{"id":60272,"date":"2023-08-25T09:27:17","date_gmt":"2023-08-25T00:27:17","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=60272"},"modified":"2026-05-08T12:57:20","modified_gmt":"2026-05-08T03:57:20","slug":"congenital-painlessness","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/congenital-painlessness\/","title":{"rendered":"\u5148\u5929\u6027\u7121\u75db\u75c7"},"content":{"rendered":"\n<div style=\"height:30px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u5148\u5929\u6027\u7121\u75db\u7121\u6c57\u75c7\uff08CIPA\uff09\u306f\u3001NTRK1\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u6975\u3081\u3066\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u75db\u899a\u304c\u6d88\u5931\u3057\u3001\u767a\u6c57\u6a5f\u80fd\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u4f53\u6e29\u8abf\u7bc0\u304c\u56f0\u96e3\u306b\u306a\u308a\u3001\u81ea\u5df1\u640d\u50b7\u3084\u611f\u67d3\u75c7\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308a\u307e\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001CIPA\u306e\u75c7\u72b6\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u6cbb\u7642\u7ba1\u7406\u306b\u3064\u3044\u3066\u8a73\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002<\/sup><\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u907a\u4f1d\u5b50\u30fb\u75be\u60a3\u540d<\/h2>\n\n\n\n<p>NTRK1\uff5cCongenital Insensitivity to Pain with Anhidrosis<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6982\u8981 | Overview<\/h2>\n\n\n\n<p>\u5148\u5929\u6027\u7121\u75db\u7121\u6c57\u75c7\uff08Congenital Insensitivity to Pain with Anhidrosis, CIPA\uff09\u306f\u3001<strong>NTRK1<\/strong>\uff08\u795e\u7d4c\u6804\u990a\u56e0\u5b50\u30c1\u30ed\u30b7\u30f3\u30ad\u30ca\u30fc\u30bc\u53d7\u5bb9\u4f531\uff09\u907a\u4f1d\u5b50\u306e\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u6975\u3081\u3066\u7a00\u306a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u75be\u60a3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u3001\u75db\u899a\u306e\u6d88\u5931\u3001\u7121\u6c57\u75c7\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u767a\u71b1\u767a\u4f5c\u3001\u81ea\u5df1\u640d\u50b7\u884c\u52d5\u306a\u3069\u3092\u7279\u5fb4\u3068\u3057\u3001\u6210\u9577\u3084\u795e\u7d4c\u767a\u9054\u306b\u3082\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3002<\/p>\n\n\n\n<p>CIPA\u306f\u3001\u907a\u4f1d\u6027\u611f\u899a\u81ea\u5f8b\u795e\u7d4c\u969c\u5bb3\uff08Hereditary Sensory and Autonomic Neuropathy, HSAN\uff09\u306eIV\u578b\uff08HSAN-IV\uff09\u306b\u5206\u985e\u3055\u308c\u308b\u3002HSAN\u306f5\u3064\u306e\u4e3b\u8981\u306a\u4e9c\u578b\u306b\u5206\u3051\u3089\u308c\u308b\u304c\u3001CIPA\u306f\u305d\u306e\u4e2d\u3067\u3082\u7279\u306b\u91cd\u7be4\u306a\u75c5\u578b\u306e\u4e00\u3064\u3067\u3042\u308b\u3002NTRK1\u907a\u4f1d\u5b50\u306f\u795e\u7d4c\u6210\u9577\u56e0\u5b50\uff08NGF\uff09\u306e\u9ad8\u89aa\u548c\u6027\u53d7\u5bb9\u4f53<strong>TrkA<\/strong>\u3092\u30b3\u30fc\u30c9\u3057\u3001\u3053\u306e\u53d7\u5bb9\u4f53\u304c\u6a5f\u80fd\u4e0d\u5168\u306b\u9665\u308b\u3053\u3068\u3067\u611f\u899a\u795e\u7d4c\u304a\u3088\u3073\u4ea4\u611f\u795e\u7d4c\u306e\u767a\u9054\u304c\u969c\u5bb3\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66 | Epidemiology<\/h2>\n\n\n\n<p>CIPA\u306e\u6709\u75c5\u7387\u306f\u6975\u3081\u3066\u4f4e\u304f\u3001\u5168\u4e16\u754c\u3067\u306e\u767a\u751f\u7387\u306f\u7d04<strong>1\/125,000,000<\/strong>\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u308b\u3002\u65e5\u672c\u3067\u306f\u7d04<strong>1\/600,000~1\/950,000<\/strong>\u306e\u983b\u5ea6\u3067\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u6771\u30a2\u30b8\u30a2\u3001\u7279\u306b\u65e5\u672c\u3068\u97d3\u56fd\u3067\u306e\u5831\u544a\u304c\u6bd4\u8f03\u7684\u591a\u3044\u3002\u7279\u5b9a\u306e\u6c11\u65cf\u96c6\u56e3\u306b\u304a\u3044\u3066\u306f\u3001\u7279\u5b9a\u306e\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u5909\u7570\u304c\u8a8d\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u65e5\u672c\u4eba\u60a3\u8005\u306e\u7d0470%\u304c<strong>p.Arg554Glyfs*104\uff08c.1660del\uff09<\/strong>\u3001<strong>c.851-33T&gt;A<\/strong>\u3001<strong>p.Asp674Tyr<\/strong>\u306e\u3044\u305a\u308c\u304b\u306e\u5909\u7570\u3092\u6301\u3064\u3068\u3055\u308c\u308b\u3002\u4e00\u65b9\u3001\u30a4\u30b9\u30e9\u30a8\u30eb\u306e\u30d9\u30c9\u30a6\u30a3\u30f3\u6c11\u65cf\u3067\u306f\u3001\u60a3\u8005\u306e90%\u304cp.Pro621Serfs*12\uff08c.1860_1861insT\uff09\u306e\u5909\u7570\u3092\u6301\u3064\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c5\u56e0 | Etiology<\/h2>\n\n\n\n<p>CIPA\u306f<strong>NTRK1<\/strong>\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u306b\u75c5\u7684\u5909\u7570\u3092\u6301\u3064\u3053\u3068\u306b\u3088\u3063\u3066\u767a\u75c7\u3059\u308b\u3002NTRK1\u306f\u3001\u795e\u7d4c\u6210\u9577\u56e0\u5b50\uff08NGF\uff09\u3068\u7d50\u5408\u3057\u3001\u795e\u7d4c\u7d30\u80de\u306e\u6210\u9577\u3001\u5206\u5316\u3001\u751f\u5b58\u3092\u4fc3\u9032\u3059\u308b\u5f79\u5272\u3092\u62c5\u3046<strong>TrkA\u53d7\u5bb9\u4f53<\/strong>\u3092\u30b3\u30fc\u30c9\u3059\u308b\u3002NGF-TrkA\u7d4c\u8def\u304c\u6a5f\u80fd\u3057\u306a\u3044\u3068\u3001\u5c0f\u5f84\u611f\u899a\u795e\u7d4c\u3068\u4ea4\u611f\u795e\u7d4c\u306e\u767a\u9054\u304c\u969c\u5bb3\u3055\u308c\u3001\u75db\u899a\u6d88\u5931\u3001\u7121\u6c57\u75c7\u3001\u81ea\u5f8b\u795e\u7d4c\u969c\u5bb3\u306a\u3069\u304c\u751f\u3058\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b<strong>130\u7a2e\u985e\u4ee5\u4e0a<\/strong>\u306eNTRK1\u907a\u4f1d\u5b50\u5909\u7570\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u4e3b\u306b<strong>\u30df\u30b9\u30bb\u30f3\u30b9\u5909\u7570\u3001\u30b9\u30d7\u30e9\u30a4\u30b7\u30f3\u30b0\u5909\u7570\u3001\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570<\/strong>\u304c\u5b58\u5728\u3059\u308b\u3002\u7279\u306b\u7d30\u80de\u5916\u30c9\u30e1\u30a4\u30f3\u304a\u3088\u3073\u30c1\u30ed\u30b7\u30f3\u30ad\u30ca\u30fc\u30bc\u30c9\u30e1\u30a4\u30f3\u306b\u5909\u7570\u304c\u591a\u304f\u898b\u3089\u308c\u3001<strong>\u907a\u4f1d\u578b\u3068\u8868\u73fe\u578b\u306e\u660e\u78ba\u306a\u76f8\u95a2\u306f\u8a8d\u3081\u3089\u308c\u3066\u3044\u306a\u3044<\/strong>\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6 | Symptoms<\/h2>\n\n\n\n<p>CIPA\u306e\u4e3b\u8981\u75c7\u72b6\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3042\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75db\u899a\u6d88\u5931<\/strong>\uff1a\u71b1\u50b7\u3084\u9aa8\u6298\u3092\u4f34\u3046\u5916\u50b7\u3092\u81ea\u899a\u3057\u306a\u3044\u3002<\/li>\n\n\n\n<li><strong>\u7121\u6c57\u75c7<\/strong>\uff1a\u767a\u6c57\u6a5f\u80fd\u304c\u6b20\u5982\u3057\u3001\u4f53\u6e29\u8abf\u7bc0\u304c\u56f0\u96e3\u3002<\/li>\n\n\n\n<li><strong>\u767a\u71b1\u767a\u4f5c<\/strong>\uff1a\u611f\u67d3\u75c7\u3068\u306f\u7121\u95a2\u4fc2\u306b\u9ad8\u71b1\u3092\u5448\u3059\u308b\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u5df1\u640d\u50b7\u884c\u52d5<\/strong>\uff1a\u820c\u3084\u6307\u3092\u565b\u3080\u3001\u76ee\u3092\u3053\u3059\u308b\u306a\u3069\u306e\u884c\u52d5\u304c\u5e7c\u5c11\u671f\u304b\u3089\u898b\u3089\u308c\u308b\u3002<\/li>\n\n\n\n<li><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/strong>\uff1a\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u767a\u9054\u9045\u6ede\u3092\u4f34\u3046\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u6298\u304a\u3088\u3073\u95a2\u7bc0\u7570\u5e38<\/strong>\uff1a\u7e70\u308a\u8fd4\u3059\u9aa8\u6298\u3084\u95a2\u7bc0\u8131\u81fc\u3001\u5909\u5f62\u6027\u95a2\u7bc0\u75c7\u304c\u9032\u884c\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u5f8b\u795e\u7d4c\u969c\u5bb3<\/strong>\uff1a\u4f4e\u8840\u5727\u3001\u76ae\u819a\u30fb\u6bdb\u9aea\u30fb\u722a\u306e\u7570\u5e38\u3001\u632f\u52d5\u30fb\u4f4d\u7f6e\u899a\u306e\u6b20\u5982\u306a\u3069\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u691c\u67fb\u30fb\u8a3a\u65ad | Tests &amp; Diagnosis<\/h2>\n\n\n\n<p>CIPA\u306e\u8a3a\u65ad\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u65b9\u6cd5\u304c\u7528\u3044\u3089\u308c\u308b\u3002<\/p>\n\n\n\n<ol start=\"1\" class=\"wp-block-list\">\n<li><strong>\u81e8\u5e8a\u8a3a\u65ad<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u75db\u899a\u6d88\u5931\u3068\u7121\u6c57\u75c7\u306e\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li>\u81ea\u5df1\u640d\u50b7\u884c\u52d5\u3084\u77e5\u7684\u767a\u9054\u9045\u6ede\u306e\u6709\u7121\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u795e\u7d4c\u751f\u7406\u5b66\u7684\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u795e\u7d4c\u4f1d\u5c0e\u691c\u67fb\uff08NCS\uff09<\/strong>\uff1a\u4e0b\u80a2\u306e\u611f\u899a\u795e\u7d4c\u6d3b\u52d5\u96fb\u4f4d\uff08SNAP\uff09\u304c\u6b20\u5982\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u751f\u691c<\/strong>\uff1a\u7121\u9ac4\u795e\u7d4c\u7dda\u7dad\u306e\u6b20\u5982\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6b21\u4e16\u4ee3\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff08NGS\uff09<\/strong>\uff1aNTRK1\u907a\u4f1d\u5b50\u5909\u7570\u306e\u7279\u5b9a\u3002<\/li>\n\n\n\n<li><strong>Sanger\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0<\/strong>\uff1a\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u5909\u7570\u306e\u78ba\u8a8d\u3002<\/li>\n\n\n\n<li><strong>\u5b9a\u91cfPCR\uff08qPCR\uff09\u30fbGap-PCR<\/strong>\uff1a\u5927\u898f\u6a21\u6b20\u5931\u5909\u7570\u306e\u89e3\u6790\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/h2>\n\n\n\n<p>\u73fe\u5728\u3001CIPA\u306e\u6839\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u305b\u305a\u3001<strong>\u5bfe\u75c7\u7642\u6cd5<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f53\u6e29\u7ba1\u7406<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u9ad8\u6e29\u74b0\u5883\u3092\u907f\u3051\u3001\u51b7\u5374\u7642\u6cd5\u3092\u5b9f\u65bd\u3002<\/li>\n\n\n\n<li>\u767a\u71b1\u6642\u306b\u306f\u51b7\u5374\u30b7\u30fc\u30c8\u3084\u6c34\u5206\u88dc\u7d66\u3092\u884c\u3046\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u81ea\u5df1\u640d\u50b7\u9632\u6b62<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u6b6f\u306e\u4fdd\u8b77\u88c5\u7f6e\uff08\u30aa\u30fc\u30e9\u30eb\u30ac\u30fc\u30c9\uff09\u306e\u4f7f\u7528\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u76ae\u819a\u30fb\u722a\u306e\u30b1\u30a2\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u9aa8\u6298\u30fb\u95a2\u7bc0\u7ba1\u7406<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u7406\u5b66\u7642\u6cd5\u3084\u95a2\u7bc0\u56fa\u5b9a\u3092\u884c\u3044\u3001\u4e8c\u6b21\u7684\u306a\u969c\u5bb3\u3092\u4e88\u9632\u3002<\/li>\n\n\n\n<li>\u9aa8\u7c97\u9b06\u75c7\u4e88\u9632\u306e\u305f\u3081\u306e\u6804\u990a\u7ba1\u7406\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u67d3\u4e88\u9632<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u76ae\u819a\u306e\u6e05\u6f54\u3092\u4fdd\u3061\u3001\u611f\u67d3\u75c7\u30ea\u30b9\u30af\u3092\u4f4e\u6e1b\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u767a\u9054\u652f\u63f4<\/strong>\uff1a\n<ul class=\"wp-block-list\">\n<li>\u500b\u5225\u6559\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\u3084\u884c\u52d5\u7642\u6cd5\u306e\u5c0e\u5165\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c | Prognosis<\/h2>\n\n\n\n<p>CIPA\u306e\u4e88\u5f8c\u306f\u3001\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u306b\u5927\u304d\u304f\u4f9d\u5b58\u3059\u308b\u3002<strong>\u611f\u67d3\u75c7\u3001\u9aa8\u6298\u3001\u81ea\u5df1\u640d\u50b7\u306b\u3088\u308b\u5408\u4f75\u75c7\u304c\u4e3b\u8981\u306a\u6b7b\u4ea1\u539f\u56e0<\/strong>\u3067\u3042\u308a\u3001\u9069\u5207\u306a\u7ba1\u7406\u3092\u884c\u308f\u306a\u3051\u308c\u3070<strong>10\u4ee3\u3067\u306e\u6b7b\u4ea1\u7387\u304c\u9ad8\u3044<\/strong>\u3068\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306e\u75c7\u4f8b\u3067\u306f\u6210\u4eba\u671f\u307e\u3067\u751f\u5b58\u53ef\u80fd\u3002<\/li>\n\n\n\n<li>\u65e9\u671f\u8a3a\u65ad\u3068\u9069\u5207\u306a\u7ba1\u7406\u306b\u3088\u308a\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u304c\u5411\u4e0a\u3002<\/li>\n\n\n\n<li>\u81f4\u6b7b\u7684\u306a\u5408\u4f75\u75c7\uff08\u6557\u8840\u75c7\u3001\u58ca\u75bd\u3001\u91cd\u5ea6\u306e\u9aa8\u5909\u5f62\uff09\u3092\u4e88\u9632\u3059\u308b\u3053\u3068\u304c\u91cd\u8981\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u8fd1\u5e74\u3001NGF-TrkA\u7d4c\u8def\u3092\u6a19\u7684\u3068\u3057\u305f<strong>\u5206\u5b50\u6a19\u7684\u6cbb\u7642<\/strong>\u306e\u7814\u7a76\u304c\u9032\u3081\u3089\u308c\u3066\u304a\u308a\u3001\u4eca\u5f8c\u306e\u6cbb\u7642\u6cd5\u958b\u767a\u304c\u671f\u5f85\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u5f15\u7528\u6587\u732e\uff5cReferences<\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10048-021-00668-z\">Echaniz-Laguna, A., Altuzarra, C., Verloes, A. <em>et al.<\/em> <em>NTRK1<\/em> gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study. <em>Neurogenetics<\/em> <strong>22<\/strong>, 333\u2013341 (2021). https:\/\/doi.org\/10.1007\/s10048-021-00668-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fped.2021.638190\">Li, L., Jia, C., Tang, Y., Kong, Y., Xia, Y., &amp; Ma, L. (2021). Novel gross deletion mutations in ntrk1 gene associated with congenital insensitivity to pain with anhidrosis. <em>Frontiers in Pediatrics<\/em>, <em>9<\/em>, 638190. https:\/\/doi.org\/10.3389\/fped.2021.638190<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1097\/j.pain.0000000000003252\">Li, S., Ren, X., Guan, Y., Zhao, F., Cao, Y., Geng, X., Wang, Y., Wu, N., Wu, L., &amp; Zhao, X. (2024). Genetic etiology study in a large cohort with congenital insensitivity to pain with anhidrosis. <em>Pain<\/em>, <em>165<\/em>(9), 1926\u20131943. https:\/\/doi.org\/10.1097\/j.pain.0000000000003252<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/mgg3.1839\">Li, S., Hu, H., Xu, J., Feng, Z., Sun, Y., Chen, X., Yang, K., Li, Y., &amp; Zhang, D. (2021). Identification of novel variations in the <em>NTRK1<\/em> gene causing congenital insensitivity to pain with anhidrosis. <em>Molecular Genetics &amp; Genomic Medicine<\/em>, <em>9<\/em>(11), e1839. https:\/\/doi.org\/10.1002\/mgg3.1839<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.3389\/fgene.2024.1345081\">Sun, L., Dai, J., Zhang, Y., Zhou, L., Ren, Y., &amp; Wang, H. (2024). A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family. <em>Frontiers in Genetics<\/em>, <em>15<\/em>, 1345081. https:\/\/doi.org\/10.3389\/fgene.2024.1345081<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\">\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u5148\u5929\u6027\u7121\u75db\u7121\u6c57\u75c7, CIPA, NTRK1, \u907a\u4f1d\u6027\u75be\u60a3, \u7121\u6c57\u75c7, \u75db\u899a\u6d88\u5931, \u81ea\u5df1\u640d\u50b7, \u907a\u4f1d\u5b50\u5909\u7570, HSAN IV, TrkA, \u795e\u7d4c\u6804\u990a\u56e0\u5b50, \u8a3a\u65ad\u3068\u6cbb\u7642<\/sup><\/sup><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-60272","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\/60272","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":10,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60272\/revisions"}],"predecessor-version":[{"id":128096,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/60272\/revisions\/128096"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=60272"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}