{"id":122012,"date":"2026-01-08T14:10:00","date_gmt":"2026-01-08T05:10:00","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122012"},"modified":"2026-03-03T16:16:07","modified_gmt":"2026-03-03T07:16:07","slug":"mucolipidosis-type-iv-mcoln1-u","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/mucolipidosis-type-iv-mcoln1-u\/","title":{"rendered":"\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9\uff08IV\u578b\uff09"},"content":{"rendered":"\n

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

\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9IV\u578b\uff08Mucolipidosis Type IV\uff1aML IV\uff09\u306f\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u95a2\u9023\u30aa\u30eb\u30ac\u30cd\u30e9\u306e\u6a5f\u80fd\u306b\u95a2\u4e0e\u3059\u308bMCOLN1\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u3001\u5e0c\u5c11\u306a\u5148\u5929\u6027\u30ea\u30bd\u30bd\u30fc\u30e0\u75c5\u3067\u3059\u3002MCOLN1\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u819c\u306b\u5b58\u5728\u3059\u308b\u30ab\u30eb\u30b7\u30a6\u30e0\u30c1\u30e3\u30cd\u30eb\uff08\u30e0\u30b3\u30ea\u30d4\u30f31\uff09\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u7d30\u80de\u5185\u306e\u7269\u8cea\u8f38\u9001\u3084\u30aa\u30fc\u30c8\u30d5\u30a1\u30b8\u30fc\u3001\u819c\u8f38\u9001\u306e\u8abf\u7bc0\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u307e\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u7d30\u80de\u5185\u306b\u8102\u8cea\u3084\u7cd6\u8102\u8cea\u304c\u84c4\u7a4d\u3057\u3001\u7279\u306b\u795e\u7d4c\u7cfb\u3068\u773c\u306b\u5f37\u3044\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75be\u60a3\u306f\u51fa\u751f\u6642\u304b\u3089\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\u3057\u3001\u91cd\u5ea6\u306e\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede\u3001\u8996\u899a\u969c\u5bb3\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3092\u5448\u3057\u3001\u9032\u884c\u306f\u6bd4\u8f03\u7684\u7de9\u5f90\u3067\u3059\u304c\u3001\u751f\u6daf\u306b\u308f\u305f\u308b\u91cd\u5ea6\u969c\u5bb3\u3092\u6b8b\u3057\u307e\u3059\u3002\u5178\u578b\u7684\u306a\u30e0\u30b3\u591a\u7cd6\u75c7\u3068\u306f\u7570\u306a\u308a\u3001\u7c97\u9854\u8c8c\u3084\u81d3\u5668\u816b\u5927\u306f\u76ee\u7acb\u305f\u305a\u3001\u4e3b\u306b\u795e\u7d4c\u30fb\u773c\u75c7\u72b6\u304c\u524d\u666f\u306b\u7acb\u3064\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

\u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9IV\u578b\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3001\u4e16\u754c\u7684\u6709\u75c5\u7387\u306f100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b\u30a2\u30b7\u30e5\u30b1\u30ca\u30fc\u30b8\u7cfb\u30e6\u30c0\u30e4\u4eba\u96c6\u56e3\u3067\u5275\u59cb\u8005\u52b9\u679c\u306b\u3088\u308a\u983b\u5ea6\u304c\u9ad8\u304f\u3001\u4fdd\u56e0\u8005\u983b\u5ea6\u306f\u7d041\/100\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fMCOLN1\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002MCOLN1\u907a\u4f1d\u5b50\u306f\u30d2\u30c819\u756a\u67d3\u8272\u4f53\uff0819p13.2\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u819c\u306b\u5c40\u5728\u3059\u308bTRP\u30c1\u30e3\u30cd\u30eb\u30d5\u30a1\u30df\u30ea\u30fc\u86cb\u767d\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u86cb\u767d\u306f\u30ea\u30bd\u30bd\u30fc\u30e0\u5185\u30ab\u30eb\u30b7\u30a6\u30e0\u6052\u5e38\u6027\u306e\u7dad\u6301\u306b\u95a2\u4e0e\u3057\u3001\u30ea\u30bd\u30bd\u30fc\u30e0\u6a5f\u80fd\u3068\u7d30\u80de\u5185\u8f38\u9001\u3092\u5236\u5fa1\u3057\u307e\u3059\u3002\u6b20\u640d\u306b\u3088\u308a\u30ea\u30bd\u30bd\u30fc\u30e0\u306e\u5206\u89e3\u30fb\u8f38\u9001\u6a5f\u80fd\u304c\u969c\u5bb3\u3055\u308c\u3001\u672a\u5206\u89e3\u7269\u8cea\u304c\u84c4\u7a4d\u3057\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

\u4e73\u5150\u671f\u301c\u5c0f\u5150\u671f<\/strong><\/h3>\n\n\n\n
    \n
  • \u91cd\u5ea6\u7cbe\u795e\u904b\u52d5\u767a\u9054\u9045\u6ede<\/li>\n\n\n\n
  • \u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/li>\n\n\n\n
  • \u6442\u98df\u969c\u5bb3<\/li>\n<\/ul>\n\n\n\n

    \u773c\u75c7\u72b6<\/strong><\/h3>\n\n\n\n
      \n
    • \u89d2\u819c\u6df7\u6fc1<\/li>\n\n\n\n
    • \u7db2\u819c\u5909\u6027<\/li>\n\n\n\n
    • \u8996\u529b\u4f4e\u4e0b\u301c\u5931\u660e<\/li>\n<\/ul>\n\n\n\n

      \u305d\u306e\u4ed6<\/strong><\/h3>\n\n\n\n
        \n
      • \u6210\u9577\u969c\u5bb3<\/li>\n\n\n\n
      • \u3066\u3093\u304b\u3093\uff08\u307e\u308c\uff09<\/li>\n<\/ul>\n\n\n\n

        \u9854\u8c8c\u7570\u5e38\u3084\u9aa8\u7570\u5f62\u6210\u306f\u8efd\u5ea6\u307e\u305f\u306f\u6b20\u5982\u3057\u307e\u3059\u3002(PubMed)<\/p>\n\n\n\n

        \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
          \n
        1. \u81e8\u5e8a\u6240\u898b\uff08\u767a\u9054\u9045\u6ede\uff0b\u89d2\u819c\u6df7\u6fc1\uff09<\/li>\n\n\n\n
        2. \u773c\u79d1\u691c\u67fb\uff08\u89d2\u819c\u30fb\u7db2\u819c\u7570\u5e38\uff09<\/li>\n\n\n\n
        3. MRI\u3067\u767d\u8cea\u7570\u5e38\u3092\u8a8d\u3081\u308b\u5834\u5408\u3042\u308a<\/li>\n\n\n\n
        4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08MCOLN1\u89e3\u6790\uff09\u306b\u3088\u308b\u78ba\u5b9a (PMC)<\/li>\n<\/ol>\n\n\n\n

          \u6cbb\u7642<\/strong><\/h2>\n\n\n\n

          \u6839\u6cbb\u7642\u6cd5\u306f\u306a\u304f\u3001\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n

            \n
          • \u8996\u899a\u652f\u63f4<\/li>\n\n\n\n
          • \u7406\u5b66\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5<\/li>\n\n\n\n
          • \u6442\u98df\u652f\u63f4<\/li>\n\n\n\n
          • \u3066\u3093\u304b\u3093\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n

            \u73fe\u5728\u3001\u907a\u4f1d\u5b50\u6cbb\u7642\u3084\u5206\u5b50\u6a19\u7684\u6cbb\u7642\u306e\u7814\u7a76\u304c\u9032\u884c\u4e2d\u3067\u3059\u3002(Nature)<\/p>\n\n\n\n

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

            \u30e0\u30b3\u30ea\u30d4\u30c9\u30fc\u30b7\u30b9IV\u578b \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)
            Bargal R et al. Mucolipidosis type IV: clinical and molecular analysis. Nat Genet. 2000.(Nature)
            Mucolipidosis Type IV \u2014 GeneReviews, PubMed Central.(PMC)
            Mucolipidosis Type IV \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122012","genetic-diseases","type-genetic-diseases","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122012","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/genetic-diseases"}],"version-history":[{"count":3,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122012\/revisions"}],"predecessor-version":[{"id":125278,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122012\/revisions\/125278"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122012"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}