DNASE1 gene related symptoms and diseases
All the information presented here about the DNASE1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to DNASE1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nephritis | Very Common - Between 80% and 100% cases |
| Systemic lupus erythematosus | Very Common - Between 80% and 100% cases |
| Malar rash | Uncommon - Between 30% and 50% cases |
| Autoimmune thrombocytopenia | Uncommon - Between 30% and 50% cases |
| Rheumatoid arthritis | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with DNASE1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of coagulation
- Increased antibody level in blood
- Abnormality of the thyroid gland
- Autoimmune hemolytic anemia
- Pericarditis
- Thyroiditis
- Aseptic necrosis
- Complement deficiency
And 29 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to DNASE1 gene
Here you will find a list of rare diseases related to the DNASE1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SYSTEMIC LUPUS ERYTHEMATOSUS
Alternate names
SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as disseminated lupus erythematosus, sle
Description
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008).
Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS
- Seizures
- Short stature
- Cognitive impairment
- Anemia
- Fatigue
More info about SYSTEMIC LUPUS ERYTHEMATOSUS
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
Alternate names
AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS Is also known as autosomal sle, familial systemic lupus erythematosus, familial sle
Description
Autosomal systemic lupus erythematosus is a rare, genetic, multisystemic, chronic autoimmune disease characterized by the presence of systemic lupus erythematosus symptoms in two or more members of a single family. Patients present a wide spectrum of clinical manifestations, including cutaneous (malar rash, photosensitivity), ocular (keratoconjunctivitis sicca, retinopathy), gastrointestinal (oral ulceration, abdominal pain), cardiac (atherosclerosis, chest pain), pulmonary (serositis, pleurisy), musculoskeletal (arthralgia, myalgia), renal (nephritis, hematuria), obstetrical (increased spontaneous abortions, neonatal lupus), constitutional (fatigue, loss of appetite) and neuropsychiatric (mood and cognitive disorders) involvement, among others.
Most common symptoms of AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
- Systemic lupus erythematosus
- Nephritis
More info about AUTOSOMAL SYSTEMIC LUPUS ERYTHEMATOSUS
Search interest in DNASE1
Potential gene panels for DNASE1 gene
DNASE1. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the DNASE1 gene.
More info about this panel Spain.
Systemic lupus erythematosus (sequence analysis of DNASE1 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the DNASE1 gene.
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Systemic lupus erythematosus Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the DNASE1 gene.
More info about this panel Germany.
DNASE1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the DNASE1 gene.
More info about this panel United States.
Systemic lupus erythematosus susceptibility to Panel
Spain.
By Bioarray
This panel specifically test the DNASE1 gene.
More info about this panel Spain.
Systemic Lupus Erythematosus, Sequencing DNASE1 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the DNASE1 gene.
More info about this panel Spain.
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