NCF1 gene related symptoms and diseases
All the information presented here about the NCF1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NCF1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Hepatomegaly | Very Common - Between 80% and 100% cases |
| Liver abscess | Very Common - Between 80% and 100% cases |
| Splenomegaly | Very Common - Between 80% and 100% cases |
| Rectal abscess | Uncommon - Between 30% and 50% cases |
| Recurrent pneumonia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with NCF1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Recurrent skin infections
- Osteomyelitis
- Cellulitis
- Eczematoid dermatitis
- Granulomatosis
- Recurrent bacterial skin infections
- Discoid lupus rash
- Recurrent Serratia marcescens infections
And 31 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NCF1 gene
Here you will find a list of rare diseases related to the NCF1. 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
GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1
Alternate 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
Most common symptoms of GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1
- Hepatomegaly
- Splenomegaly
- Immunodeficiency
- Pneumonia
- Lymphadenopathy
More info about GRANULOMATOUS DISEASE, CHRONIC, AUTOSOMAL RECESSIVE, CYTOCHROME B-POSITIVE, TYPE I; CDG1
SOURCES: OMIM
Search interest in NCF1
Potential gene panels for NCF1 gene
Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Chronic Granulomatous Disease Panel (CYBB Sequencing and NCF1 Exon 2 GT Deletion) that also includes the following genes: CYBB NCF1
More info about this panel United States.
Chronic Granulomatous Disease (NCF1) Exon 2 GT Deletion Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics
This panel specifically test the NCF1 gene.
More info about this panel United States.
NCF1. Detection of homozygous mutation c.75_76delGT by sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the NCF1 gene.
More info about this panel Spain.
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.
Chronic granulomatous disease: NCF1 gene sequence analysis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the NCF1 gene.
More info about this panel Spain.
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 Panel
Spain.
By Bioarray
This panel specifically test the NCF1 gene.
More info about this panel Spain.
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.
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, Sequencing NCF1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the NCF1 gene.
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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