MeSH Browser

MeSH Supplementary: Aicardi-Goutieres syndrome
Unique ID: C535607
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C535607
Entry Term(s): Aicardi Goutieres syndrome; Aicardi-Goutieres Syndrome 1; Aicardi-Goutieres Syndrome 2; Cree Encephalitis; Encephalopathy with Basal Ganglia Calcification; Familial Infantile Encephalopathy with Intracranial Calcification and Chronic Cerebrospinal Fluid Lymphocytosis; Pseudo-TORCH syndrome; Pseudotoxoplasmosis syndrome
Heading Mapped to: *Nervous System Malformations; *Autoimmune Diseases of the Nervous System
Frequency: 294
Note: An inherited encephalopathy, the most severe form of which is characterized by cerebral atrophy, leukodystrophy, intracranial calcifications, and chronic cerebrospinal fluid LYMPHOCYTOSIS. Although AGS presents similarly to in utero viral infection, patients are negative for prenatal infections . MICROCEPHALY and neurologic dysfunction occurs later in infancy. Other abnormalities include THROMBOCYTOPENIA, hepatosplenomegaly, elevated hepatic transaminases, and intermittent fever. Mutations in the TREX1, RNASEH2A, RNASEH2B, and RNASEH2C genes have been identified. OMIM: 225750
Date of Entry: 2010/06/25
Revision Date: 2019/03/29

Aicardi-Goutieres syndrome MeSH Supplementary Concept Data 2024