proteasome-associated autoinflammatory syndrome 1

Summary

DOID:0050553 - proteasome-associated autoinflammatory syndrome 1

Disease Ontology Definition:A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21.

Synonyms: CANDLE, JMP syndrome, JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY, NKJO, Nakajo-Nishimura syndrome, PRAAS1, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: psmb8

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0017959 - obsolete JMP syndrome

MONDO:0017959 - obsolete JMP syndrome

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), proteosome-associated autoinflammatory syndrome (is_a), syndrome (is_a)