CLEC7A gene related symptoms and diseases
All the information presented here about the CLEC7A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to CLEC7A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Immunodeficiency | Common - Between 50% and 80% cases |
| Onychomycosis | Common - Between 50% and 80% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Lichenification | Uncommon - Between 30% and 50% cases |
| Abnormality of vision | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with CLEC7A 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
- Chronic mucocutaneous candidiasis
- Abnormal vagina morphology
- Recurrent fungal infections
And 36 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CLEC7A gene
Here you will find a list of rare diseases related to the CLEC7A. 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
CANDIDIASIS, FAMILIAL, 4; CANDF4
Alternate names
CANDIDIASIS, FAMILIAL, 4; CANDF4 Is also known as candidiasis, familial chronic mucocutaneous
Most common symptoms of CANDIDIASIS, FAMILIAL, 4; CANDF4
- Immunodeficiency
- Onychomycosis
- Recurrent vulvovaginal candidiasis
More info about CANDIDIASIS, FAMILIAL, 4; CANDF4
SOURCES: OMIM
ASPERGILLOSIS, SUSCEPTIBILITY TO
Description
Aspergillus species are ubiquitous in nature and cause a wide spectrum of diseases, including saprophytic colonization of existing cavities (aspergilloma), allergic asthma, hypersensitivity pneumonitis, allergic bronchopulmonary aspergillosis, and disseminated disease associated with high mortality rates in patients with hematologic malignancies and recipients of solid organs and stem cell transplantations. Immunocompetent and nonatopic individuals are relatively resistant to infection, and disease occurs in the setting of host damage. Association of persistent inflammation with intractable infection is common in nonneutropenic patients after hematopoietic stem cell transplantation, as well as in allergic fungal diseases. The pathophysiology underlying Aspergillus infection highlights the bipolar nature of the inflammatory process in infection, in which early inflammation prevents or limits infection, but an uncontrolled response may oppose disease eradication (summary by Cunha et al., 2010).For information on familial occurrence of allergic bronchopulmonary aspergillosis, see {103920}.
Most common symptoms of ASPERGILLOSIS, SUSCEPTIBILITY TO
- Asthma
- Hypersensitivity pneumonitis
More info about ASPERGILLOSIS, SUSCEPTIBILITY TO
SOURCES: OMIM
Search interest in CLEC7A
Potential gene panels for CLEC7A gene
Candidiasis, familial 4 AR (sequence analysis of CLEC7A gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the CLEC7A 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.
CLEC7A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CLEC7A gene.
More info about this panel United States.
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