CGD1
MCID: GRN049
MIFTS: 35

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 57
Chronic Granulomatous Disease Due to Deficiency of Ncf-1 57 12 13
Chronic Granulomatous Disease, Autosomal Recessive Cytochrome B-Positive, Type 1 29 6
Autosomal Recessive Chronic Granulomatous Disease Cytochrome B-Positive Type I 12 15
Deficiency of Neutrophil Cytosol Factor 1 12 75
Cdg1 57 12
Chronic Granulomatous Disease Autosomal Recessive Cytochrome B-Positive Type I 75
Granulomatous Disease, Chronic, Cytochrome-B-Positive 1, Autosomal Recessive 75
Cgd, Autosomal Recessive Cytochrome B-Positive, Type I 57
Granulomatous Disease, Chronic, Due to Ncf1 Deficiency 57
Chronic Granulomatous Disease Due to Ncf1 Deficiency 75
Soluble Oxidase Component Ii, Deficiency of 57
Neutrophil Cytosol Factor 1, Deficiency of 57
Deficiency of Soluble Oxidase Component Ii 12
Soluble Oxidase Component Ii Deficiency 75
P47-Phox, Deficiency of 57
Deficiency of P47-Phox 12
Ncf1, Deficiency of 57
Soc2, Deficiency of 57
P47-Phox Deficiency 75
Deficiency of Ncf1 12
Deficiency of Soc2 12
Ncf1 Deficiency 75
Soc2 Deficiency 75
Cgd1 75

Characteristics:

OMIM:

57
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:

32
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 : 75 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 testes, 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 23)
# Description HPO Frequency HPO Source Accession
1 splenomegaly 32 HP:0001744
2 hepatomegaly 32 HP:0002240
3 immunodeficiency 32 HP:0002721
4 osteomyelitis 32 HP:0002754
5 recurrent pneumonia 32 HP:0006532
6 cellulitis 32 HP:0100658
7 liver abscess 32 HP:0100523
8 lymphadenopathy 32 HP:0002716
9 recurrent bacterial skin infections 32 HP:0005406
10 granulomatosis 32 HP:0002955
11 recurrent aspergillus infections 32 HP:0002724
12 rectal abscess 32 HP:0005224
13 decreased activity of nadph oxidase 32 HP:0003206
14 lymphadenitis 32 HP:0002840
15 eczematoid dermatitis 32 HP:0000976
16 recurrent staphylococcus aureus infections 32 HP:0002726
17 discoid lupus rash 32 HP:0007417
18 absence of bactericidal oxidative respiratory burst in phagocytes 32 HP:0002723
19 recurrent e. coli infections 32 HP:0002740
20 recurrent serratia marcescens infections 32 HP:0002741
21 recurrent klebsiella infections 32 HP:0002742
22 recurrent burkholderia cepacia infections 32 HP:0002842
23 negative nitroblue tetrazolium reduction test 32 HP:0003203

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 29 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:

41
Neutrophil, Skin, Testes, Liver, Bone

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
[Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47-phox deficiency]. ( 11008352 )
2000

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:

75
# 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 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 NCF1 NM_000265.5(NCF1): c.75_76delGT (p.Tyr26Hisfs) deletion Pathogenic rs273585651 GRCh37 Chromosome 7, 74191615: 74191616
2 NCF1 NM_000265.5(NCF1): c.75_76delGT (p.Tyr26Hisfs) deletion Pathogenic rs273585651 GRCh38 Chromosome 7, 74777269: 74777270
3 NCF1 NCF1, 1-BP DEL, 502G deletion Pathogenic
4 NCF1 NM_000265.5(NCF1): c.125G> A (p.Arg42Gln) single nucleotide variant Pathogenic rs119103270 GRCh37 Chromosome 7, 74191665: 74191665
5 NCF1 NM_000265.5(NCF1): c.125G> A (p.Arg42Gln) single nucleotide variant Pathogenic rs119103270 GRCh38 Chromosome 7, 74777319: 74777319
6 NCF1 NCF1, 1-BP DEL, NT811 deletion Pathogenic
7 NCF1 NM_000265.5(NCF1): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs119103271 GRCh37 Chromosome 7, 74193644: 74193644
8 NCF1 NM_000265.5(NCF1): c.271C> T (p.Gln91Ter) single nucleotide variant Pathogenic rs119103271 GRCh38 Chromosome 7, 74779298: 74779298
9 NCF1 NM_000265.5(NCF1): c.333T> A (p.Cys111Ter) single nucleotide variant Pathogenic rs119103272 GRCh37 Chromosome 7, 74193706: 74193706
10 NCF1 NM_000265.5(NCF1): c.333T> A (p.Cys111Ter) single nucleotide variant Pathogenic rs119103272 GRCh38 Chromosome 7, 74779360: 74779360
11 NCF1 NM_000265.5(NCF1): c.574G> A (p.Gly192Ser) single nucleotide variant Pathogenic rs119103273 GRCh37 Chromosome 7, 74197404: 74197404
12 NCF1 NM_000265.5(NCF1): c.574G> A (p.Gly192Ser) single nucleotide variant Pathogenic rs119103273 GRCh38 Chromosome 7, 74783061: 74783061

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

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

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