MCID: GRN049
MIFTS: 29

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

Categories: Genetic 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, Autosomal Recessive Cytochrome B-Positive, Type 1 29 6
Chronic Granulomatous Disease Due to Deficiency of Ncf-1 57 13
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 Neutrophil Cytosol Factor 1 75
Soluble Oxidase Component Ii Deficiency 75
P47-Phox, Deficiency of 57
Ncf1, Deficiency of 57
Soc2, Deficiency of 57
P47-Phox Deficiency 75
Ncf1 Deficiency 75
Soc2 Deficiency 75
Cdg1 57
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, autosomal recessive cytochrome b-positive, type 1, is related to epileptic encephalopathy, early infantile, 36 and congenital disorder of glycosylation, type io. An important gene associated with Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-Positive, Type I is NCF1 (Neutrophil Cytosolic Factor 1). Affiliated tissues include neutrophil, testes and liver, and related phenotypes are eczematoid dermatitis and splenomegaly

Description from OMIM: 233700

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 I via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 epileptic encephalopathy, early infantile, 36 11.1
2 congenital disorder of glycosylation, type io 10.9
3 chronic granulomatous disease 10.3
4 type i 10.2
5 congenital disorders of n-linked glycosylation and multiple pathway 10.2
6 williams-beuren syndrome 9.9
7 inflammatory bowel disease 9.9

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
AbdomenSpleen:
splenomegaly

Immunology:
lymphadenopathy
lymphadenitis
bacterial infections, recurrent
fungal infections, recurrent
absence of bactericidal oxidative 'respiratory burst' in phagocytes
more
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

Muscle Soft Tissue:
cellulitis due to immunodeficiency

Abdomen Liver:
hepatomegaly
hepatic abscesses due to immunodeficiency

Skeletal:
osteomyelitis due to immunodeficiency

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


Clinical features from OMIM:

233700

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

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

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, Testes, Liver, Skin, 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
Defining p47-phox deficient Chronic Granulomatous Disease in a Malay family. ( 23393912 )
2012
3
Therapeutic strategy in p47-phox deficient chronic granulomatous disease presenting as inflammatory bowel disease. ( 20371400 )
2010
4
[A case of Williams syndrome with p47-phox-deficient chronic granulomatous disease]. ( 14635404 )
2003
5
Mutational analysis of patients with p47-phox-deficient chronic granulomatous disease: The significance of recombination events between the p47-phox gene (NCF1) and its highly homologous pseudogenes. ( 11166463 )
2001
6
[Clinical and molecular characterization of autosomal recessive chronic granulomatous disease caused by p47-phox deficiency]. ( 11008352 )
2000
7
In vitro molecular reconstitution of the respiratory burst in B lymphoblasts from p47-phox-deficient chronic granulomatous disease. ( 7678602 )
1993

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...

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