FCGR3A gene related symptoms and diseases

All the information presented here about the FCGR3A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to FCGR3A gene

Symptoms // Phenotype % Cases
Immunodeficiency Very Common - Between 80% and 100% cases
Otitis media Very Common - Between 80% and 100% cases
Recurrent otitis media Very Common - Between 80% and 100% cases
Sinusitis Very Common - Between 80% and 100% cases
Recurrent sinusitis Very Common - Between 80% and 100% cases

Rare diseases associated to FCGR3A gene

Here you will find a list of rare diseases related to the FCGR3A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY


Alternate names

AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY Is also known as autosomal recessive primary immunodeficiency with defective spontaneous nk cell cytotoxicity, cd16 deficiency

Description

Immunodeficiency-20 is a rare autosomal recessive primary immunodeficiency characterized by functional deficiency of NK cells. Patient NK cells are defective in spontaneous cell cytotoxicity, but retain antibody-dependent cellular cytotoxicity. Patients typically present early in childhood with severe herpes viral infections, particularly Epstein Barr virus (EBV), and human papillomavirus (HPV) (summary by Grier et al., 2012).

Most common symptoms of AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY

  • Immunodeficiency
  • Otitis media
  • Recurrent otitis media
  • Sinusitis
  • Recurrent sinusitis


More info about AUTOSOMAL RECESSIVE PRIMARY IMMUNODEFICIENCY WITH DEFECTIVE SPONTANEOUS NATURAL KILLER CELL CYTOTOXICITY

SOURCES: OMIM ORPHANET


Potential gene panels for FCGR3A gene

Syndromes with immunodeficiency Panel Panel

Germany.

By CeGaT GmbH Syndromes with immunodeficiency Panel that also includes the following genes: RMRP RUNX2 BLM SMARCAL1 STAT3 TBX1 TERC TERT TINF2 TREX1

More info about this panel

FCGR3A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the FCGR3A gene.

More info about this panel

Tempus xT assay Panel

United States.

By Tempus Labs, Inc. Tempus xT assay that also includes the following genes: BCL6 RIT1 BCL7A BCR ROS1 RPL5 RPS15 RPS6KB1 RUNX1 RXRA

More info about this panel


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