF4):c.314G>A (p.Arg105Gln)SNV Pathogenic 30194 rs387906808 22:37263476-37263476 22:36867434-36867434
3 NCF1 NM_000265.6(NCF1):c.579G>A (p.Trp193Ter)SNV Pathogenic 426990 rs145360423 7:74197872-74197872 7:74783529-74783529
4 NCF4 NM_000631.5(NCF4):c.758+50C>TSNV Pathogenic 652770 22:37271875-37271875 22:36875833-36875833
5 NCF4 NC_000022.11:g.36864921_36864935deldeletion Likely pathogenic 803685 22:37260959-37260973 22:36864917-36864931
6 NCF4 NM_000631.5(NCF4):c.647C>T (p.Thr216Met)SNV Uncertain significance 341555 rs146911421 22:37271714-37271714 22:36875672-36875672
7 NCF4 NM_000631.5(NCF4):c.758+32G>ASNV Uncertain significance 539177 rs148129899 22:37271857-37271857 22:36875815-36875815
8 NCF4 NM_000631.5(NCF4):c.179G>A (p.Arg60His)SNV Uncertain significance 539179 rs369847561 22:37261022-37261022 22:36864980-36864980
9 NCF4 NM_000631.5(NCF4):c.359C>T (p.Pro120Leu)SNV Uncertain significance 539176 rs760441596 22:37266473-37266473 22:36870431-36870431
10 NCF4 NM_000631.5(NCF4):c.463C>A (p.Arg155=)SNV Uncertain significance 539174 rs758154907 22:37266577-37266577 22:36870535-36870535
11 NCF4 NM_000631.5(NCF4):c.544A>C (p.Thr182Pro)SNV Uncertain significance 539175 rs1168414742 22:37268384-37268384 22:36872342-36872342
12 NCF4 NM_000631.5(NCF4):c.759-1G>CSNV Uncertain significance 539178 rs200347935 22:37272070-37272070 22:36876028-36876028
13 NCF4 NM_000631.5(NCF4):c.463C>G (p.Arg155Gly)SNV Uncertain significance 574446 rs758154907 22:37266577-37266577 22:36870535-36870535
14 NCF4 NM_000631.5(NCF4):c.705C>A (p.Asp235Glu)SNV Uncertain significance 579895 rs150656826 22:37271772-37271772 22:36875730-36875730
15 NCF4 NM_000631.5(NCF4):c.388C>T (p.Arg130Trp)SNV Uncertain significance 570297 rs868444265 22:37266502-37266502 22:36870460-36870460
16 NCF4 NM_000631.5(NCF4):c.758+51G>ASNV Uncertain significance 576370 rs150640467 22:37271876-37271876 22:36875834-36875834
17 NCF4 NM_000631.5(NCF4):c.553A>G (p.Ser185Gly)SNV Uncertain significance 577126 rs766040731 22:37268393-37268393 22:36872351-36872351
18 NCF4 NM_000631.5(NCF4):c.562G>C (p.Glu188Gln)SNV Uncertain significance 566597 rs1569114734 22:37268402-37268402 22:36872360-36872360
19 NCF4 NC_000022.10:g.(?_37260067)_(37266604_?)deldeletion Uncertain significance 584111 22:37260067-37266604 22:36864025-36870562
20 NCF4 NM_000631.5(NCF4):c.397T>C (p.Phe133Leu)SNV Uncertain significance 581849 rs1243354458 22:37266511-37266511 22:36870469-36870469
21 NCF4 NM_000631.5(NCF4):c.50C>T (p.Pro17Leu)SNV Uncertain significance 661385 22:37260104-37260104 22:36864062-36864062
22 NCF4 NM_000631.5(NCF4):c.101G>T (p.Gly34Val)SNV Uncertain significance 641455 22:37260155-37260155 22:36864113-36864113
23 NCF4 NM_000631.5(NCF4):c.122T>A (p.Phe41Tyr)SNV Uncertain significance 642515 22:37260965-37260965 22:36864923-36864923
24 NCF4 NM_000631.5(NCF4):c.129C>A (p.Ile43=)SNV Uncertain significance 645193 22:37260972-37260972 22:36864930-36864930
25 NCF4 NM_000631.5(NCF4):c.145G>A (p.Gly49Arg)SNV Uncertain significance 661353 22:37260988-37260988 22:36864946-36864946
26 NCF4 NM_000631.5(NCF4):c.337A>G (p.Met113Val)SNV Uncertain significance 657545 22:37263499-37263499 22:36867457-36867457
27 NCF4 NM_000631.5(NCF4):c.458G>A (p.Arg153His)SNV Uncertain significance 660663 22:37266572-37266572 22:36870530-36870530
28 NCF4 NM_000631.5(NCF4):c.477C>T (p.Ser159=)SNV Uncertain significance 653947 22:37267700-37267700 22:36871658-36871658
29 NCF4 NM_000631.5(NCF4):c.504C>A (p.Asp168Glu)SNV Uncertain significance 660982 22:37267727-37267727 22:36871685-36871685
30 NCF4 NM_000631.5(NCF4):c.518C>T (p.Pro173Leu)SNV Uncertain significance 650303 22:37267741-37267741 22:36871699-36871699
31 NCF4 NM_000631.5(NCF4):c.539A>C (p.Asp180Ala)SNV Uncertain significance 655016 22:37268379-37268379 22:36872337-36872337
32 NCF4 NM_000631.5(NCF4):c.638G>A (p.Arg213Gln)SNV Uncertain significance 643606 22:37271705-37271705 22:36875663-36875663
33 NCF4 NM_000631.5(NCF4):c.703G>A (p.Asp235Asn)SNV Uncertain significance 650163 22:37271770-37271770 22:36875728-36875728
34 NCF4 NM_000631.5(NCF4):c.722G>A (p.Arg241His)SNV Uncertain significance 642363 22:37271789-37271789 22:36875747-36875747
35 NCF4 NM_000631.5(NCF4):c.456G>A (p.Pro152=)SNV Likely benign 539181 rs554368196 22:37266570-37266570 22:36870528-36870528
36 NCF4 NM_000631.5(NCF4):c.106A>C (p.Thr36Pro)SNV Likely benign 803684 22:37260160-37260160 22:36864118-36864118
37 NCF4 NM_000631.5(NCF4):c.69G>A (p.Ser23=)SNV Benign/Likely benign 260306 rs10854695 22:37260123-37260123 22:36864081-36864081
38 NCF4 NM_000631.5(NCF4):c.758+57T>CSNV Benign 260308 rs2075939 22:37271882-37271882 22:36875840-36875840

UniProtKB/Swiss-Prot genetic disease variations for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii:

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

Expression for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Search GEO for disease gene expression data for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii.

Pathways for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Pathways related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.58 NCF4 NCF1 CD3G
2
Show member pathways
10.9 NCF4 NCF1
3 9.74 NCF4 NCF1

GO Terms for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

Cellular components related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 NADPH oxidase complex GO:0043020 8.96 NCF4 NCF1
2 phagolysosome GO:0032010 8.62 NCF4 NCF1

Biological processes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent GO:0002479 9.26 NCF4 NCF1
2 vascular endothelial growth factor receptor signaling pathway GO:0048010 9.16 NCF4 NCF1
3 superoxide metabolic process GO:0006801 8.96 NCF4 NCF1
4 respiratory burst GO:0045730 8.62 NCF4 NCF1

Molecular functions related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 superoxide-generating NADPH oxidase activator activity GO:0016176 8.62 NCF4 NCF1

Sources for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
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