Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 12-01-2011
Symbol JCMP
Location 6p21.32
Name joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy
Other name(s)
  • Nakajo-Nishimura syndrome
  • Corresponding gene PSMB8
    Other symbol(s) JMP, NKJO, NNS
    Main clinical features
  • autoinflammatory syndrome characterized by joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy
  • usually begins in early infancy with a pernio-like rash
  • lipodystrophy affected the face, arms, and thorax initially and more severely than the abdomen and lower extremities, which were affected later
  • hepato-splenomegaly and hypergammaglobulinemia; joint contractures initially affected the hands and feet, which were more severely deformed than the other joints
  • Genetic determination autosomal recessive
    Function/system disorder hematology
    neuromuscular
    Type disease
    Remark(s) . loss-of-function mutation leading to reduced chymotrypsin-like proteasomal activity