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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01741 |
Autoinflammation lipodystrophy and dermatosis syndrome Proteasome associated autoinflammatory syndromes (PRAAS) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) Japanese autoinflammatory syndrome with lipodystrophy (JASL) |
... and elevated temperature (CANDLE) syndrome are caused by mutations in proteasome subunit beta type 8 (PSMB8) gene, indicating that these disorders are disease phenotypes along the same disease spectrum. ... | Immune system disease | PSMB8 [HSA:5696] [KO:K02740] | |
| H02532 | Proteasome-associated autoinflammatory syndrome | Proteasome-associated autoinflammatory syndrome (PRAAS) is also known as Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE). PRAAS is a rare autoinflammatory ... | Immune system disease |
(PRAAS1) PSMB8 [HSA:5696] [KO:K02740] (PRAAS2) POMP [HSA:51371] [KO:K11599] (PRAAS3) PSMB4 [HSA:5692] [KO:K02736] (PRAAS3/PRAAS6) PSMB9 [HSA:5698] [KO:K02741] (PRAAS4) PSMG2 [HSA:56984] [KO:K11876] (PRAAS5) PSMB10 [HSA:5699] [KO:K02733] |
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