NCF4 gene related symptoms and diseases
All the information presented here about the NCF4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NCF4 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Fever | Very Common - Between 80% and 100% cases |
| Sinusitis | Very Common - Between 80% and 100% cases |
| Eczema | Very Common - Between 80% and 100% cases |
| Mediastinal lymphadenopathy | Uncommon - Between 30% and 50% cases |
| Abnormality of neutrophils | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NCF4 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Liver abscess
- Diarrhea
- Immunodeficiency
- Skin rash
- Hepatomegaly
- Inflammatory abnormality of the eye
- Colitis
- Recurrent sinusitis
And 19 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NCF4 gene
Here you will find a list of rare diseases related to the NCF4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CHRONIC GRANULOMATOUS DISEASE
Alternate names
CHRONIC GRANULOMATOUS DISEASE Is also known as chronic septic granulomatosis, cgd
Description
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency, mainly affecting phagocytes, which is characterized by an increased susceptibility to severe and recurrent bacterial and fungal infections, along with the development of granulomas.
Most common symptoms of CHRONIC GRANULOMATOUS DISEASE
- Hepatomegaly
- Fever
- Splenomegaly
- Recurrent respiratory infections
- Malabsorption
More info about CHRONIC GRANULOMATOUS DISEASE
SOURCES: ORPHANET
X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY
Alternate names
X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY Is also known as granulomatous disease, chronic, due to ncf4 deficiency, cgd, autosomal recessive cytochrome b-positive, type iii, x-linked msmd due to cybb deficiency
Description
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 ).
Most common symptoms of X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY
- Fever
- Diarrhea
- Immunodeficiency
- Skin rash
- Eczema
More info about X-LINKED MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASES DUE TO CYBB DEFICIENCY
Search interest in NCF4
Potential gene panels for NCF4 gene
Chronic Granulomatous Disease - NCF4 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the NCF4 gene.
More info about this panel United States.
Chronic granulomatous disease (sequence analysis of NCF4 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the NCF4 gene.
More info about this panel Portugal.
Chronic Granulomatous Disease via NCF4 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the NCF4 gene.
More info about this panel United States.
Chronic Granulomatous Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Chronic Granulomatous Disease Sequencing Panel with CNV Detection that also includes the following genes: CYBA CYBB NCF2 NCF4
More info about this panel United States.
Chronic granulomatous disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Chronic granulomatous disease panel that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4
More info about this panel Germany.
Defects of phagocytosis Panel Panel
Germany.
By CeGaT GmbH Defects of phagocytosis Panel that also includes the following genes: STAT1 TAZ TCIRG1 TCN2 TERT WAS WIPF1 ACTB VPS45 HPS3
More info about this panel Germany.
Chronic granulomatous disease, autosomal recessive (CGD) Panel
Denmark.
By Department of Clinical Immunology Odense University Hospital Chronic granulomatous disease, autosomal recessive (CGD) that also includes the following genes: CYBA NCF1 NCF2 NCF4
More info about this panel Denmark.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
Invitae Monogenic Inflammatory Bowel Disease Panel Panel
United States.
By Invitae Invitae Monogenic Inflammatory Bowel Disease Panel that also includes the following genes: SH2D1A BTK STAT1 STAT3 STIM1 STXBP2 CD40LG WAS ZAP70 AICDA
More info about this panel United States.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Phagocyte Defects Panel Panel
United States.
By Invitae Invitae Phagocyte Defects Panel that also includes the following genes: TAZ WAS VPS45 SPINK5 HAX1 CEBPE SLC35C1 VPS13B FERMT3 CSF2RA
More info about this panel United States.
Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
NCF4 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NCF4 gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Chronic Granulomatous Disease Panel Panel
Finland.
By Blueprint Genetics Chronic Granulomatous Disease Panel that also includes the following genes: CYBA CYBB G6PD NOD2 NCF1 NCF2 NCF4
More info about this panel Finland.
Chronic Granulomatous Disease NGS and Deletion/Duplication Panel Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children Chronic Granulomatous Disease NGS and Deletion/Duplication Panel that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4
More info about this panel United States.
NCF4 Gene Sequencing and Deletion/Duplication Analysis Panel
United States.
By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children
This panel specifically test the NCF4 gene.
More info about this panel United States.
CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) Panel
Spain.
By Laboratorio de Genetica Clinica SL CHRONIC GRANULOMATOUS DISEASE (AUTOSOMAL RECESSIVE) that also includes the following genes: CYBA NCF1 NCF2 NCF4
More info about this panel Spain.
CHRONIC GRANULOMATOUS DISEASE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CHRONIC GRANULOMATOUS DISEASE NGS PANEL that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4
More info about this panel Spain.
Chronic Granulomatous Disease, Panel Deletions-Duplications (MLPA) CYBA, CYBB, NCF2, NCF4 Genes Panel
Spain.
By Reference Laboratory Genetics Chronic Granulomatous Disease, Panel Deletions-Duplications (MLPA) CYBA, CYBB, NCF2, NCF4 Genes that also includes the following genes: CYBA CYBB NCF2 NCF4
More info about this panel Spain.
Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Chronic Granulomatous Disease, Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: CYBA CYBB NCF1 NCF2 NCF4
More info about this panel Spain.
Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes Panel
Spain.
By Reference Laboratory Genetics Inflammatory Bowel Disease (IBD) and Related Disorders , Panel Massive Sequencing (NGS) 46 Genes that also includes the following genes: SH2D1A STXBP2 TERC TERT TGFB1 TINF2 CD40LG WAS WIPF1 CARD9
More info about this panel Spain.
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