Aicardi-Goutieres syndrome

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

Also Known As:

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

Nervous System Diseases: 14737
- Autoimmune Diseases of the Nervous System: 1576
  - Aicardi-Goutieres syndrome: 38
- Nervous System Malformations: 36
  - Aicardi-Goutieres syndrome: 38
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 960
- Congenital Abnormalities: 26404
  - Nervous System Malformations: 36
    - Aicardi-Goutieres syndrome: 38
Immune System Diseases: 4430
- Autoimmune Diseases: 35458
  - Autoimmune Diseases of the Nervous System: 1576
    - Aicardi-Goutieres syndrome: 38

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Disease

Drug/Important Bio-Agent (IBA)