{"id":122021,"date":"2026-01-08T14:27:53","date_gmt":"2026-01-08T05:27:53","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&p=122021"},"modified":"2026-03-03T16:02:30","modified_gmt":"2026-03-03T07:02:30","slug":"hypohidrotic-ectodermal-dysplasia-x-linked-eda","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/hypohidrotic-ectodermal-dysplasia-x-linked-eda\/","title":{"rendered":"\u7121\u6c57\u6027\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7\uff08EDA\u95a2\u9023\uff09"},"content":{"rendered":"\n

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

\u7121\u6c57\u6027\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7\uff08Hypohidrotic Ectodermal Dysplasia\uff1aHED\uff09\u306f\u3001\u5916\u80da\u8449\u7531\u6765\u7d44\u7e54\u3067\u3042\u308b\u6c57\u817a\u3001\u6bdb\u9aea\u3001\u6b6f\u3001\u76ae\u819a\u306a\u3069\u306e\u767a\u751f\u7570\u5e38\u3092\u7279\u5fb4\u3068\u3059\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002EDA\u95a2\u9023\u578b\u306f\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u30bf\u30a4\u30d7\u3067\u3001X\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308a\u3001\u4e3b\u306b\u7537\u6027\u306b\u767a\u75c7\u3057\u307e\u3059\u3002EDA\u907a\u4f1d\u5b50\u306f\u5916\u80da\u8449\u7d44\u7e54\u306e\u5f62\u6210\u306b\u5fc5\u9808\u306a\u30a8\u30af\u30bf\u30c7\u30a3\u30b9\u30d7\u30e9\u30b7\u30f3A\u3068\u3044\u3046\u30b7\u30b0\u30ca\u30eb\u5206\u5b50\u3092\u30b3\u30fc\u30c9\u3057\u3066\u304a\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u6c57\u817a\u306e\u5f62\u6210\u4e0d\u5168\uff08\u7121\u6c57\uff09\u3001\u6b6f\u306e\u6b20\u5982\u3001\u6bdb\u9aea\u306e\u5e0c\u8584\u5316\u306a\u3069\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n

\u672c\u75be\u60a3\u306f\u51fa\u751f\u6642\u304b\u3089\u5b58\u5728\u3057\u307e\u3059\u304c\u3001\u767a\u6c57\u969c\u5bb3\u306b\u3088\u308b\u9ad8\u4f53\u6e29\u304c\u6700\u3082\u751f\u547d\u4e88\u5f8c\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u5408\u4f75\u75c7\u3067\u3042\u308a\u3001\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u4f53\u6e29\u7ba1\u7406\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

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

\u7121\u6c57\u6027\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7\u306e\u6709\u75c5\u7387\u306f\u7d041\u4e07\u301c10\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3066\u304a\u308a\u3001\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7\u306e\u4e2d\u3067\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044\u578b\u3067\u3059\u3002EDA\u95a2\u9023\u578b\u306f\u305d\u306e\u5927\u90e8\u5206\u3092\u5360\u3081\u307e\u3059\u3002(PMC)<\/p>\n\n\n\n

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

\u672c\u75be\u60a3\u306fEDA\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002EDA\u907a\u4f1d\u5b50\u306f\u30d2\u30c8X\u67d3\u8272\u4f53\uff08Xq12-q13\uff09\u306b\u4f4d\u7f6e\u3057\u3001\u5916\u80da\u8449\u7d30\u80de\u9593\u306e\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u95a2\u4e0e\u3059\u308b\u30a8\u30af\u30bf\u30c7\u30a3\u30b9\u30d7\u30e9\u30b7\u30f3A\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u306e\u86cb\u767d\u306f\u6c57\u817a\u3001\u6b6f\u80da\u3001\u6bdb\u5305\u306a\u3069\u306e\u5f62\u6210\u3092\u8a98\u5c0e\u3059\u308b\u91cd\u8981\u306a\u767a\u751f\u56e0\u5b50\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u640d\u306b\u3088\u308a\u5916\u80da\u8449\u7d44\u7e54\u306e\u5f62\u6210\u4e0d\u5168\u304c\u751f\u3058\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n

\u907a\u4f1d\u5f62\u5f0f\u306fX\u9023\u9396\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n

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

\u76ae\u819a\u30fb\u6c57\u817a<\/strong><\/h3>\n\n\n\n
    \n
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  • \u9ad8\u4f53\u6e29\u3001\u71b1\u4e2d\u75c7\u30ea\u30b9\u30af<\/li>\n<\/ul>\n\n\n\n

    \u6bdb\u9aea<\/strong><\/h3>\n\n\n\n
      \n
    • \u6bdb\u9aea\u304c\u7d30\u304f\u5c11\u306a\u3044<\/li>\n\n\n\n
    • \u7709\u6bdb\u30fb\u307e\u3064\u6bdb\u306e\u6b20\u5982<\/li>\n<\/ul>\n\n\n\n

      \u6b6f<\/strong><\/h3>\n\n\n\n
        \n
      • \u5148\u5929\u6027\u6b20\u6b6f<\/li>\n\n\n\n
      • \u5186\u9310\u6b6f<\/li>\n<\/ul>\n\n\n\n

        \u9854\u8c8c<\/strong><\/h3>\n\n\n\n
          \n
        • \u524d\u984d\u7a81\u51fa<\/li>\n\n\n\n
        • \u978d\u9f3b<\/li>\n\n\n\n
        • \u53e3\u5507\u7a81\u51fa<\/li>\n<\/ul>\n\n\n\n

          \u8a3a\u65ad<\/strong><\/h2>\n\n\n\n
            \n
          1. \u81e8\u5e8a\u6240\u898b\uff08\u7121\u6c57\uff0b\u6b6f\u7259\u6b20\u640d\uff0b\u4e4f\u6bdb\uff09<\/li>\n\n\n\n
          2. \u767a\u6c57\u8a66\u9a13<\/li>\n\n\n\n
          3. \u76ae\u819a\u751f\u691c\u3067\u6c57\u817a\u6b20\u5982\u78ba\u8a8d<\/li>\n\n\n\n
          4. \u907a\u4f1d\u5b50\u8a3a\u65ad\uff08EDA\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n

            \u6cbb\u7642<\/strong><\/h2>\n\n\n\n
              \n
            • \u4f53\u6e29\u7ba1\u7406\uff08\u51b7\u5374\u3001\u74b0\u5883\u8abf\u6574\uff09<\/li>\n\n\n\n
            • \u6b6f\u79d1\u88dc\u7db4\u6cbb\u7642<\/li>\n\n\n\n
            • \u76ae\u819a\u4fdd\u6e7f\u30b1\u30a2<\/li>\n\n\n\n
            • \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n<\/ul>\n\n\n\n

              \u73fe\u5728\u3001EDA\u88dc\u5145\u7642\u6cd5\u306a\u3069\u306e\u7814\u7a76\u3082\u9032\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002(Nature)<\/p>\n\n\n\n

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

              \u7121\u6c57\u6027\u5916\u80da\u8449\u5f62\u6210\u4e0d\u5168\u75c7 \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)
              Kere J et al. X-linked ectodermal dysplasia is caused by mutations in the EDA gene. Nat Genet. 1996.(Nature)
              Hypohidrotic Ectodermal Dysplasia \u2014 GeneReviews, PubMed Central.(PMC)
              Hypohidrotic Ectodermal Dysplasia \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n

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