CARD9 gene related symptoms and diseases

All the information presented here about the CARD9 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to CARD9 gene

Symptoms // Phenotype % Cases
Seizures Uncommon - Between 30% and 50% cases
Chronic mucocutaneous candidiasis Uncommon - Between 30% and 50% cases
Abnormality of dental enamel Uncommon - Between 30% and 50% cases
Abnormality of the fingernails Uncommon - Between 30% and 50% cases
Abnormality of vision Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with CARD9 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Abnormality of the immune system
  • Abnormality of blood and blood-forming tissues
  • Hemoptysis
  • Abnormality of the mouth
  • Abnormal toenail morphology
  • Abnormal vagina morphology
  • Meningitis
  • Lichenification

And 33 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to CARD9 gene

Here you will find a list of rare diseases related to the CARD9. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


PREDISPOSITION TO INVASIVE FUNGAL DISEASE DUE TO CARD9 DEFICIENCY


Alternate names

PREDISPOSITION TO INVASIVE FUNGAL DISEASE DUE TO CARD9 DEFICIENCY Is also known as invasive candidiasis-deep dermatophytosis syndrome


More info about PREDISPOSITION TO INVASIVE FUNGAL DISEASE DUE TO CARD9 DEFICIENCY

SOURCES: ORPHANET

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


Potential gene panels for CARD9 gene

CARD9 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 CARD9 gene.

More info about this panel

CARD9 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 CARD9 gene.

More info about this panel

Candidiasis, familial 2 AR (sequence analysis of CARD9 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the CARD9 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

CARD9 Panel

Netherlands.

By Genome Diagnostics Laboratory University Medical Center Utrecht

This panel specifically test the CARD9 gene.

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 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

CARD9 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CARD9 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


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