Carney-Stratakis Syndrome

About the Disease
Paraganglioma and Gastric Stromal Sarcoma, also known as carney-stratakis syndrome, is related to hereditary paraganglioma-pheochromocytoma syndromes and mitochondrial complex ii deficiency, nuclear type 1. An important gene associated with Paraganglioma and Gastric Stromal Sarcoma is SDHD (Succinate Dehydrogenase Complex Subunit D), and among its related pathways/superpathways are "Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins." and Glucose / Energy Metabolism. The drugs Everolimus and Caffeine have been mentioned in the context of this disorder. Affiliated tissues include liver, skin and pancreas, and related phenotypes are gastrointestinal stroma tumor and paraganglioma

Common Targets
SDHB | SDHC | SDHD | SDHA

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