CGD1
MCID: GRN049
MIFTS: 37

Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I (CGD1)

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 I:

Name: Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I 58
Chronic Granulomatous Disease Due to Deficiency of Ncf-1 58 12 13
Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 1 30 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I 12 15
Deficiency of Neutrophil Cytosol Factor 1 12 76
Cdg1 58 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I 76
Granulomatous Disease, Chronic, Cytochrome-B-Positive 1, Autosomal Recessive 76
Cgd, Autosomal Recessive Cytochrome B-Positive, Type I 58
Granulomatous Disease, Chronic, Due to Ncf1 Deficiency 58
Chronic Granulomatous Disease Due to Ncf1 Deficiency 76
Soluble Oxidase Component Ii, Deficiency of 58
Neutrophil Cytosol Factor 1, Deficiency of 58
Deficiency of Soluble Oxidase Component Ii 12
Soluble Oxidase Component Ii Deficiency 76
P47-Phox, Deficiency of 58
Deficiency of P47-Phox 12
Ncf1, Deficiency of 58
Soc2, Deficiency of 58
P47-Phox Deficiency 76
Deficiency of Ncf1 12
Deficiency of Soc2 12
Ncf1 Deficiency 76
Soc2 Deficiency 76
Cgd1 76

Characteristics:

OMIM:

58
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:

33
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i:
Onset and clinical course juvenile onset
Inheritance autosomal recessive inheritance


Classifications:



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

UniProtKB/Swiss-Prot : 76 Granulomatous disease, chronic, cytochrome-b-positive 1, 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.

MalaCards based summary : Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I, also known as chronic granulomatous disease due to deficiency of ncf-1, is related to epileptic encephalopathy, early infantile, 36 and muscular dystrophy-dystroglycanopathy , type c, 15. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I is NCF1 (Neutrophil Cytosolic Factor 1), and among its related pathways/superpathways is Synthesis of substrates in N-glycan biosythesis. Affiliated tissues include neutrophil, skin 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 NCF1 gene on chromosome 7q11.23.

Description from OMIM: 233700

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 I:



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

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

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

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 33 HP:0001744
2 hepatomegaly 33 HP:0002240
3 immunodeficiency 33 HP:0002721
4 osteomyelitis 33 HP:0002754
5 recurrent pneumonia 33 HP:0006532
6 cellulitis 33 HP:0100658
7 recurrent bacterial skin infections 33 HP:0005406
8 liver abscess 33 HP:0100523
9 lymphadenopathy 33 HP:0002716
10 granulomatosis 33 HP:0002955
11 lymphadenitis 33 HP:0002840
12 recurrent staphylococcus aureus infections 33 HP:0002726
13 recurrent aspergillus infections 33 HP:0002724
14 rectal abscess 33 HP:0005224
15 decreased activity of nadph oxidase 33 HP:0003206
16 discoid lupus rash 33 HP:0007417
17 eczematoid dermatitis 33 HP:0000976
18 absence of bactericidal oxidative respiratory burst in phagocytes 33 HP:0002723
19 recurrent e. coli infections 33 HP:0002740
20 recurrent serratia marcescens infections 33 HP:0002741
21 recurrent klebsiella infections 33 HP:0002742
22 recurrent burkholderia cepacia infections 33 HP:0002842
23 impaired oxidative burst 33 HP:0003203

Symptoms via clinical synopsis from OMIM:

58
Abdomen Spleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
Skin Nails Hair Skin:
eczematoid dermatitis
dermatitis, infectious, due to immunodeficiency impetigo
discoid lupus in carriers or adults with mild disease

Abdomen Gastrointestinal:
perirectal abscesses due to immunodeficiency

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Laboratory Abnormalities:
decreased activity of nadph oxidase
negative nitroblue tetrazolium (nbt) reduction test
presence of cytochrome b(-245)
deficiency or absence of p47-phox protein (type i)

Respiratory Lung:
pneumonia due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

Clinical features from OMIM:

233700

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 I

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

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

# Genetic test Affiliating Genes
1 Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 1 30 NCF1

Anatomical Context for Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome...

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

42
Neutrophil, Skin, Liver, Bone, Testes, B Lymphoblasts

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

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

# Title Authors Year
1
Alu repeat-induced deletions in chronic granulomatous disease: a cause not only for p67-phox, but also for p47-phox deficiency. ( 23274354 )
2013
2
Chronic granulomatous disease caused by mutations other than the common GT deletion in NCF1, the gene encoding the p47phox component of the phagocyte NADPH oxidase. ( 16972229 )
2006
3
The PX domains of p47phox and p40phox bind to lipid products of PI(3)K. ( 11433300 )
2001
4
Autosomal recessive chronic granulomatous disease caused by defects in NCF-1, the gene encoding the phagocyte p47-phox: mutations not arising in the NCF-1 pseudogenes. ( 11133775 )
2001
5
Recombination events between the p47-phox gene and its highly homologous pseudogenes are the main cause of autosomal recessive chronic granulomatous disease. ( 10706888 )
2000
6
[Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47-phox deficiency]. ( 11008352 )
2000
7
A p47-phox pseudogene carries the most common mutation causing p47-phox- deficient chronic granulomatous disease. ( 9329953 )
1997
8
Homologous dinucleotide (GT or TG) deletion in Japanese patients with chronic granulomatous disease with p47-phox deficiency. ( 8147881 )
1994
9
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. ( 7678602 )
1993
10
Autosomal recessive chronic granulomatous disease caused by deletion at a dinucleotide repeat. ( 2011585 )
1991

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

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

76
# Symbol AA change Variation ID SNP ID
1 NCF1 p.Arg42Gln VAR_012476 rs119103270

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

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCF1 NM_000265.5(NCF1): c.75_76del (p.Tyr26Hisfs) deletion Pathogenic rs4029402 GRCh37 Chromosome 7, 74191615: 74191616
2 NCF1 NM_000265.5(NCF1): c.75_76del (p.Tyr26Hisfs) deletion Pathogenic rs4029402 GRCh38 Chromosome 7, 74777269: 74777270
3 NCF1 NM_000265.5(NCF1): c.502delG (p.Glu168Argfs) deletion Pathogenic GRCh37 Chromosome 7, 74197332: 74197332
4 NCF1 NM_000265.5(NCF1): c.502delG (p.Glu168Argfs) deletion Pathogenic GRCh38 Chromosome 7, 74782989: 74782989
5 NCF1 NM_000265.5(NCF1): c.125G> A (p.Arg42Gln) single nucleotide variant Pathogenic rs119103270 GRCh37 Chromosome 7, 74191665: 74191665
6 NCF1 NM_000265.5(NCF1): c.125G> A (p.Arg42Gln) single nucleotide variant Pathogenic rs119103270 GRCh38 Chromosome 7, 74777319: 74777319
7 NCF1 NM_000265.5(NCF1): c.811delG (p.Val271Serfs) deletion Pathogenic GRCh38 Chromosome 7, 74787994: 74787994
8 NCF1 NM_000265.5(NCF1): c.811delG (p.Val271Serfs) deletion Pathogenic GRCh37 Chromosome 7, 74202338: 74202338
9 NCF1 NM_000265.5(NCF1): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs119103271 GRCh37 Chromosome 7, 74193644: 74193644
10 NCF1 NM_000265.5(NCF1): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs119103271 GRCh38 Chromosome 7, 74779298: 74779298
11 NCF1 NM_000265.5(NCF1): c.333T> A (p.Cys111Ter) single nucleotide variant Pathogenic rs119103272 GRCh37 Chromosome 7, 74193706: 74193706
12 NCF1 NM_000265.5(NCF1): c.333T> A (p.Cys111Ter) single nucleotide variant Pathogenic rs119103272 GRCh38 Chromosome 7, 74779360: 74779360
13 NCF1 NM_000265.5(NCF1): c.574G> A (p.Gly192Ser) single nucleotide variant Pathogenic rs119103273 GRCh37 Chromosome 7, 74197404: 74197404
14 NCF1 NM_000265.5(NCF1): c.574G> A (p.Gly192Ser) single nucleotide variant Pathogenic rs119103273 GRCh38 Chromosome 7, 74783061: 74783061
15 NCF1 NM_000265.5(NCF1): c.579G> A (p.Trp193Ter) single nucleotide variant Pathogenic rs145360423 GRCh37 Chromosome 7, 74197872: 74197872
16 NCF1 NM_000265.5(NCF1): c.579G> A (p.Trp193Ter) single nucleotide variant Pathogenic rs145360423 GRCh38 Chromosome 7, 74783529: 74783529
17 NCF1 NM_000265.5(NCF1): c.108G> A (p.Ser36=) single nucleotide variant Uncertain significance GRCh37 Chromosome 7, 74191648: 74191648
18 NCF1 NM_000265.5(NCF1): c.108G> A (p.Ser36=) single nucleotide variant Uncertain significance GRCh38 Chromosome 7, 74777302: 74777302

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 I.

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

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

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

# Name GO ID Score Top Affiliating Genes
1 protein glycosylation GO:0006486 8.62 ALG3 PMM2

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

# Name GO ID Score Top Affiliating Genes
1 isomerase activity GO:0016853 8.62 ISYNA1 PMM2

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