Proteasome-Associated Autoinflammatory Syndrome 1 (PRAAS1)

Alias:

Nakajo-Nishimura Syndrome

Jmp Syndrome

Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature Syndrome

Autoinflammation, Lipodystrophy, and Dermatosis Syndrome

Nkjo

Joint Contractures, Muscular Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy

Proteasome-Associated Autoinflammatory Syndrome 1 and Digenic Forms

Nakajo Syndrome

Praas1

Candle

Aldd

Joint Contractures Muscular Atrophy Microcytic Anemia and Panniculitis-Induced Lipodystrophy

Japanese Autoinflammatory Syndrome with Lipodystrophy

Secondary Hypertrophic Osteoperiostosis with Pernio

Nodular Erythema with Digital Changes

Inflammation

Jasl

Nns

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Proteasome-Associated Autoinflammatory Syndrome 1, also known as nakajo-nishimura syndrome, is related to alopecia and familial mediterranean fever, and has symptoms including dyspepsia, meningism and polydipsia. An important gene associated with Proteasome-Associated Autoinflammatory Syndrome 1 is PSMB8 (Proteasome 20S Subunit Beta 8), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Amoxicillin and Formaldehyde have been mentioned in the context of this disorder. Affiliated tissues include skin and liver, and related phenotypes are flexion contracture and lipodystrophy

Related ID：

MALACARDS：PRT133

OMIM：256040

MESH：D007249