You are using an outdated browser. Please upgrade your browser to improve your experience.

Aicardi-Goutieres syndrome 7

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the IFIH1 gene.
Uniprot Description A 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.
Mondo Term and Equivalent IDs
MONDO:0014367:  Aicardi-Goutieres syndrome 7
UMLS:C3888244: