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.
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
Search interest in CARD9
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 United States.
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 United States.
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 Portugal.
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 Portugal.
CARD9 Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the CARD9 gene.
More info about this panel Netherlands.
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 Germany.
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 United States.
CARD9 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CARD9 gene.
More info about this panel United States.
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 Finland.
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 Spain.
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