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考えれる107県の原因 sptbn2

  • X連鎖性の鉄芽球性貧血および運動失調

    6311 ] (SCA3) ATXN3 (CAG repeat expansion) [HSA: 4287 ] [KO: K11863 ] (SCA5) SPTBN2 [HSA: 6712 ] [KO: K061 15 ] (SCA6) CACNA1A (CAG repeat expansion) [HSA: 773 ] [KO: K04344[kegg.jp] 16q22.1 --- Flanigan et al [1996] , Hellenbroich et al [2003] , Edener et al [2011] 研究のみ SCA5 SPTBN2 非反復変異 Ikeda et al [2006] 臨床 SCA6 CACNA1A CAG反復 Gomez [2008] 臨床 SCA7 ATXN7[grj.umin.jp] ANO10 [HSA: 55129 ] [KO: K19327 ] (SCAR11) SYT14 [HSA: 255928 ] [KO: K19328 ] (SCAR12) WWOX [HSA: 51741 ] [KO: K19329 ] (SCAR13) GRM1 [HSA: 2911 ] [KO: K04603 ] (SCAR14) SPTBN2[kegg.jp]

  • 常染色体劣性原発性小頭症

    ANO10 [HSA: 55129 ] [KO: K19327 ] (SCAR11) SYT14 [HSA: 255928 ] [KO: K19328 ] (SCAR12) WWOX [HSA: 51741 ] [KO: K19329 ] (SCAR13) GRM1 [HSA: 2911 ] [KO: K04603 ] (SCAR14) SPTBN2[kegg.jp]

  • 常染色体優性精神遅滞24

    6311 ] (SCA3) ATXN3 (CAG repeat expansion) [HSA: 4287 ] [KO: K11863 ] (SCA5) SPTBN2 [HSA: 6712 ] [KO: K061 15 ] (SCA6) CACNA1A (CAG repeat expansion) [HSA: 773 ] [KO: K04344[kegg.jp] ANO10 [HSA: 55129 ] [KO: K19327 ] (SCAR11) SYT14 [HSA: 255928 ] [KO: K19328 ] (SCAR12) WWOX [HSA: 51741 ] [KO: K19329 ] (SCAR13) GRM1 [HSA: 2911 ] [KO: K04603 ] (SCAR14) SPTBN2[kegg.jp] 神経変性疾患 hsa04730 Long-term depression hsa03008 Ribosome biogenesis in eukaryotes (SCA1) ATXN1 (CAG repeat expansion) [HSA: 6310 ] (SCA2) ATXN2 (CAG repeat expansion) [HSA:[kegg.jp]

  • 家族性隔離長睫毛症

    ANO10 [HSA: 55129 ] [KO: K19327 ] (SCAR11) SYT14 [HSA: 255928 ] [KO: K19328 ] (SCAR12) WWOX [HSA: 51741 ] [KO: K19329 ] (SCAR13) GRM1 [HSA: 2911 ] [KO: K04603 ] (SCAR14) SPTBN2[kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ63

    6311 ] (SCA3) ATXN3 (CAG repeat expansion) [HSA: 4287 ] [KO: K11863 ] (SCA5) SPTBN2 [HSA: 6712 ] [KO: K06115 ] (SCA6) CACNA1A (CAG repeat expansion) [HSA: 773 ] [KO: K04344[kegg.jp] 神経変性疾患 hsa04730 Long-term depression hsa03008 Ribosome biogenesis in eukaryotes (SCA1) ATXN1 (CAG repeat expansion) [HSA: 6310 ] (SCA2) ATXN2 (CAG repeat expansion) [HSA:[kegg.jp]

  • X連鎖非進行性小脳性運動失調症

    近年では小児交互性片麻痺(ATP1A3)、SSADH欠損症(ALDH5A1)、Aicardi-Goutieres症候群(IFIH1)、PGK欠損症(PGK1)、Spinocerebellar ataxia type5(SPTBN2)などの患者さんの遺伝子変異を同定しました。[tmd.ac.jp] 16q22.1 --- Flanigan et al [1996] , Hellenbroich et al [2003] , Edener et al [2011] 研究のみ SCA5 SPTBN2 非反復変異 Ikeda et al [2006] 臨床 SCA6 CACNA1A CAG反復 Gomez [2008] 臨床 SCA7 ATXN7[grj.umin.jp] 常染色体優性小脳失調の分子遺伝学 疾患名 遺伝子記号・ 染色体座 1 変異の種類 参考文献 検査の実施状況 SCA1 ATXN1 CAG反復 Subramony & Ashizawa [2011] 臨床 SCA2 ATXN2 CAG反復 Pulst [2010] 臨床 SCA3 ATXN3 CAG反復 Paulson [2011] 臨床 SCA4 2[grj.umin.jp]

  • 耳 - 膝蓋骨 - 低身長症候群

    ANO10 [HSA: 55129 ] [KO: K19327 ] (SCAR11) SYT14 [HSA: 255928 ] [KO: K19328 ] (SCAR12) WWOX [HSA: 51741 ] [KO: K19329 ] (SCAR13) GRM1 [HSA: 2911 ] [KO: K04603 ] (SCAR14) SPTBN2[kegg.jp]

  • 常染色体劣性痙性対麻痺タイプ61

    6311 ] (SCA3) ATXN3 (CAG repeat expansion) [HSA: 4287 ] [KO: K11863 ] (SCA5) SPTBN2 [HSA: 6712 ] [KO: K06115 ] (SCA6) CACNA1A (CAG repeat expansion) [HSA: 773 ] [KO: K04344[kegg.jp] 神経変性疾患 hsa04730 Long-term depression hsa03008 Ribosome biogenesis in eukaryotes (SCA1) ATXN1 (CAG repeat expansion) [HSA: 6310 ] (SCA2) ATXN2 (CAG repeat expansion) [HSA:[kegg.jp]

  • 致命的な多発性ミトコンドリア機能不全症候群

    ANO10 [HSA: 55129 ] [KO: K19327 ] (SCAR11) SYT14 [HSA: 255928 ] [KO: K19328 ] (SCAR12) WWOX [HSA: 51741 ] [KO: K19329 ] (SCAR13) GRM1 [HSA: 2911 ] [KO: K04603 ] (SCAR14) SPTBN2[kegg.jp]

  • 常染色体劣性精神遅滞 31

    6311 ] (SCA3) ATXN3 (CAG repeat expansion) [HSA: 4287 ] [KO: K11863 ] (SCA5) SPTBN2 [HSA: 6712 ] [KO: K061 15 ] (SCA6) CACNA1A (CAG repeat expansion) [HSA: 773 ] [KO: K04344[kegg.jp] 16q22.1 --- Flanigan et al [1996] , Hellenbroich et al [2003] , Edener et al [2011] 研究のみ SCA5 SPTBN2 非反復変異 Ikeda et al [2006] 臨床 SCA6 CACNA1A CAG反復 Gomez [2008] 臨床 SCA7 ATXN7[grj.umin.jp] ANO10 [HSA: 55129 ] [KO: K19327 ] (SCAR11) SYT14 [HSA: 255928 ] [KO: K19328 ] (SCAR12) WWOX [HSA: 51741 ] [KO: K19329 ] (SCAR13) GRM1 [HSA: 2911 ] [KO: K04603 ] (SCAR14) SPTBN2[kegg.jp]

さらなる症状