Aicardi-Goutieres Syndrome (AGS)

Alias:

Aicardi-Goutières Syndrome

Encephalopathy with Basal Ganglia Calcification

Aicardi Goutieres Syndrome

Encephalopathy with Intracranial Calcification and Chronic Lymphocytosis of Cerebrospinal Fluid

Cree Encephalitis

Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis

Encephalopathy-Basal Ganglia-Calcification

Aicardi-Goutieres Syndrome 1

Pseudotoxoplasmosis Syndrome

Aicardi-Goutières Syndromes

Ags

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Aicardi-Goutieres Syndrome, also known as aicardi-goutières syndrome, is related to aicardi-goutieres syndrome 1 and aicardi-goutieres syndrome 2, and has symptoms including seizures and petechiae of skin. An important gene associated with Aicardi-Goutieres Syndrome is RNASEH2B (Ribonuclease H2 Subunit B), and among its related pathways/superpathways are Antiviral mechanism by IFN-stimulated genes and Toll-like receptor signaling pathway. The drugs Abacavir and Zidovudine have been mentioned in the context of this disorder. Affiliated tissues include brain and spinal cord, and related phenotypes are spasticity and global developmental delay

Related ID：

MALACARDS：ACR001