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JMP syndrome

Disease definition

Joint contractures, muscle atrophy, microcytic anemia and panniculitis-induced lipodystrophy (JMP) syndrome is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group and characterized by sclerodermic skin with the presence of erythematous lesions, joint contractures, generalized or partial lipodystrophy, muscle atrophy and short stature.

ORPHA:324999

  • Synonym(s):
    • Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: -
  • OMIM: 256040
  • UMLS: -
  • MeSH: -
  • GARD: 10988
  • MedDRA: -

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