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| Term | proteasome-associated autoinflammatory syndrome 1 | ID (Ontology) | DOID:0050553 (Human Disease) |
| 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. | ||
| Also Known As | "CANDLE" ; "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" ; "JMP syndrome" (for all, see Synonyms field below) | ||
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| DO.org | |||
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| Records annotated with this term OR any of its CHILD TERMS | |||
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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autosomal genetic disease |__autosomal recessive disease______________________ autoinflammatory disease | |__proteosome-associated autoinflammatory syndrome__| polygenic disease | |__digenic disease__________________________________| proteasome-associated autoinflammatory syndrome 1 2 rec. |
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autosomal recessive disease proteosome-associated autoinflammatory syndrome digenic disease |
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GARD:10988 GARD:3916 GARD:3917 MIM:256040 ORDO:324999 |
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