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Results 1 - 10 of 12 for Aicardi Goutieres syndrome 1
  1. Aicardi-Goutières syndrome 
    ... Registry: Aicardi-Goutieres syndrome 7 Genetic Testing Registry: Aicardi-Goutieres syndrome 1 Genetic Testing Registry: Aicardi-Goutieres syndrome 2 Genetic ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. TREX1 gene 
    ... back of the eye (the retina).As in Aicardi-Goutières syndrome, absence or impaired function of the 3-prime repair exonuclease 1 enzyme may cause immune system dysfunction that damages ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  3. RNASEH2B gene 
    ... Shaban NM, Hollis T. RNaseH2 mutants that cause Aicardi-Goutieres syndrome are active nucleases. J Mol Med (Berl). 2009 Jan;87(1):25-30. doi: 10.1007/s00109-008-0422- ...
    https://medlineplus.gov/genetics/gene/rnaseh2b - Genetics
  4. ADAR gene 
    ... problems that differ from those that occur in Aicardi-Goutières syndrome, and without the other signs and symptoms that occur in that disorder. 136 kDa double-stranded RNA-binding protein ADAR1 adenosine deaminase acting on RNA 1-A AGS6 DRADA DSH DSRAD dsRNA adenosine deaminase ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
  5. IFIH1 gene 
    ... Shirai T, Ohara O, Fujita T, Heike T. Aicardi-Goutieres syndrome is caused by IFIH1 mutations. Am J Hum Genet. 2014 Jul 3;95(1):121-5. doi: 10.1016/j.ajhg.2014. ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  6. SAMHD1 gene 
    ... systems that lead to the characteristic features of Aicardi-Goutières syndrome. More About This Health Condition AGS5 DCIP dendritic cell-derived IFNG-induced protein HDDC1 Mg11 monocyte protein 5 MOP-5 SAM domain and HD domain 1 SAM domain and HD domain-containing protein 1 ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  7. SCN9A gene 
    ... small fiber neuropathy. Ann Neurol. 2012 Jan;71(1):26-39. doi: 10.1002/ana.22485. Epub ... familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. ...
    https://medlineplus.gov/genetics/gene/scn9a - Genetics
  8. RNAse T2-deficient leukoencephalopathy 
    ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/.../rnase-t2-deficient-leukoencephalopathy - Genetics
  9. RNASET2 gene 
    ... pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutieres syndrome. Eur J Paediatr Neurol. 2016 Jul;20(4): ...
    https://medlineplus.gov/genetics/gene/rnaset2 - Genetics
  10. Paroxysmal extreme pain disorder 
    ... 006. Citation on PubMed Fertleman CR, Ferrie CD, Aicardi J, Bednarek ... familial rectal pain syndrome). Neurology. 2007 Aug 7;69(6):586-95. ...
    https://medlineplus.gov/.../paroxysmal-extreme-pain-disorder - Genetics