IL17RA gene related symptoms and diseases

All the information presented here about the IL17RA gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to IL17RA gene

Symptoms // Phenotype % Cases
Chronic mucocutaneous candidiasis Very Common - Between 80% and 100% cases
Immunodeficiency Very Common - Between 80% and 100% cases
Recurrent infections Very Common - Between 80% and 100% cases
Recurrent respiratory infections Very Common - Between 80% and 100% cases
Inflammatory abnormality of the skin Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with IL17RA gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Seizures
  • Broad nail
  • Abnormal vagina morphology
  • Lichenification
  • Cheilitis
  • Recurrent fungal infections
  • Abnormal endocardium morphology
  • Abnormality of temperature regulation

And 46 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to IL17RA gene

Here you will find a list of rare diseases related to the IL17RA. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHRONIC MUCOCUTANEOUS CANDIDIASIS


Alternate names

CHRONIC MUCOCUTANEOUS CANDIDIASIS Is also known as card9 immunodeficiency, candidiasis, familial chronic mucocutaneous, autosomal recessive, cmc

Description

Chronic mucocutaneous candidosis (CMC) refers to a group of heterogenous disorders characterized by persistent, debilitating and/or recurrent infections of the skin, nails, and mucus membranes, mainly with the fungal pathogen Candida albicans.

Most common symptoms of CHRONIC MUCOCUTANEOUS CANDIDIASIS

  • Seizures
  • Fever
  • Behavioral abnormality
  • Immunodeficiency
  • Headache


More info about CHRONIC MUCOCUTANEOUS CANDIDIASIS

SOURCES: OMIM ORPHANET

IMMUNODEFICIENCY 51; IMD51


Alternate names

IMMUNODEFICIENCY 51; IMD51 Is also known as candf5, formerly, candidiasis, familial, 5, formerly

Description

Immunodeficiency-51 is an autosomal recessive primary immune deficiency that is usually characterized by onset of chronic mucocutaneous candidiasis in the first years of life. Most patients also show recurrent Staphylococcal skin infections, and may show increased susceptibility to chronic bacterial respiratory infections. Patient cells show a lack of cellular responses to stimulation with certain IL17 isoforms, including IL17A (OMIM ), IL17F (OMIM ), IL17A/F, and IL17E (IL25 ) (summary by Levy et al., 2016).

Most common symptoms of IMMUNODEFICIENCY 51; IMD51

  • Immunodeficiency
  • Recurrent infections
  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory tract infection


More info about IMMUNODEFICIENCY 51; IMD51

SOURCES: OMIM


Potential gene panels for IL17RA gene

Candidiasis, familial 5 AR (sequence analysis of IL17RA gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the IL17RA gene.

More info about this panel

Candidiasis, familial (NGS panel for 5 genes) Panel

Portugal.

By CGC Genetics Candidiasis, familial (NGS panel for 5 genes) that also includes the following genes: TRAF3IP2 CLEC7A CARD9 IL17F IL17RA

More info about this panel

IL17RA Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the IL17RA gene.

More info about this panel

Candidiasis (CMC) panel Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht Candidiasis (CMC) panel that also includes the following genes: STAT1 TLR3 IL17F AIRE IL17RA IL2RA

More info about this panel

Defects in innate immunity Panel Panel

Germany.

By CeGaT GmbH Defects in innate immunity Panel that also includes the following genes: STAT1 TBK1 TLR3 TRAF3 TRAF3IP2 UNC93B1 CARD9 IL17F TIRAP IRAK4

More info about this panel

Invitae Chronic Mucocutaneous Candidiasis Panel Panel

United States.

By Invitae Invitae Chronic Mucocutaneous Candidiasis Panel that also includes the following genes: TRAF3IP2 IL17F IL17RC IL17RA

More info about this panel

Invitae Primary Immunodeficiency Panel Panel

United States.

By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2

More info about this panel

IL17RA Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the IL17RA gene.

More info about this panel

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

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

Tempus xO assay Panel

United States.

By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2

More info about this panel


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