FCN3 gene related symptoms and diseases
All the information presented here about the FCN3 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 FCN3 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Microcephaly | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Ventricular septal defect | Very Common - Between 80% and 100% cases |
| Immunodeficiency | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with FCN3 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Recurrent infections
- Pneumonia
- Nephropathy
- Nephrotic syndrome
- Recurrent skin infections
- Recurrent lower respiratory tract infections
- Verrucae
- Enterocolitis
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FCN3 gene
Here you will find a list of rare diseases related to the FCN3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY
Alternate names
IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY Is also known as fcn3 deficiency, lectin complement activation pathway, defect in, 3, lcapd3
Description
Immunodeficiency due to ficolin3 deficiency is a rare, genetic, immunodeficiency due to a complement cascade protein anomaly characterized by low or undetectable serum ficolin3 levels, susceptibility to infections, and possibly autoimmunity. The presentation is variable, from perinatal necrotizing enterocolitis and recurrent skin infections with Staphylococcus aureus to childhood-onset recurrent pulmonary infections leading to brain abscesses and pulmonary fibrosis, to membranous nephropathy. In some patients, clinical consequences of ficolin3 deficiency were not clear.
Most common symptoms of IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY
- Intellectual disability
- Microcephaly
- Growth delay
- Ventricular septal defect
- Immunodeficiency
More info about IMMUNODEFICIENCY DUE TO FICOLIN3 DEFICIENCY
Search interest in FCN3
Potential gene panels for FCN3 gene
FCN3 Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FCN3 gene.
More info about this panel United States.
FCN3 Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FCN3 gene.
More info about this panel United States.
Complement deficiencies Panel Panel
Germany.
By CeGaT GmbH Complement deficiencies Panel that also includes the following genes: CFB THBD SERPING1 C1QA C1QB C1QC C1R C1S C2 C3
More info about this panel Germany.
FCN3 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FCN3 gene.
More info about this panel United States.
Complement System Disorder Panel Panel
Finland.
By Blueprint Genetics Complement System Disorder Panel that also includes the following genes: CFB SPAG1 THBD SERPING1 RSPH1 C1QA C1QB C1QBP C1QC C1S
More info about this panel Finland.
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