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.

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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

SOURCES: OMIM ORPHANET

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


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

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

CLEC7A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the CLEC7A gene.

More info about this panel


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