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.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

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). Genetic Heterogeneity of Systemic Lupus ErythematosusAn autosomal recessive form of systemic lupus erythematosus (SLEB16 ) is caused by mutation in the DNASE1L3 gene (OMIM ) on chromosome 3p14.3.See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.

Most common symptoms of SYSTEMIC LUPUS ERYTHEMATOSUS

  • Seizures
  • Short stature
  • Cognitive impairment
  • Anemia
  • Fatigue


More info about SYSTEMIC LUPUS ERYTHEMATOSUS

SOURCES: OMIM ORPHANET

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

SOURCES: OMIM ORPHANET


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

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

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

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

Systemic lupus erythematosus Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DNASE1 gene.

More info about this panel

DNASE1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DNASE1 gene.

More info about this panel

Systemic lupus erythematosus susceptibility to Panel

Spain.

By Bioarray

This panel specifically test the DNASE1 gene.

More info about this panel

Systemic Lupus Erythematosus, Sequencing DNASE1 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the DNASE1 gene.

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like PCDH9 CABP4 NDUFA4

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more