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
Search interest in FCGR3A
Potential gene panels for FCGR3A gene
Syndromes with immunodeficiency Panel Panel
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 panelFCGR3A Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FCGR3A gene.
More info about this panelTempus xT assay Panel
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 panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like BUB1B FUCA1 PTPRC REEP1 HERC2 CD164 HAAO