Disease - Aicardi-Goutieres syndrome 6
- DefinitionA form of Aicardi-Goutieres syndrome, a genetically heterogeneous disease characterized by cerebral atrophy, leukoencephalopathy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infection. Clinical features as thrombocytopenia, hepatosplenomegaly and elevated hepatic transaminases along with intermittent fever may erroneously suggest an infective process. Severe neurological dysfunctions manifest in infancy as progressive microcephaly, spasticity, dystonic posturing and profound psychomotor retardation. Death often occurs in early childhood.
- AcronymAGS6
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Browse 1 entry- Double-stranded RNA-specific adenosine deaminase · Gene: ADAR (ADAR1, DSRAD, G1P1, IFI4) · Homo sapiens (Human) · EC:3.5.4.37 · 1226 amino acids · Evidence at protein level · Annotation score: 5/5