proteasome-associated autoinflammatory syndrome 1 Disease Ontology Browser

Disease Ontology Browser

proteasome-associated autoinflammatory syndrome 1 (DOID:0050553)
Alliance: disease page
Synonyms: CANDLE; chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome; JMP syndrome; JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY; Nakajo-Nishimura syndrome; NKJO; PRAAS1
Alt IDs: OMIM:256040, ORDO:324999
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 or compound heterozygous mutation in the PSMB8 gene on chromosome 6p21. Digenic forms of PRAAS1 can be caused by heterozygous mutation in the PSMB8 gene and heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 on chromosome 1q21.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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