DNASE1L3 gene related symptoms and diseases

All the information presented here about the DNASE1L3 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 DNASE1L3 gene

Symptoms // Phenotype % Cases
Nephritis Very Common - Between 80% and 100% cases
Seizures Uncommon - Between 30% and 50% cases
Pericardial effusion Uncommon - Between 30% and 50% cases
Joint dislocation Uncommon - Between 30% and 50% cases
Cranial nerve paralysis Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with DNASE1L3 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Cerebral palsy
  • Reduced tendon reflexes
  • Urticaria
  • Pleural effusion
  • Hemiplegia/hemiparesis
  • Emphysema
  • Restrictive ventilatory defect
  • Abnormal heart valve morphology

And 40 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to DNASE1L3 gene

Here you will find a list of rare diseases related to the DNASE1L3. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS


Alternate names

HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS Is also known as mac duffie syndrome, mac duffie hypocomplementemic urticarial vasculitis, anti-c1q vasculitis, mcduffie hypocomplementemic urticarial vasculitis, mcduffie syndrome

Description

Hypocomplementemic urticarial vasculitis (HUV) is an immune complex-mediated small vessel vasculitis characterized by urticaria and hypocomplementemia (low C1q with or without low C3 and C4), and usually associated with circulating anti-C1q autoantibodies. Arthritis, pulmonary disease, ocular inflammation, and glomerulonephritis are common systemic manifestations.

Most common symptoms of HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

  • Seizures
  • Ataxia
  • Sensorineural hearing impairment
  • Pain
  • Peripheral neuropathy


More info about HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS

SOURCES: 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 DNASE1L3 gene

Systemic lupus erythematosus type 16 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the DNASE1L3 gene.

More info about this panel

Systemic lupus erythematosus 16: DNASE1L3 gene sequence analysis Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases

This panel specifically test the DNASE1L3 gene.

More info about this panel

DNASE1L3 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the DNASE1L3 gene.

More info about this panel


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