Disease

Farber Disease

About the Disease
Farber Lipogranulomatosis, also known as farber disease, is related to lipogranulomatosis and spinal muscular atrophy with progressive myoclonic epilepsy, and has symptoms including painful swollen joints An important gene associated with Farber Lipogranulomatosis is ASAH1 (N-Acylsphingosine Amidohydrolase 1), and among its related pathways/superpathways are Metabolism and Sphingolipid metabolism. Affiliated tissues include skin, spleen and liver, and related phenotypes are arthritis and flexion contracture

Common Targets
NISCH | ASAH1 | UPK2 | Ceramidase (nonspecified subtype) | NPC1

疾病靶点研报
Farber Disease

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