Aicardi-Goutieres syndrome

Summary
Synonym
  • AGS
  • Cree encephalitis
Definition
A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections.
Super Class
autosomal genetic disease syndrome
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
1581 CYP7A1 cytochrome P450 family 7 subfamily A member 1
2572 GAD2 glutamate decarboxylase 2
2678 GGT1 gamma-glutamyltransferase 1
5743 PTGS2 prostaglandin-endoperoxide synthase 2
8277 TKTL1 transketolase like 1
51763 INPP5K inositol polyphosphate-5-phosphatase K
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P19440 Glutathione hydrolase 1 proenzyme
P35354 Prostaglandin G/H synthase 2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024