{"id":122074,"date":"2026-01-08T16:56:32","date_gmt":"2026-01-08T07:56:32","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?post_type=genetic-diseases&#038;p=122074"},"modified":"2026-03-03T13:42:53","modified_gmt":"2026-03-03T04:42:53","slug":"smith-lemli-opitz-syndrome-dhcr7","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/smith-lemli-opitz-syndrome-dhcr7\/","title":{"rendered":"\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08DHCR7\u95a2\u9023\uff09"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u6982\u8981<\/strong><\/h2>\n\n\n\n<p>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4\uff08Smith-Lemli-Opitz Syndrome\uff1aSLOS\uff09\u306f\u3001\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u5408\u6210\u7d4c\u8def\u306e\u6700\u7d42\u6bb5\u968e\u306b\u95a2\u4e0e\u3059\u308b\u9175\u7d207-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u9084\u5143\u9175\u7d20\uff08DHCR7\uff09\u306e\u6b20\u640d\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u5148\u5929\u6027\u4ee3\u8b1d\u7570\u5e38\u75c7\u3067\u3059\u3002DHCR7\u6d3b\u6027\u4f4e\u4e0b\u306b\u3088\u308a\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u304c\u5341\u5206\u306b\u5408\u6210\u3055\u308c\u305a\u3001\u305d\u306e\u524d\u99c6\u4f53\u3067\u3042\u308b7-\u30c7\u30d2\u30c9\u30ed\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\uff087-DHC\uff09\u304c\u4f53\u5185\u306b\u84c4\u7a4d\u3057\u307e\u3059\u3002\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u306f\u7d30\u80de\u819c\u306e\u69cb\u6210\u6210\u5206\u3067\u3042\u308b\u3060\u3051\u3067\u306a\u304f\u3001\u30db\u30eb\u30e2\u30f3\u5408\u6210\u3001\u795e\u7d4c\u767a\u9054\u3001\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u306b\u91cd\u8981\u3067\u3042\u308a\u3001\u305d\u306e\u6b20\u4e4f\u306f\u591a\u81d3\u5668\u306e\u5f62\u6210\u7570\u5e38\u3068\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>SLOS\u306f\u5148\u5929\u5947\u5f62\u75c7\u5019\u7fa4\u3068\u4ee3\u8b1d\u75be\u60a3\u306e\u4e21\u5074\u9762\u3092\u6301\u3061\u3001\u8efd\u75c7\u4f8b\u304b\u3089\u81f4\u6b7b\u7684\u91cd\u75c7\u4f8b\u307e\u3067\u5e45\u5e83\u3044\u8868\u73fe\u578b\u3092\u793a\u3057\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75ab\u5b66<\/strong><\/h2>\n\n\n\n<p>SLOS\u306e\u6709\u75c5\u7387\u306f\u7d042\u4e07\u301c6\u4e07\u4eba\u306b1\u4eba\u3068\u63a8\u5b9a\u3055\u308c\u3001\u6b27\u7c73\u3067\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u3067\u306f\u7a00\u306a\u75be\u60a3\u3067\u3059\u3002(PMC)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306fDHCR7\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ec\u30eb\u75c5\u7684\u5909\u7570\u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002DHCR7\u907a\u4f1d\u5b50\u306f\u30d2\u30c811\u756a\u67d3\u8272\u4f53\uff0811q13\uff09\u306b\u4f4d\u7f6e\u3057\u30017-DHC\u3092\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u3078\u9084\u5143\u3059\u308b\u9175\u7d20\u3092\u30b3\u30fc\u30c9\u3057\u307e\u3059\u3002\u3053\u308c\u304c\u6b20\u640d\u3059\u308b\u3068\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4e0d\u8db3\u304c\u751f\u3058\u307e\u3059\u3002(\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af)<\/p>\n\n\n\n<p>\u907a\u4f1d\u5f62\u5f0f\u306f\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\u3067\u3059\u3002(malacards.org)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u75c7\u72b6<\/strong><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u4e2d\u67a2\u795e\u7d4c\u7cfb<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u69d8\u884c\u52d5<\/li>\n\n\n\n<li>\u3051\u3044\u308c\u3093<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u9854\u8c8c\u30fb\u5916\u8868\u5947\u5f62<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u982d\u75c7<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u56db\u80a2<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5408\u6307\u75c7\uff08\u7279\u306b\u7b2c2\u30fb3\u8dbe\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><strong>\u5185\u81d3<\/strong><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5947\u5f62<\/li>\n\n\n\n<li>\u814e\u5947\u5f62<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u8840\u4e2d7-DHC\u9ad8\u5024<\/li>\n\n\n\n<li>\u8840\u4e2d\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u4f4e\u5024<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u8a3a\u65ad\uff08DHCR7\u89e3\u6790\uff09(PMC)<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30ec\u30b9\u30c6\u30ed\u30fc\u30eb\u88dc\u5145<\/li>\n\n\n\n<li>\u98df\u4e8b\u7642\u6cd5<\/li>\n\n\n\n<li>\u767a\u9054\u652f\u63f4<\/li>\n\n\n\n<li>\u5947\u5f62\u306b\u5bfe\u3059\u308b\u5916\u79d1\u6cbb\u7642<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<p>\u30b9\u30df\u30b9\u30fb\u30ec\u30e0\u30ea\u30fb\u30aa\u30d4\u30c3\u30c4\u75c7\u5019\u7fa4 \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)<br>Tint GS et al. Defective cholesterol biosynthesis associated with SLOS. N Engl J Med. 1994.(NEJM)<br>Smith-Lemli-Opitz Syndrome \u2014 GeneReviews, PubMed Central.(PMC)<br>Smith-Lemli-Opitz Syndrome \u2014 Malacards Rare Disease Database.(malacards.org)<\/p>\n\n\n\n<p><\/p>\n","protected":false},"featured_media":0,"menu_order":0,"template":"page_gd.php","class_list":["post-122074","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\/122074","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122074\/revisions"}],"predecessor-version":[{"id":125257,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/122074\/revisions\/125257"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=122074"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}