| Metadata | |
|---|---|
| ID | DOID:0050553 |
| Name | proteasome-associated autoinflammatory syndrome 1 |
| 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. https://pubmed.ncbi.nlm.nih.gov/21881205/, https://pubmed.ncbi.nlm.nih.gov/21852578/, https://pubmed.ncbi.nlm.nih.gov/21129723/, https://www.nomidalliance.org/candle.php |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CANDLE [EXACT] chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [EXACT] JMP syndrome [EXACT] JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY [EXACT] Nakajo-Nishimura syndrome [EXACT] NKJO [EXACT] PRAAS1 [EXACT] |
| Parent Relationships |
is_a digenic disease |
| Subclass Logical Relationships |
has material basis in some digenic inheritance has material basis in some autosomal recessive inheritance |