{"id":122069,"date":"2026-01-08T16:42:42","date_gmt":"2026-01-08T07:42:42","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122069"},"modified":"2026-03-03T13:46:03","modified_gmt":"2026-03-03T04:46:03","slug":"schimke-immunoosseous-dysplasia-smarcal1","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/schimke-immunoosseous-dysplasia-smarcal1\/","title":{"rendered":"\u30b7\u30e0\u30b1\u514d\u75ab\u6027\u9aa8\u5f62\u6210\u4e0d\u5168\uff08SMARCAL1\u95a2\u9023\uff09"},"content":{"rendered":"\n

\u6982\u8981<\/strong><\/h2>\n\n\n\n

\u30b7\u30e0\u30b1\u514d\u75ab\u6027\u9aa8\u5f62\u6210\u4e0d\u5168\uff08Schimke immunoosseous dysplasia\uff1aSIOD\uff09\u306f\u3001DNA\u8907\u88fd\u304a\u3088\u3073\u4fee\u5fa9\u306b\u95a2\u4e0e\u3059\u308bSMARCAL1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5e0c\u5c11\u306a\u591a\u7cfb\u7d71\u75be\u60a3\u3067\u3059\u3002\u672c\u75be\u60a3\u306f\u4f4e\u8eab\u9577\u3001\u9aa8\u683c\u7570\u5f62\u6210\u3001\u814e\u969c\u5bb3\u3001\u514d\u75ab\u4e0d\u5168\u3092\u7279\u5fb4\u3068\u3057\u3001\u3055\u3089\u306b\u4e2d\u67a2\u795e\u7d4c\u969c\u5bb3\u3084\u8840\u7ba1\u969c\u5bb3\u3092\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n

SMARCAL1\u86cb\u767d\u306fDNA\u8907\u88fd\u30d5\u30a9\u30fc\u30af\u306e\u5b89\u5b9a\u5316\u3068\u4fee\u5fa9\u3092\u62c5\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u7d30\u80de\u5897\u6b96\u3068\u7d44\u7e54\u518d\u751f\u304c\u969c\u5bb3\u3055\u308c\u307e\u3059\u3002\u6210\u9577\u969c\u5bb3\u3084\u514d\u75ab\u4e0d\u5168\u304c\u65e9\u671f\u304b\u3089\u51fa\u73fe\u3057\u3001\u611f\u67d3\u75c7\u3084\u814e\u4e0d\u5168\u304c\u4e88\u5f8c\u3092\u898f\u5b9a\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u75ab\u5b66<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306f\u6975\u3081\u3066\u7a00\u3067\u3001\u4e16\u754c\u7684\u306a\u5831\u544a\u6570\u306f100\u4f8b\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8fd1\u89aa\u5a5a\u5bb6\u7cfb\u3067\u306e\u767a\u75c7\u304c\u591a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

\u539f\u56e0<\/strong><\/h2>\n\n\n\n

\u672c\u75be\u60a3\u306fSMARCAL1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002SMARCAL1\u907a\u4f1d\u5b50\u306f\u30d2\u30c82\u756a\u67d3\u8272\u4f53\uff082q35\uff09\u306b\u4f4d\u7f6e\u3057\u3001SWI\/SNF\u30d5\u30a1\u30df\u30ea\u30fc\u306eATP\u4f9d\u5b58\u6027\u30af\u30ed\u30de\u30c1\u30f3\u30ea\u30e2\u30c7\u30ea\u30f3\u30b0\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308aDNA\u8907\u88fd\u30b9\u30c8\u30ec\u30b9\u8010\u6027\u304c\u5931\u308f\u308c\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

\u75c7\u72b6<\/strong><\/h2>\n\n\n\n

\u9aa8\u683c\u7cfb<\/strong><\/h3>\n\n\n\n
    \n
  • \u4f4e\u8eab\u9577<\/li>\n\n\n\n
  • \u77ed\u9838<\/li>\n\n\n\n
  • \u9aa8\u5f62\u6210\u4e0d\u5168<\/li>\n<\/ul>\n\n\n\n

    \u514d\u75ab<\/strong><\/h3>\n\n\n\n
      \n
    • T\u7d30\u80de\u514d\u75ab\u4e0d\u5168<\/li>\n\n\n\n
    • \u53cd\u5fa9\u611f\u67d3<\/li>\n<\/ul>\n\n\n\n

      \u814e<\/strong><\/h3>\n\n\n\n
        \n
      • \u86cb\u767d\u5c3f<\/li>\n\n\n\n
      • \u814e\u4e0d\u5168<\/li>\n<\/ul>\n\n\n\n

        \u795e\u7d4c\u30fb\u8840\u7ba1<\/strong><\/h3>\n\n\n\n
          \n
        • \u8133\u8840\u7ba1\u969c\u5bb3<\/li>\n\n\n\n
        • \u982d\u75db<\/li>\n\n\n\n
        • \u8133\u6897\u585e<\/li>\n<\/ul>\n\n\n\n

          \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
            \n
          1. \u4f4e\u8eab\u9577\uff0b\u514d\u75ab\u4e0d\u5168\uff0b\u814e\u969c\u5bb3<\/li>\n\n\n\n
          2. \u9aa8X\u7dda\u7570\u5e38<\/li>\n\n\n\n
          3. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08SMARCAL1\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

            \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
              \n
            • \u611f\u67d3\u4e88\u9632\u30fb\u7ba1\u7406<\/li>\n\n\n\n
            • \u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u88dc\u5145<\/li>\n\n\n\n
            • \u814e\u4fdd\u8b77\u7642\u6cd5<\/li>\n\n\n\n
            • \u6210\u9577\u30fb\u767a\u9054\u652f\u63f4<\/li>\n<\/ul>\n\n\n\n

              \u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n

              \u30b7\u30e0\u30b1\u514d\u75ab\u6027\u9aa8\u5f62\u6210\u4e0d\u5168 \u2014 \u907a\u4f1d\u5b50\u75be\u60a3\u89e3\u8aac\u30da\u30fc\u30b8\uff08\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\uff09\u3088\u308a\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)
              Boerkoel CF et al. Mutations in SMARCAL1 cause Schimke immunoosseous dysplasia. Nat Genet. 2002.(Nature)
              Schimke Immunoosseous Dysplasia \u2014 GeneReviews, PubMed Central.(PMC)
              Schimke Immunoosseous Dysplasia \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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