Aicardi-Goutieres Syndrome 1 (AGS1)

Alias:

Aicardi-Goutieres Syndrome 1, Dominant and Recessive

Pseudotoxoplasmosis Syndrome

Pseudo-Torch Syndrome

Cree Encephalitis

Ags1

Ags

Encephalopathy, Familial Infantile, with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis

Encephalopathy Familial Infantile with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis

Aicardi-Goutieres Syndrome, Type 1, Dominant and Recessive

Autosomal Dominant Aicardi-Goutieres Syndrome

Aicardi-Goutieres Syndrome 5

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Aicardi-Goutieres Syndrome 1, also known as pseudotoxoplasmosis syndrome, is related to aicardi-goutieres syndrome and chilblain lupus 1, and has symptoms including seizures, petechiae of skin and muscle spasticity. An important gene associated with Aicardi-Goutieres Syndrome 1 is TREX1 (Three Prime Repair Exonuclease 1), and among its related pathways/superpathways is Chks in Checkpoint Regulation. Affiliated tissues include eye and bone marrow, and related phenotypes are splenomegaly and spasticity

Related ID：

MALACARDS：ACR116

OMIM：225750

MESH：D009421