Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I; Cdg1
Genes related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I; Cdg1
- NCF1
Clinical Features
Top most frequent phenotypes and symptoms related to Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I; Cdg1
- Hepatomegaly
- Splenomegaly
- Immunodeficiency
- Pneumonia
- Lymphadenopathy
- Recurrent pneumonia
- Recurrent skin infections
- Osteomyelitis
- Cellulitis
- Eczematoid dermatitis
And another 15 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I; Cdg1 Is also known as cgd, autosomal recessive cytochrome b-positive, type i, neutrophil cytosol factor 1, deficiency of, soc2, deficiency of, p47-phox, deficiency of, soluble oxidase component ii, deficiency of, ncf1, deficiency of, granulomatous disease, chronic, due to ncf1 defic.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Granulomatous Disease, Chronic, Autosomal Recessive, Cytochrome B-positive, Type I; Cdg1 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
CYBB, NCF1
Specificity
50 %
Genes
100 % |
![]() By ARUP Laboratories, Molecular Genetics and Genomics (United States).
NCF1
Specificity
100 %
Genes
100 % |
![]() By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).
NCF1
Specificity
100 %
Genes
100 % |
![]() By Centogene AG - the Rare Disease Company (Germany).
CYBA, CYBB, NCF1, NCF2, NCF4
Specificity
20 %
Genes
100 % |
![]() By CeGaT GmbH (Germany).
STAT1, TAZ, TCIRG1, TCN2, TERT, WAS, WIPF1, ACTB, VPS45, HPS3, HPS4, HAX1, HPS5, DTNBP1, CEBPE, HPS6, SBDS, SLC35C1, BLOC1S3, VPS13B , (...)
View the complete list with 39 more genes
Specificity
2 %
Genes
100 % |
![]() By Department of Clinical Immunology Odense University Hospital (Denmark).
CYBA, NCF1, NCF2, NCF4
Specificity
25 %
Genes
100 % |
![]() By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases (Spain).
NCF1
Specificity
100 %
Genes
100 % |
![]() By Blueprint Genetics (Finland).
RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)
View the complete list with 253 more genes
Specificity
1 %
Genes
100 % |
You can get up to 8 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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