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Autosomal systemic lupus erythematosus

Disease definition

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.

ORPHA:300345

Classification level: Disorder
  • Synonym(s):
    • Autosomal SLE
    • Familial SLE
    • Familial systemic lupus erythematosus
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: M32.8
  • OMIM: 614420
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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