Orphanet: Autosomal systemic lupus erythematosus

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Autosomal systemic lupus erythematosus

Disease definition

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: C4750787
MeSH: -
GARD: -
MedDRA: -

Detailed information

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Article for general public
Deutsch (2017, pdf) - ACHSE

Guidelines

Clinical practice guidelines
Français (2017) - PNDS
Français (2022) - PNDS

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Autosomal systemic lupus erythematosus

ORPHA:300345

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018)

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