Aicardi-Goutieres Syndrome 7 (AGS7)

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OMIM 58 615846 MeSH 45 D009421 D020274 MedGen 43 C3888244 CN188935

SNOMED-CT via HPO 70 103252009 127388009 128613002 129646001 16294009 199612005 200775004 22033007 224958001 228156007 24079001 246545002 247578003 263681008 271611007 278849000 298282001 302215000 313307000 31996006 415116008 418143002 52254009 52522001 609225004 78164000 80515008 84757009 91138005 91175000 more UMLS 74 C3888244

OMIM : ⁵⁸ Aicardi-Goutieres syndrome-7 is an autosomal dominant inflammatory disorder characterized by severe neurologic impairment. Most patients present in infancy with delayed psychomotor development, axial hypotonia, spasticity, and brain imaging changes, including basal ganglia calcification, cerebral atrophy, and deep white matter abnormalities. Laboratory evaluation shows increased alpha-interferon (IFNA1; 147660) activity with upregulation of interferon signaling and interferon-stimulated gene expression. Some patients may have normal early development followed by episodic neurologic regression (summary by Rice et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (225750). (615846)

MalaCards based summary : Aicardi-Goutieres Syndrome 7, also known as ags7, is related to singleton-merten syndrome 1 and singleton-merten syndrome. An important gene associated with Aicardi-Goutieres Syndrome 7 is IFIH1 (Interferon Induced With Helicase C Domain 1). Affiliated tissues include brain and eye, and related phenotypes are abnormality of eye movement and seizures

UniProtKB/Swiss-Prot : ⁷⁶ Aicardi-Goutieres syndrome 7: 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.

Clinical features from OMIM:

615846

Search Clinical Trials , NIH Clinical Center for Aicardi-Goutieres Syndrome 7

Search GEO for disease gene expression data for Aicardi-Goutieres Syndrome 7.