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GENATLAS PHENOTYPE

last update : 30-09-2011

Symbol	AGS5
Location	20q11.23
Name	Aicardi-Goutières syndrome 5
Corresponding gene	SAMHD1
Main clinical features	encephalopathy whose clinical importance is magnified because it closely mimics (and hence is often misdiagnosed as) the sequelae of congenital infection cerebral atrophy, leukodystrophy, intracranial calcifications, chronic . cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections early death in any cases arthropathy with progressive contractures
Genetic determination	autosomal recessive
Function/system disorder	neurology
Type	disease

Remark(s)

failure to dispose of endogenous nucleic acid debris in Aicardi-Goutières syndrome results in inappropriate triggering of innate immune responses via cytosolic nucleic acids sensors (PMID: 21720370))