NLM Logo

Aicardi-Goutieres syndrome MeSH Supplementary Concept Data 2023


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
Registry Number
0
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 Preferred
Pseudo-TORCH syndrome Related
Aicardi-Goutieres Syndrome 1 Narrower
Aicardi-Goutieres Syndrome 2 Related
page delivered in 0.007s