Disease

Aicardi-Goutieres Syndrome

About the Disease
Aicardi-Goutieres Syndrome, also known as aicardi goutieres syndrome, is related to aicardi-goutieres syndrome 4 and microcephaly, and has symptoms including seizures and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome is SAMHD1 (SAM And HD Domain Containing Deoxynucleoside Triphosphate Triphosphohydrolase 1), and among its related pathways/superpathways are Innate Immune System and Disease. The drugs Abacavir and Zidovudine have been mentioned in the context of this disorder. Affiliated tissues include brain, spinal cord and liver, and related phenotypes are global developmental delay and arrhinencephaly

Common Targets
OCEL1 | RNASEH2A | COL4A1 | CST9 | OCLN | RNASEH2C | WRN | SPTAN1 | LSM11 | SAMHD1 | IFIH1 | STING1 | TREX1 | RNASEH2B | DNA-Directed DNA Polymerase Complex | GLDC | Eukaryotic translation initiation factor 2B | ADAR | CGAS

疾病靶点研报
Aicardi-Goutieres Syndrome

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