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Results 1 - 10 of 12 for Aicardi Goutieres syndrome
  1. Aicardi-Goutières syndrome 
    Aicardi-Goutières syndrome is a disorder that mainly affects the brain, the immune system, and the skin.Most newborns with Aicardi-Goutières syndrome do not ...
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome - Genetics
  2. RNASEH2C gene 
    ... RNASEH2C gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... system activation. The RNASEH2C gene mutations that cause Aicardi-Goutières syndrome likely result in a dysfunctional RNase H2 complex. ...
    https://medlineplus.gov/genetics/gene/rnaseh2c - Genetics
  3. TREX1 gene 
    ... TREX1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... and result in the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition Mutations in the ...
    https://medlineplus.gov/genetics/gene/trex1 - Genetics
  4. SAMHD1 gene 
    ... SAMHD1 gene have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... systems that lead to the characteristic features of Aicardi-Goutières syndrome. More About This Health Condition AGS5 DCIP dendritic ...
    https://medlineplus.gov/genetics/gene/samhd1 - Genetics
  5. IFIH1 gene 
    ... gene mutations have been found in people with Aicardi-Goutières syndrome. This disorder is characterized by abnormalities of the ... the brain.The IFIH1 gene mutations involved in Aicardi-Goutières syndrome are described as "gain-of-function" because they ...
    https://medlineplus.gov/genetics/gene/ifih1 - Genetics
  6. ADAR gene 
    ... gene mutations have been identified in people with Aicardi-Goutières syndrome, a disorder that involves severe brain dysfunction (encephalopathy), ... organs, leading to the signs and symptoms of Aicardi-Goutières syndrome. More About This Health Condition More than 180 ...
    https://medlineplus.gov/genetics/gene/adar - Genetics
  7. 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
  8. 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
  9. SCN9A gene 
    ... 22. 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/genetics/gene/scn9a - 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