{"id":17337,"date":"2026-01-22T02:37:26","date_gmt":"2026-01-22T02:37:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17337"},"modified":"2026-01-22T02:38:33","modified_gmt":"2026-01-22T02:38:33","slug":"hypertrichosis-terminals-generalized-with-or-without-gingival-hyperplasia-htc3","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/hypertrichosis-terminals-generalized-with-or-without-gingival-hyperplasia-htc3\/","title":{"rendered":"Hypertrichosis terminals, generalized, with or without gingival hyperplasia (HTC3)"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>HTC3<\/strong><\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5168\u8eab\u6027\u591a\u6bdb\u75c7\uff08Congenital Generalized Hypertrichosis; CGH\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u30b8\u30f3\u30b8\u30d0\u30eb\u30fb\u30cf\u30a4\u30d1\u30fc\u30d7\u30e9\u30b7\u30a2\uff08\u6b6f\u8089\u5897\u6b96\u75c7\uff09\u3092\u4f34\u3046\u591a\u6bdb\u75c7<\/strong><\/li>\n\n\n\n<li><strong>Ambras\u75c7\u5019\u7fa4\uff08\u30a2\u30f3\u30d6\u30e9\u30b9\u75c7\u5019\u7fa4\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u6b74\u53f2\u7684\u306b\u306f\u672c\u75be\u60a3\u3068\u985e\u4f3c\u3057\u305f\u75c7\u72b6\u3092\u6301\u3064\u591a\u6bdb\u75c7\u3092\u3053\u3046\u547c\u3073\u307e\u3059\u304c\u3001\u907a\u4f1d\u5b50\u578b\u306b\u3088\u3063\u3066\u7d30\u304b\u304f\u5206\u985e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u9023\uff1a\u30d0\u30fc\u30d0\u30fc\u30fb\u30bb\u30a4\u75c7\u5019\u7fa4\uff08Barber-Say syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u591a\u6bdb\u3068\u76ae\u819a\u306e\u5f1b\u7de9\u3092\u4f34\u3044\u307e\u3059\u304c\u3001\u7570\u306a\u308b\u907a\u4f1d\u5b50\u7570\u5e38\uff08<em>TWIST2<\/em>\u306a\u3069\uff09\u306b\u3088\u308b\u75be\u60a3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>17\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0924.2-24.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e17\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u300c24.2\u304b\u308924.3\u300d\u3068\u3044\u3046\u4f4d\u7f6e\u306b\u3042\u308b\u907a\u4f1d\u5b50\u60c5\u5831\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>HTC3\u306e\u4e3b\u306a\u539f\u56e0\u907a\u4f1d\u5b50\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308b ABCA5\u907a\u4f1d\u5b50 \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ABCA5 (ATP Binding Cassette Subfamily A Member 5):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u819c\u3092\u8cab\u901a\u3057\u3066\u7269\u8cea\u3092\u8f38\u9001\u3059\u308b\u5f79\u5272\u3092\u6301\u3064\u300cABC\u30c8\u30e9\u30f3\u30b9\u30dd\u30fc\u30bf\u30fc\u300d\u30d5\u30a1\u30df\u30ea\u30fc\u306b\u5c5e\u3059\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6bdb\u5305\uff08\u6bdb\u306e\u6839\u5143\uff09\u306e\u5f62\u6210\u3084\u7dad\u6301\u3001\u8102\u8cea\u8f38\u9001\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8a73\u7d30\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u306f\u307e\u3060\u5b8c\u5168\u306b\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u7684\u5909\u5316:<\/strong> \u3053\u306e\u9818\u57df\u306b\u304a\u3051\u308b\u9006\u4f4d\u3001\u91cd\u8907\u3001\u3042\u308b\u3044\u306f\u5fae\u5c0f\u306a\u6b20\u5931\u306a\u3069\u306e\u69cb\u9020\u5909\u5316\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u3063\u3066 <em>ABCA5<\/em> \u907a\u4f1d\u5b50\u306e\u767a\u73fe\u304c\u59a8\u3052\u3089\u308c\u305f\u308a\u3001\u5468\u8fba\u907a\u4f1d\u5b50\u306e\u5236\u5fa1\u304c\u5d29\u308c\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u6bdb\u5468\u671f\uff08\u6bdb\u306e\u751f\u3048\u4ee3\u308f\u308a\u30b5\u30a4\u30af\u30eb\uff09\u306b\u7570\u5e38\u304c\u751f\u3058\u3001\u672c\u6765\u306a\u3089\u629c\u3051\u308b\u306f\u305a\u306e\u7523\u6bdb\u304c\u300c\u7d42\u6bdb\uff08\u592a\u304f\u9577\u3044\u6bdb\uff09\u300d\u3078\u3068\u5909\u5316\u3057\u3066\u5168\u8eab\u3092\u8986\u3046\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u6975\u3081\u3066\u7a00\uff08Ultra-rare\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u4e16\u754c\u7684\u306a\u7d71\u8a08\u30c7\u30fc\u30bf\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u304c\u3001\u6b74\u53f2\u7684\u306a\u8a18\u9332\u3084\u533b\u5b66\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u306f\u4e16\u754c\u4e2d\u3067<strong>\u6570\u5bb6\u65cf\u3001\u6570\u767e\u4f8b\u4ee5\u4e0b<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4eba\u7a2e\u30fb\u6027\u5dee:<\/strong> \u7279\u5b9a\u306e\u4eba\u7a2e\u306b\u504f\u308b\u3068\u3044\u3046\u30c7\u30fc\u30bf\u306f\u306a\u304f\u3001\u4e16\u754c\u5404\u5730\u3067\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7537\u5973\u5dee\u3082\u306a\u304f\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>HTC3\u306f\u3001\u5168\u8eab\u3092\u8986\u3046\u904e\u5270\u306a\u6bdb\u9aea\uff08\u591a\u6bdb\uff09\u3068\u3001\u53e3\u306e\u4e2d\u306e\u6b6f\u8089\uff08\u6b6f\u3050\u304d\uff09\u306e\u5909\u5316\u3092\u4e8c\u5927\u7279\u5fb4\u3068\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5148\u5929\u6027\u5168\u8eab\u6027\u591a\u6bdb\u75c7\uff08Generalized Hypertrichosis\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u75c7\u6642\u671f:<\/strong> \u751f\u307e\u308c\u305f\u6642\u304b\u3089\u3001\u3042\u308b\u3044\u306f\u4e73\u5150\u671f\u65e9\u671f\u304b\u3089\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bdb\u306e\u8cea:<\/strong> \u901a\u5e38\u306e\u300c\u7523\u6bdb\uff08\u6bf3\u6bdb\uff09\u300d\u3067\u306f\u306a\u304f\u3001\u982d\u9aea\u3068\u540c\u3058\u3088\u3046\u306a\u592a\u304f\u3066\u8272\u306e\u6fc3\u3044\u3001\u9577\u3044**\u300c\u7d42\u6bdb\u300d**\u304c\u5168\u8eab\u306b\u751f\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5206\u5e03:<\/strong> \u9854\u3001\u4f53\u5e79\u3001\u56db\u80a2\u3092\u5e83\u7bc4\u56f2\u306b\u8986\u3044\u307e\u3059\u3002\u7279\u306b\u9854\u9762\uff08\u984d\u3001\u3053\u3081\u304b\u307f\u3001\u982c\uff09\u3084\u80cc\u4e2d\u3001\u80a9\u5468\u308a\u306b\u9855\u8457\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7279\u5fb4:<\/strong> \u638c\uff08\u624b\u306e\u3072\u3089\uff09\u3068\u8db3\u5e95\uff08\u8db3\u306e\u88cf\uff09\u3092\u9664\u304d\u3001\u307b\u307c\u5168\u8eab\u3092\u6bdb\u304c\u8986\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7c98\u819c\u90e8\u306b\u306f\u751f\u3048\u307e\u305b\u3093\u3002\u6bdb\u306e\u9577\u3055\u306f\u6570\u30bb\u30f3\u30c1\u304b\u3089\u5341\u6570\u30bb\u30f3\u30c1\u306b\u53ca\u3076\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6b6f\u8089\u5897\u6b96\u75c7\uff08Gingival hyperplasia\uff09\uff1a\u4f34\u3046\u5834\u5408\u3068\u4f34\u308f\u306a\u3044\u5834\u5408\u304c\u3042\u308b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6:<\/strong> \u6b6f\u3050\u304d\uff08\u6b6f\u8089\uff09\u306e\u7d44\u7e54\u304c\u7570\u5e38\u306b\u5897\u6b96\u3057\u3001\u539a\u304f\u76db\u308a\u4e0a\u304c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6642\u671f:<\/strong> \u6b6f\u304c\u751f\u3048\u59cb\u3081\u308b\u9803\uff08\u4e73\u6b6f\u306e\u840c\u51fa\u671f\uff09\u304b\u3089\u76ee\u7acb\u3061\u59cb\u3081\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5f71\u97ff:<\/strong> \u5897\u6b96\u3057\u305f\u6b6f\u8089\u304c\u6b6f\u3092\u8986\u3044\u96a0\u3057\u3066\u3057\u307e\u3044\u3001\u6b6f\u4e26\u3073\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u305f\u308a\u3001\u5480\u56bc\uff08\u565b\u3080\u3053\u3068\uff09\u304c\u56f0\u96e3\u306b\u306a\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u53e3\u8154\u5185\u306e\u6e05\u6383\u304c\u96e3\u3057\u304f\u306a\u308a\u3001\u866b\u6b6f\u3084\u6b6f\u5468\u75c5\u3001\u53e3\u81ed\u306e\u539f\u56e0\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u500b\u4eba\u5dee:<\/strong> HTC3\u306e\u5b9a\u7fa9\u306b\u542b\u307e\u308c\u308b\u901a\u308a\u3001\u591a\u6bdb\u306e\u307f\u3067\u6b6f\u8089\u306e\u75c7\u72b6\u304c\u51fa\u306a\u3044\u60a3\u8005\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u8457\u3057\u3044\u5897\u6b96\u304c\u898b\u3089\u308c\u308b\u60a3\u8005\u3055\u3093\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u9854\u8c8c\u306e\u7279\u5fb4\uff08Facial features\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u6bdb\u305d\u306e\u3082\u306e\u306e\u5f71\u97ff\u4ee5\u5916\u306b\u3082\u3001\u72ec\u7279\u306e\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7c97\u306a\u9854\u8c8c\uff08Coarse face\uff09:<\/strong> \u9f3b\u304c\u5e45\u5e83\u304b\u3063\u305f\u308a\u3001\u5507\u304c\u539a\u304b\u3063\u305f\u308a\u3001\u5f6b\u308a\u306e\u6df1\u3044\u9854\u7acb\u3061\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7709\u30fb\u307e\u3064\u6bdb:<\/strong> \u975e\u5e38\u306b\u6fc3\u304f\u3001\u9577\u3044\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u77e5\u80fd\u304a\u3088\u3073\u5168\u8eab\u767a\u9054<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u80fd:<\/strong> \u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001<strong>\u77e5\u80fd\u306f\u5b8c\u5168\u306b\u6b63\u5e38<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u767a\u9054:<\/strong> \u5185\u81d3\u306a\u3069\u306e\u91cd\u5927\u306a\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u7a00\u3067\u3042\u308a\u3001\u8eab\u4f53\u7684\u306a\u767a\u9054\u3082\u901a\u5e38\u901a\u308a\u9032\u307f\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u7684\u5f71\u97ff:<\/strong> \u5916\u898b\u4e0a\u306e\u7279\u5fb4\u304c\u975e\u5e38\u306b\u5f37\u3044\u305f\u3081\u3001\u793e\u4f1a\u7684\u306a\u504f\u898b\u3084\u3044\u3058\u3081\u3001\u5b64\u72ec\u611f\u3068\u3044\u3063\u305f\u4e8c\u6b21\u7684\u306a\u7cbe\u795e\u7684\u82e6\u75db\u3092\u62b1\u3048\u308b\u30ea\u30b9\u30af\u304c\u6975\u3081\u3066\u9ad8\u3044\u306e\u304c\u5b9f\u60c5\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>17q24.2-24.3\u9818\u57df\u306b\u304a\u3051\u308b\u907a\u4f1d\u7684\u5909\u7570\uff08\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5f62\u5f0f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u3068\u3093\u3069\u306e\u75c7\u4f8b\u306b\u304a\u3044\u3066\u3001<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\uff08\u512a\u6027\uff09\u907a\u4f1d<\/strong>\u306e\u5f62\u5f0f\u3092\u3068\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3064\u307e\u308a\u3001\u89aa\u306e\u3069\u3061\u3089\u304b\u304cHTC3\u3067\u3042\u308b\u5834\u5408\u300150%\u306e\u78ba\u7387\u3067\u5b50\u4f9b\u306b\u53d7\u3051\u7d99\u304c\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u65b9\u3067\u3001\u5bb6\u7cfb\u5185\u306b\u8ab0\u3082\u3044\u306a\u3044\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo mutation\uff09\u300d\u3068\u3057\u3066\u7a81\u5982\u73fe\u308c\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>ABCA5<\/em> \u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u4e0d\u5168\u304c\u3001\u6bdb\u5305\u306e\u300c\u6210\u9577\u671f\u300d\u3092\u7570\u5e38\u306b\u5ef6\u9577\u3055\u305b\u3001\u901a\u5e38\u306a\u3089\u4f11\u6b62\u671f\u306b\u5165\u3063\u3066\u629c\u3051\u843d\u3061\u308b\u6bdb\u304c\u6210\u9577\u3057\u7d9a\u3051\u308b\u3088\u3046\u306b\u6307\u793a\u3092\u51fa\u3057\u3066\u3057\u307e\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306a\u5916\u898b\u7684\u7279\u5fb4\u304b\u3089\u7591\u308f\u308c\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u306b\u3088\u3063\u3066\u78ba\u5b9a\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8eab\u4f53\u8a3a\u5bdf:<\/strong> \u5168\u8eab\u306e\u591a\u6bdb\u306e\u5206\u5e03\u3001\u6bdb\u306e\u8cea\uff08\u7d42\u6bdb\u3067\u3042\u308b\u3053\u3068\uff09\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u53e3\u8154\u5185\u306e\u8a3a\u5bdf\u3067\u6b6f\u8089\u5897\u6b96\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6b74\u306e\u8074\u53d6:<\/strong> \u89aa\u65cf\u306b\u540c\u69d8\u306e\u75c7\u72b6\u3092\u6301\u3064\u4eba\u304c\u3044\u306a\u3044\u304b\u3092\u8a73\u7d30\u306b\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u691c\u67fb\uff08\u78ba\u5b9a\u8a3a\u65ad\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u30b7\u30fc\u30af\u30a8\u30f3\u30b9\u89e3\u6790:<\/strong> <em>ABCA5<\/em> \u907a\u4f1d\u5b50\u306e\u5909\u7570\u3092\u8abf\u3079\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong> 17q24\u9818\u57df\u306e\u5fae\u5c0f\u306a\u91cd\u8907\u3084\u6b20\u5931\u3092\u691c\u51fa\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1\u30ec\u30f3\u30c8\u30b2\u30f3:<\/strong> \u6b6f\u8089\u5897\u6b96\u306b\u3088\u3063\u3066\u6b6f\u306e\u840c\u51fa\u304c\u59a8\u3052\u3089\u308c\u3066\u3044\u306a\u3044\u304b\u3001\u9aa8\u306e\u7570\u5e38\u304c\u306a\u3044\u304b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u7570\u5e38\u306a\u907a\u4f1d\u5b50\u305d\u306e\u3082\u306e\u3092\u6b63\u5e38\u5316\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u5916\u898b\u306e\u6539\u5584\uff08\u591a\u6bdb\u3078\u306e\u5bfe\u5fdc\uff09\u3068\u53e3\u8154\u30b1\u30a2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u591a\u6bdb\u75c7\u3078\u306e\u5bfe\u7b56\uff08\u7f8e\u5bb9\u7684\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<p>\u7cbe\u795e\u7684\u306a\u8ca0\u62c5\u3092\u8efd\u6e1b\u3059\u308b\u305f\u3081\u306b\u3001\u672c\u4eba\u306e\u5e0c\u671b\u306b\u5fdc\u3058\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8131\u6bdb\uff08Laser Hair Removal\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u73fe\u4ee3\u306b\u304a\u3044\u3066\u6700\u3082\u52b9\u679c\u7684\u306a\u65b9\u6cd5\u306e\u4e00\u3064\u3067\u3059\u3002\u533b\u7642\u7528\u30ec\u30fc\u30b6\u30fc\u306b\u3088\u308a\u6bdb\u6839\u3092\u7834\u58ca\u3057\u3001\u6bdb\u304c\u751f\u3048\u3066\u304f\u308b\u306e\u3092\u6291\u3048\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7bc4\u56f2\u304c\u5e83\u3044\u305f\u3081\u3001\u9577\u671f\u306b\u308f\u305f\u308b\u6cbb\u7642\u3068\u30b3\u30b9\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u5b50\u4f9b\u306e\u5834\u5408\u3001\u76ae\u819a\u306e\u30c0\u30e1\u30fc\u30b8\u3084\u75db\u307f\u3092\u8003\u616e\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9664\u6bdb\u30fb\u5243\u6bdb:<\/strong> \u4e00\u6642\u7684\u3067\u3059\u304c\u3001\u6700\u3082\u624b\u8efd\u306a\u65b9\u6cd5\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8131\u8272:<\/strong> \u6bdb\u3092\u8584\u304f\u898b\u305b\u308b\u305f\u3081\u306b\u884c\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6b6f\u8089\u5897\u6b96\u3078\u306e\u5bfe\u7b56<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b6f\u8089\u5207\u9664\u8853\uff08Gingivectomy\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5897\u6b96\u304c\u8457\u3057\u304f\u3001\u5480\u56bc\u3084\u767a\u97f3\u3001\u53e3\u8154\u6e05\u6383\u306b\u652f\u969c\u304c\u51fa\u308b\u5834\u5408\u3001\u5916\u79d1\u7684\u306b\u4f59\u5206\u306a\u6b6f\u8089\u3092\u5207\u308a\u53d6\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u518d\u767a\u306e\u30ea\u30b9\u30af:<\/strong> \u624b\u8853\u3092\u884c\u3063\u3066\u3082\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u518d\u3073\u6b6f\u8089\u304c\u76db\u308a\u4e0a\u304c\u3063\u3066\u304f\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u8907\u6570\u56de\u306e\u624b\u8853\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5c02\u9580\u7684\u306a\u53e3\u8154\u30b1\u30a2:<\/strong> \u6b6f\u79d1\u885b\u751f\u58eb\u306b\u3088\u308b\u5fb9\u5e95\u3057\u305f\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u3001\u5bb6\u5ead\u3067\u306e\u30b1\u30a2\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5fc3\u7406\u7684\u30fb\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0:<\/strong> \u5e7c\u5c11\u671f\u304b\u3089\u3001\u81ea\u5206\u81ea\u8eab\u306e\u500b\u6027\u3092\u53d7\u3051\u5165\u308c\u308b\u305f\u3081\u306e\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u793e\u4f1a\u5553\u767a:<\/strong> \u5468\u56f2\u306e\u4eba\u3005\u3084\u5b66\u6821\u6559\u80b2\u306b\u304a\u3044\u3066\u3001\u3053\u308c\u304c\u300c\u75c5\u6c17\u306b\u3088\u308b\u7279\u5fb4\u300d\u3067\u3042\u308b\u3053\u3068\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3066\u3082\u3089\u3046\u652f\u63f4\u304c\u3001\u60a3\u8005\u3055\u3093\u306eQOL\u3092\u5b88\u308b\u305f\u3081\u306b\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<p>HTC3\u306f\u3001\u751f\u547d\u305d\u306e\u3082\u306e\u3092\u8105\u304b\u3059\u75be\u60a3\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u547d\u4e88\u5f8c:<\/strong> \u5bff\u547d\u306f\u4e00\u822c\u306e\u65b9\u3068\u5909\u308f\u3089\u305a\u3001\u5185\u81d3\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u7279\u306b\u9ad8\u3044\u308f\u3051\u3067\u3082\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09:<\/strong> \u591a\u6bdb\u3084\u6b6f\u8089\u5897\u6b96\u3068\u3044\u3046\u5916\u898b\u7684\u306a\u554f\u984c\u306b\u5bfe\u3057\u3066\u3001\u672c\u4eba\u304c\u3069\u306e\u3088\u3046\u306b\u5411\u304d\u5408\u3044\u3001\u3069\u306e\u3088\u3046\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u3089\u308c\u308b\u304b\u306b\u5927\u304d\u304f\u5de6\u53f3\u3055\u308c\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u7684\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8\u304c\u3042\u308c\u3070\u3001\u793e\u4f1a\u751f\u6d3b\u306b\u304a\u3044\u3066\u5341\u5206\u306a\u6d3b\u8e8d\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>HTC3\uff08Hypertrichosis terminalis, generalized, with or without gingival hyperplasia\uff09\u306f\u3001\u5168\u8eab\u3092\u8986\u3046\u6fc3\u3044\u6bdb\u3068\u3001\u6b6f\u3050\u304d\u306e\u539a\u307f\u304c\u7279\u5fb4\u306e\u975e\u5e38\u306b\u73cd\u3057\u3044\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u53e4\u304f\u304b\u3089\u4f1d\u627f\u306a\u3069\u3067\u4e0d\u601d\u8b70\u306a\u5b58\u5728\u3068\u3057\u3066\u8a9e\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3057\u305f\u304c\u3001\u73fe\u4ee3\u3067\u306f\u300c17\u756a\u67d3\u8272\u4f53\u306b\u3042\u308b\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u30b9\u30a4\u30c3\u30c1\u304c\u3001\u6bdb\u3092\u80b2\u3066\u308b\u6642\u9593\u3092\u9577\u304f\u3057\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u533b\u5b66\u7684\u306a\u539f\u56e0\u304c\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u304a\u5b50\u69d8\u306e\u5916\u898b\u7684\u306a\u7279\u5fb4\u304c\u3069\u306e\u3088\u3046\u306b\u793e\u4f1a\u3068\u95a2\u308f\u3063\u3066\u3044\u304f\u304b\u306f\u5927\u304d\u306a\u4e0d\u5b89\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001HTC3\u306e\u304a\u5b50\u69d8\u305f\u3061\u306f\u77e5\u80fd\u3082\u5185\u81d3\u3082\u5143\u6c17\u3067\u3042\u308a\u3001\u5916\u898b\u4ee5\u5916\u306e\u6a5f\u80fd\u306b\u5927\u304d\u306a\u554f\u984c\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6700\u65b0\u306e\u30ec\u30fc\u30b6\u30fc\u8131\u6bdb\u6280\u8853\u3084\u6b6f\u79d1\u6cbb\u7642\u306b\u3088\u308a\u3001\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u3092\u548c\u3089\u3052\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002\u4f55\u3088\u308a\u3082\u5927\u5207\u306a\u306e\u306f\u3001\u5468\u56f2\u306e\u6b63\u3057\u3044\u7406\u89e3\u3068\u3001\u304a\u5b50\u69d8\u81ea\u8eab\u304c\u81ea\u5206\u306e\u500b\u6027\u3092\u8a87\u308c\u308b\u3088\u3046\u306a\u6e29\u304b\u306a\u30b5\u30dd\u30fc\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u5e0c\u5c11\u3067\u3059\u304c\u3001\u5c02\u9580\u306e\u533b\u5e2b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u30c1\u30fc\u30e0\u3092\u7d44\u307f\u3001\u4e00\u3064\u3072\u3068\u3064\u306e\u8ab2\u984c\u3092\u89e3\u6c7a\u3057\u3066\u3044\u304f\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306f\u7d20\u6674\u3089\u3057\u3044\u4eba\u751f\u3092\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>DeStefano, G. M., et al.<\/strong> (2014). <em>Mutations in the ATP-Binding Cassette Transporter Gene ABCA5 in Congenital Generalized Hypertrichosis Terminalis.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff08HTC3\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u304cABCA5\u3067\u3042\u308b\u3053\u3068\u3092\u7279\u5b9a\u3057\u305f\u3001\u6700\u3082\u91cd\u8981\u306a\u79d1\u5b66\u7684\u8ad6\u6587\u3067\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Fantauzzo, K. A., et al.<\/strong> (2012). <em>Molecular Analysis of a Patient with Ambras Syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30a2\u30f3\u30d6\u30e9\u30b9\u75c7\u5019\u7fa4\uff08\u591a\u6bdb\u75c7\uff09\u306e\u5206\u5b50\u30ec\u30d9\u30eb\u3067\u306e\u89e3\u6790\u3068\u75c7\u4f8b\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Tadin-Strapps, M., et al.<\/strong> (2004). <em>Cloning of the breakpoints of a pericentric inversion of chromosome 17 in a patient with Ambras syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0817\u756a\u67d3\u8272\u4f53\u306e\u9006\u4f4d\u304c\u591a\u6bdb\u75c7\u3092\u5f15\u304d\u8d77\u3053\u3059\u30e1\u30ab\u30cb\u30ba\u30e0\u306b\u3064\u3044\u3066\u306e\u521d\u671f\u306e\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sun, M., et al.<\/strong> (2009). <em>Genomic rearrangements at 17q24.2-q24.3 cause hypertrichosis terminalis with gingival hyperplasia.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0817q24\u9818\u57df\u306e\u30b2\u30ce\u30e0\u69cb\u9020\u7570\u5e38\u304c\u591a\u6bdb\u3068\u6b6f\u8089\u5897\u6b96\u3092\u30bb\u30c3\u30c8\u3067\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u3092\u89e3\u660e\u3057\u305f\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>OMIM (Online Mendelian Inheritance in Man)<\/strong>: <em>#135400 HYPERTRICHOSIS TERMINALIS, GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA; HTC3<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u672c\u75be\u60a3\u306e\u516c\u5f0f\u306a\u907a\u4f1d\u5b66\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\u6700\u65b0\u306e\u7814\u7a76\u77e5\u898b\u304c\u96c6\u7d04\u3055\u308c\u3066\u3044\u307e\u3059\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Congenital Generalized Hypertrichosis Terminalis<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u8a3a\u65ad\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6a19\u6e96\u7684\u306a\u533b\u7642\u6307\u91dd\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-17337","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17337","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17337\/revisions"}],"predecessor-version":[{"id":17340,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17337\/revisions\/17340"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17337"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}