CGD3
MCID: GRN038
MIFTS: 34

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii (CGD3)

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 57 29 13 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type Iii 12 15
Cdg3 57 12
Granulomatous Disease, Chronic, Autosomal Recessive Cytochrome B-Positive, Type 3 40
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type Iii 75
Granulomatous Disease, Chronic, Cytochrome-B-Positive 3, Autosomal Recessive 75
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 75
Chronic Granulomatous Disease Due to Ncf4 Deficiency 12
Granulomatous Disease Chronic Due to Ncf4 Deficiency 75
Cgd3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type iii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613960
Disease Ontology 12 DOID:0070194
MedGen 42 C3151409
MeSH 44 D006105

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

OMIM : 57 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 immunodeficiency 19. 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 CXCR4-mediated signaling events. Affiliated tissues include neutrophil, skin and bone, 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 : 75 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...

Diseases in the Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Negative family:

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Ii
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii

Diseases related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type Iii via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i 10.0 ALG3 PMM2
2 immunodeficiency 19 9.9 CD3D CD3G
3 immunodeficiency 18 9.9 CD3D CD3G
4 immunodeficiency 17 9.8 CD3D CD3G
5 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii 9.6 ALG3 CTDSPL PMM2 TNFRSF8

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# Description HPO Frequency HPO Source Accession
1 diarrhea 32 HP:0002014
2 recurrent aphthous stomatitis 32 HP:0011107
3 recurrent sinusitis 32 HP:0011108
4 colitis 32 HP:0002583
5 perioral eczema 32 HP:0011127

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:

41
Neutrophil, Skin, Bone

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

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

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

75
# Symbol AA change Variation ID SNP ID
1 NCF4 p.Arg105Gln VAR_065949 rs387906808

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

6 (show top 50) (show all 54)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCF4 NM_013416.3(NCF4): c.143_152delAAGGAGGATC (p.Lys48Thrfs) deletion Pathogenic rs876657377 GRCh37 Chromosome 22, 37260986: 37260995
2 NCF4 NM_013416.3(NCF4): c.143_152delAAGGAGGATC (p.Lys48Thrfs) deletion Pathogenic rs876657377 GRCh38 Chromosome 22, 36864944: 36864953
3 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh37 Chromosome 22, 37263476: 37263476
4 NCF4 NM_013416.3(NCF4): c.314G> A (p.Arg105Gln) single nucleotide variant Pathogenic rs387906808 GRCh38 Chromosome 22, 36867434: 36867434
5 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh37 Chromosome 22, 37260123: 37260123
6 NCF4 NM_013416.3(NCF4): c.69G> A (p.Ser23=) single nucleotide variant Benign/Likely benign rs10854695 GRCh38 Chromosome 22, 36864081: 36864081
7 NCF4 NM_013416.3(NCF4): c.254C> A (p.Thr85Asn) single nucleotide variant Benign/Likely benign rs112306225 GRCh37 Chromosome 22, 37261097: 37261097
8 NCF4 NM_013416.3(NCF4): c.254C> A (p.Thr85Asn) single nucleotide variant Benign/Likely benign rs112306225 GRCh38 Chromosome 22, 36865055: 36865055
9 NCF4 NM_013416.3(NCF4): c.271+7G> A single nucleotide variant Benign/Likely benign rs201881905 GRCh37 Chromosome 22, 37261121: 37261121
10 NCF4 NM_013416.3(NCF4): c.271+7G> A single nucleotide variant Benign/Likely benign rs201881905 GRCh38 Chromosome 22, 36865079: 36865079
11 NCF4 NM_013416.3(NCF4): c.240T> C (p.Ser80=) single nucleotide variant Conflicting interpretations of pathogenicity rs35431748 GRCh37 Chromosome 22, 37261083: 37261083
12 NCF4 NM_013416.3(NCF4): c.240T> C (p.Ser80=) single nucleotide variant Conflicting interpretations of pathogenicity rs35431748 GRCh38 Chromosome 22, 36865041: 36865041
13 NCF4 NM_013416.3(NCF4): c.63C> T (p.Ala21=) single nucleotide variant Benign/Likely benign rs34373276 GRCh37 Chromosome 22, 37260117: 37260117
14 NCF4 NM_013416.3(NCF4): c.63C> T (p.Ala21=) single nucleotide variant Benign/Likely benign rs34373276 GRCh38 Chromosome 22, 36864075: 36864075
15 NCF4 NM_013416.3(NCF4): c.271+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200052796 GRCh37 Chromosome 22, 37261120: 37261120
16 NCF4 NM_013416.3(NCF4): c.271+6C> T single nucleotide variant Conflicting interpretations of pathogenicity rs200052796 GRCh38 Chromosome 22, 36865078: 36865078
17 NCF4 NM_013416.3(NCF4): c.478G> A (p.Val160Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150103256 GRCh37 Chromosome 22, 37267701: 37267701
18 NCF4 NM_013416.3(NCF4): c.478G> A (p.Val160Met) single nucleotide variant Conflicting interpretations of pathogenicity rs150103256 GRCh38 Chromosome 22, 36871659: 36871659
19 NCF4 NM_013416.3(NCF4): c.647C> T (p.Thr216Met) single nucleotide variant Uncertain significance rs146911421 GRCh37 Chromosome 22, 37271714: 37271714
20 NCF4 NM_013416.3(NCF4): c.647C> T (p.Thr216Met) single nucleotide variant Uncertain significance rs146911421 GRCh38 Chromosome 22, 36875672: 36875672
21 NCF4 NM_013416.3(NCF4): c.343-4A> G single nucleotide variant Benign rs79312013 GRCh37 Chromosome 22, 37266453: 37266453
22 NCF4 NM_013416.3(NCF4): c.343-4A> G single nucleotide variant Benign rs79312013 GRCh38 Chromosome 22, 36870411: 36870411
23 NCF4 NM_013416.3(NCF4): c.790G> A (p.Ala264Thr) single nucleotide variant Uncertain significance rs148129899 GRCh37 Chromosome 22, 37271857: 37271857
24 NCF4 NM_013416.3(NCF4): c.790G> A (p.Ala264Thr) single nucleotide variant Uncertain significance rs148129899 GRCh38 Chromosome 22, 36875815: 36875815
25 NCF4 NM_013416.3(NCF4): c.179G> A (p.Arg60His) single nucleotide variant Uncertain significance rs369847561 GRCh37 Chromosome 22, 37261022: 37261022
26 NCF4 NM_013416.3(NCF4): c.179G> A (p.Arg60His) single nucleotide variant Uncertain significance rs369847561 GRCh38 Chromosome 22, 36864980: 36864980
27 NCF4 NM_013416.3(NCF4): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs760441596 GRCh38 Chromosome 22, 36870431: 36870431
28 NCF4 NM_013416.3(NCF4): c.359C> T (p.Pro120Leu) single nucleotide variant Uncertain significance rs760441596 GRCh37 Chromosome 22, 37266473: 37266473
29 NCF4 NM_013416.3(NCF4): c.306C> T (p.Ala102=) single nucleotide variant Likely benign rs34072404 GRCh37 Chromosome 22, 37263468: 37263468
30 NCF4 NM_013416.3(NCF4): c.306C> T (p.Ala102=) single nucleotide variant Likely benign rs34072404 GRCh38 Chromosome 22, 36867426: 36867426
31 NCF4 NM_013416.3(NCF4): c.456G> A (p.Pro152=) single nucleotide variant Likely benign rs554368196 GRCh37 Chromosome 22, 37266570: 37266570
32 NCF4 NM_013416.3(NCF4): c.456G> A (p.Pro152=) single nucleotide variant Likely benign rs554368196 GRCh38 Chromosome 22, 36870528: 36870528
33 NCF4 NM_013416.3(NCF4): c.463C> A (p.Arg155=) single nucleotide variant Uncertain significance rs758154907 GRCh38 Chromosome 22, 36870535: 36870535
34 NCF4 NM_013416.3(NCF4): c.463C> A (p.Arg155=) single nucleotide variant Uncertain significance rs758154907 GRCh37 Chromosome 22, 37266577: 37266577
35 NCF4 NM_013416.3(NCF4): c.544A> C (p.Thr182Pro) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 37268384: 37268384
36 NCF4 NM_013416.3(NCF4): c.544A> C (p.Thr182Pro) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 36872342: 36872342
37 NCF4 NM_013416.3(NCF4): c.1003G> C (p.Gly335Arg) single nucleotide variant Uncertain significance rs200347935 GRCh37 Chromosome 22, 37272070: 37272070
38 NCF4 NM_013416.3(NCF4): c.1003G> C (p.Gly335Arg) single nucleotide variant Uncertain significance rs200347935 GRCh38 Chromosome 22, 36876028: 36876028
39 NCF4 NM_013416.3(NCF4): c.463C> G (p.Arg155Gly) single nucleotide variant Uncertain significance rs758154907 GRCh37 Chromosome 22, 37266577: 37266577
40 NCF4 NM_013416.3(NCF4): c.463C> G (p.Arg155Gly) single nucleotide variant Uncertain significance rs758154907 GRCh38 Chromosome 22, 36870535: 36870535
41 NCF4 NM_013416.3(NCF4): c.705C> A (p.Asp235Glu) single nucleotide variant Uncertain significance rs150656826 GRCh37 Chromosome 22, 37271772: 37271772
42 NCF4 NM_013416.3(NCF4): c.705C> A (p.Asp235Glu) single nucleotide variant Uncertain significance rs150656826 GRCh38 Chromosome 22, 36875730: 36875730
43 NCF4 NM_013416.3(NCF4): c.388C> T (p.Arg130Trp) single nucleotide variant Uncertain significance rs868444265 GRCh38 Chromosome 22, 36870460: 36870460
44 NCF4 NM_013416.3(NCF4): c.388C> T (p.Arg130Trp) single nucleotide variant Uncertain significance rs868444265 GRCh37 Chromosome 22, 37266502: 37266502
45 NCF4 NM_013416.3(NCF4): c.809G> A (p.Arg270Gln) single nucleotide variant Uncertain significance rs150640467 GRCh37 Chromosome 22, 37271876: 37271876
46 NCF4 NM_013416.3(NCF4): c.809G> A (p.Arg270Gln) single nucleotide variant Uncertain significance rs150640467 GRCh38 Chromosome 22, 36875834: 36875834
47 NCF4 NM_013416.3(NCF4): c.553A> G (p.Ser185Gly) single nucleotide variant Uncertain significance rs766040731 GRCh37 Chromosome 22, 37268393: 37268393
48 NCF4 NM_013416.3(NCF4): c.553A> G (p.Ser185Gly) single nucleotide variant Uncertain significance rs766040731 GRCh38 Chromosome 22, 36872351: 36872351
49 NCF4 NM_013416.3(NCF4): c.562G> C (p.Glu188Gln) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 37268402: 37268402
50 NCF4 NM_013416.3(NCF4): c.562G> C (p.Glu188Gln) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 36872360: 36872360

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...

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 external side of plasma membrane GO:0009897 9.43 CD248 CD3D CD3G
2 clathrin-coated vesicle membrane GO:0030665 9.16 CD3D CD3G
3 T cell receptor complex GO:0042101 8.96 CD3D CD3G
4 alpha-beta T cell receptor complex GO:0042105 8.62 CD3D CD3G

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 T cell differentiation GO:0030217 8.96 CD3D CD3G
2 positive thymic T cell selection GO:0045059 8.62 CD3D CD3G

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 transmembrane signaling receptor activity GO:0004888 8.8 CD3D CD3G TNFRSF8

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

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