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  • choroid
  • A number of tumors have been reported in association with Aicardi syndrome: choroid plexus papilloma (the most common), medulloblastoma, gastric hyperplastic polyps, rectal polyps, soft palate benign teratoma, hepatoblastoma, parapharyngeal embryonal cell cancer, limb angiosarcoma and scalp lipoma. (wikipedia.org)
  • heterogeneity
  • Given the phenotypic heterogeneity and diagnostic difficulties associated with young children, Aicardi syndrome may be a more frequent cause of mental retardation and seizure in girls than previously thought. (medscape.com)
  • patients
  • An additional 7 patients were described in 1969, and in 1972, Dennis and Bower established the Aicardi syndrome designation. (medscape.com)
  • The identification of recurrent hypomethylation in the KCNAB3 gene's promoter and 5' areas in patients with Aicardi syndrome, as discussed in a study by Piras et al, may aid in the understanding of neuronal hyperactivity, as well as the neurodevelopmental and/or neuroinflammation pathways, in these individuals. (medscape.com)
  • hereditary
  • Examples of this type of disorder are Huntington's disease, neurofibromatosis type 1, neurofibromatosis type 2, Marfan syndrome, hereditary nonpolyposis colorectal cancer, hereditary multiple exostoses (a highly penetrant autosomal dominant disorder), Tuberous sclerosis, Von Willebrand disease, and acute intermittent porphyria. (wikipedia.org)
  • type
  • Examples of this type of disorder are Albinism, Medium-chain acyl-CoA dehydrogenase deficiency, cystic fibrosis, sickle-cell disease, Tay-Sachs disease, Niemann-Pick disease, spinal muscular atrophy, and Roberts syndrome. (wikipedia.org)
  • The SAMHD1 protein is also known as: AGS5: Aicardi- Goutières syndrome type 5 DCIP: Dendritic cell-derived IFNG-induced protein2 Mg11: Interferon-gamma-inducible protein HDDC1: HD domain containing 1 MOP-5: Monocyte protein 5 SAMH1_HUMAN SBBI88 CHBL2 The gene encoding human SAMHD1 was originally identified in a human dendritic cell cDNA library as an orthologue of a mouse gene IFN-γ-induced gene Mg11. (wikipedia.org)
  • condition
  • Following an original description of eight cases in 1984, the condition was first referred to as 'Aicardi-Goutières syndrome' (AGS) in 1992, and the first international meeting on AGS was held in Pavia, Italy, in 2001. (wikipedia.org)
  • List of drugs used to treat the medical condition called Aicardi-Goutieres Syndrome. (medindia.net)
  • occurs
  • The syndrome occurs in people of diverse racial backgrounds throughout the world with no noted racial predominance. (medscape.com)
  • triad
  • Aicardi syndrome is typically characterized by the following triad of features - however, one of the "classic" features being missing does not preclude a diagnosis of Aicardi Syndrome, if other supporting features are present. (wikipedia.org)
  • West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern (called hypsarrhythmia), and developmental regression - although the international definition requires only two out of these three elements. (wikipedia.org)
  • conditions
  • Significant technological advances have been made within the past few decades that have allowed more extensive studies to be made regarding syndromes from conditions such as polymicrogyria. (wikipedia.org)
  • He has also used comparative genomics to contribute directly to the understanding of chromatin structure and the genetics of numerous conditions including asthma, obesity, Alzheimer's disease, retinitis pigmentosa, muscular dystrophies, and Aicardi-Goutières syndrome. (wikipedia.org)
  • generally
  • The syndrome is age-related, generally occurring between the third and the twelfth month, generally manifesting around the fifth month. (wikipedia.org)