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Proteasome-associated autoinflammatory syndrome

Disease definition

A rare, autosomal recessive autoinflammatory disorder characterized by early-onset erythematous popular/nodular skin eruptions, recurrent fever, possible joint contractures, lipodystrophy, erythematous inflammatory skin changes, joint and muscle involvement (joint contractures, arthralgia, muscle weakness), and hepatosplenomegaly.

ORPHA:324977

Classification level: Disorder
  • Synonym(s):
    • ALDD syndrome
    • Autoinflammation-lipodystrophy-dermatosis syndrome
    • PRAAS
    • Proteasome disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood, Infancy, Neonatal
  • ICD-10: D89.8
  • OMIM: 256040  617591  618048  619175  619183
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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