{"id":33670,"date":"2022-07-11T17:52:38","date_gmt":"2022-07-11T08:52:38","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?page_id=33670"},"modified":"2026-04-28T13:54:22","modified_gmt":"2026-04-28T04:54:22","slug":"pontocerebellar-hypoplasia-type-2e","status":"publish","type":"genetic-diseases","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/genetic-diseases2\/pontocerebellar-hypoplasia-type-2e\/","title":{"rendered":"\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682E\u578b"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\">\u6982\u8981<\/h2>\n\n\n\n<p>\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u51682E\u578b\u306f\u3001\u91cd\u5ea6\u306e\u7cbe\u795e\u9045\u6ede\u3001\u9032\u884c\u6027\u5c0f\u982d\u75c7\u3001\u75d9\u7e2e\u3001\u304a\u3088\u3073\u65e9\u671f\u767a\u75c7\u3066\u3093\u304b\u3093\u3092\u7279\u5fb4\u3068\u3059\u308b\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u795e\u7d4c\u5909\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75ab\u5b66<\/h2>\n\n\n\n<p>\u30bf\u30a4\u30d73\uff08PCH3\uff09\u304b\u3089\u30bf\u30a4\u30d710\uff08PCH10\uff09\u3068\u547c\u3070\u308c\u308b\u4ed6\u306e\u5f62\u614b\u306e\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u5168\u306f\u307e\u308c\u3067\u3042\u308b\u3088\u3046\u306b\u601d\u308f\u308c\u3001\u305d\u308c\u305e\u308c\u5c11\u6570\u306e\u500b\u4eba\u3067\u306e\u307f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u539f\u56e0<\/h2>\n\n\n\n<p>\u67d3\u8272\u4f5317p13\u4e0a\u306e VPS53\u907a\u4f1d\u5b50\u306e\u75c5\u539f\u6027\u591a\u69d8\u4f53\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u75c7\u72b6<\/h2>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u7279\u5fb4\u306b\u306f\u3001\u7269\u3092\u3064\u304b\u3080\u3001\u5ea7\u308b\u3001\u6b69\u304f\u3001\u56a5\u4e0b\u306e\u554f\u984c\uff08\u56a5\u4e0b\u969c\u5bb3\uff09\u3001\u4f1a\u8a71\u3092\u542b\u3080\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u6b20\u5982\u306a\u3069\u3092\u542b\u3080\u81ea\u767a\u7684\u306a\u904b\u52d5\u6280\u80fd\u306e\u6b20\u5982\u304c\u898b\u53d7\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7f79\u60a3\u3057\u305f\u5b50\u4f9b\u306f\u901a\u5e38\u3001\u4e73\u5150\u671f\u521d\u671f\u306b\u4e00\u6642\u7684\u306a\u30b8\u30c3\u30bf\u30fc\uff08\u4e00\u822c\u7684\u306a\u30af\u30ed\u30fc\u30cc\u30b9\uff09\u3001\u821e\u8e0f\u75c5\u307e\u305f\u306f\u30b8\u30b9\u30c8\u30cb\u30a2\u3068\u547c\u3070\u308c\u308b\u7570\u5e38\u306a\u52d5\u304d\u306e\u30d1\u30bf\u30fc\u30f3\u3001\u304a\u3088\u3073\u3053\u308f\u3070\u308a\uff08\u75d9\u7e2e\uff09\u3092\u767a\u75c7\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u591a\u304f\u306e\u60a3\u8005\u306f\u8996\u529b\u969c\u5bb3\u3068\u767a\u4f5c\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u8a3a\u65ad<\/h2>\n\n\n\n<p>MRI\u3067\u306f\u3001\u53ef\u5909\u306e\u65b0\u76ae\u8cea\u840e\u7e2e\u3001\u6642\u9593\u306e\u7d4c\u904e\u3001\u5c3e\u72b6\u6838\u982d\u90e8\u306e\u5e73\u5766\u5316\u3001\u304a\u3088\u3073\u5e73\u3089\u306a\u534a\u7403\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u51a0\u72b6\u65ad\u9762\u306e\u5178\u578b\u7684\u306a\u30c8\u30f3\u30dc\u306e\u3088\u3046\u306a\u5c0f\u8133\u30d1\u30bf\u30fc\u30f3\u3092\u4f34\u3046\u6a4b\u5c0f\u8133\u5f62\u6210\u4e0d\u5168\u304c\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u3092\u78ba\u5b9a\u3059\u308b\u305f\u3081\u306b\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u6cbb\u7642<\/h2>\n\n\n\n<p>PCH\u3067\u75c7\u5019\u6027\u3067\u3042\u308a\u3001\u30b8\u30b9\u30c8\u30cb\u30a2\u3001\u30b8\u30b9\u30ad\u30cd\u30b8\u30a2\u3001\u767a\u4f5c\u306e\u6cbb\u7642\u306e\u305f\u3081\u306e\u6295\u85ac\u3001\u304a\u3088\u3073\u7d4c\u76ae\u5185\u8996\u93e1\u7684\u80c3\u763b\u30c1\u30e5\u30fc\u30d6\u6804\u990a\u88dc\u7d66\u304c\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\">\u4e88\u5f8c<\/h2>\n\n\n\n<p>\u969c\u5bb3\u306f\u9032\u884c\u6027\u3067\u3042\u308a\u3001\u901a\u5e38\u3001\u4e73\u5150\u671f\u307e\u305f\u306f\u5c0f\u5150\u671f\u306b\u6b7b\u4ea1\u3057\u307e\u3059\u3002\u307e\u308c\u306b\u6210\u4eba\u3092\u8fce\u3048\u308b\u60a3\u8005\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-group references\"><div class=\"wp-block-group__inner-container is-layout-flow wp-block-group-is-layout-flow\">\n<p>\u3010\u53c2\u8003\u6587\u732e\u3011<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>OMIM &#8211; <a href=\"https:\/\/www.omim.org\/entry\/615851\" data-type=\"URL\" data-id=\"https:\/\/www.omim.org\/entry\/615851\">PONTOCEREBELLAR HYPOPLASIA, TYPE 2E; PCH2E<\/a><\/li>\n\n\n\n<li>NIH &#8211; <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/862925\" data-type=\"URL\" data-id=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/862925\">Pontocerebellar hypoplasia type 2E(PCH2E)<\/a><\/li>\n\n\n\n<li>orphanet &#8211; <a href=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&amp;Expert=2524\" data-type=\"URL\" data-id=\"https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?lng=EN&amp;Expert=2524\">Pontocerebellar hypoplasia type 2<\/a><\/li>\n<\/ul>\n<\/div><\/div>\n","protected":false},"featured_media":0,"menu_order":32,"template":"page_gd.php","class_list":["post-33670","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\/33670","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\/33670\/revisions"}],"predecessor-version":[{"id":127753,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/genetic-diseases\/33670\/revisions\/127753"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=33670"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}