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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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

SOURCES: OMIM ORPHANET


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

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

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

FCN3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FCN3 gene.

More info about this panel

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


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NRXN2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more