{"id":101118,"date":"2025-06-12T16:15:51","date_gmt":"2025-06-12T07:15:51","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=101118"},"modified":"2026-03-04T11:56:18","modified_gmt":"2026-03-04T02:56:18","slug":"rhizomelic-chondrodysplasia-punctata-type-3","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/","title":{"rendered":"\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u30bf\u30a4\u30d73\u3010AGPS\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_84 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\" >\u3084\u3055\u3057\u3044\u307e\u3068\u3081<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\" >\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88%E5%8F%A4%E5%85%B8%E7%9A%84RCDP3%EF%BC%89\" >\u5178\u578b\u7684\u306a\u75c7\u72b6\uff08\u53e4\u5178\u7684RCDP3\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E8%BB%BD%E7%97%87%E5%9E%8B%EF%BC%88%E9%9D%9E%E5%85%B8%E5%9E%8B%E5%9E%8B%E3%83%BBmild_RCDP%EF%BC%89\" >\u8efd\u75c7\u578b\uff08\u975e\u5178\u578b\u578b\u30fbmild RCDP\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u751f\u5316\u5b66\u7684\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\" >\u753b\u50cf\u691c\u67fb<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\" >\u907a\u4f1d\u5b66\u7684\u691c\u67fb<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/rhizomelic-chondrodysplasia-punctata-type-3\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <p>\n\u3053\u306e\u30da\u30fc\u30b8\u3067\u306f\u3001\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7\u30bf\u30a4\u30d73\uff08Rhizomelic Chondrodysplasia Punctata type 3\uff1aRCDP3\uff09\u3068\u3044\u3046\u3001\u305f\u3044\u3078\u3093\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u306b\u3064\u3044\u3066\u3001\u308f\u304b\u308a\u3084\u3059\u304f\u4e01\u5be7\u306b\u3054\u8aac\u660e\u3057\u3066\u3044\u307e\u3059\u3002<br>\nRCDP3\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u9aa8\u3084\u767a\u9054\u3001\u76ee\u3084\u547c\u5438\u306a\u3069\u306b\u3055\u307e\u3056\u307e\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75c5\u6c17\u3067\u3059\u3002<br>\n\u305d\u306e\u539f\u56e0\u3084\u75c7\u72b6\u3001\u691c\u67fb\u30fb\u8a3a\u65ad\u306e\u65b9\u6cd5\u3001\u65e5\u3005\u306e\u30b1\u30a2\u3084\u6cbb\u7642\u3001\u305d\u3057\u3066\u5c06\u6765\u306b\u3064\u3044\u3066\u3001\u533b\u7642\u306e\u5c02\u9580\u77e5\u8b58\u306b\u3082\u3068\u3065\u3044\u3066\u6b63\u78ba\u306b\u307e\u3068\u3081\u3066\u3044\u307e\u3059\u3002<br>\n\u3054\u5bb6\u65cf\u3084\u3054\u672c\u4eba\u304c\u5c11\u3057\u3067\u3082\u5b89\u5fc3\u3057\u3066\u5411\u304d\u5408\u3048\u308b\u3088\u3046\u3001\u5c02\u9580\u7528\u8a9e\u306b\u306f\u3084\u3055\u3057\u3044\u8aac\u660e\u3082\u305d\u3048\u3066\u3044\u307e\u3059\u3002<br>\n\u304a\u5b50\u3055\u307e\u306e\u6210\u9577\u3084\u75c5\u6c17\u306e\u3053\u3068\u3067\u4e0d\u5b89\u3092\u611f\u3058\u3066\u304a\u3089\u308c\u308b\u65b9\u3001\u533b\u7642\u8005\u306e\u65b9\u3001\u7814\u7a76\u306b\u95a2\u5fc3\u306e\u3042\u308b\u65b9\u306b\u3082\u5f79\u7acb\u3064\u5185\u5bb9\u3067\u3059\u3002\n<\/p>\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>AGPS<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"25\" src=\"\/nipt\/wp-content\/uploads\/2025\/06\/AGPS-hgtIdeo_genome_36105d_a74060-1024x25.png\" alt=\"AGPS\" class=\"wp-image-101122\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u95a2\u4fc2\u3059\u308b\u907a\u4f1d\u5b50\u540d\uff1aAGPS\uff08\u30a2\u30eb\u30ad\u30eb\u30b0\u30ea\u30bb\u30ed\u30f3\u30ea\u30f3\u9178\u5408\u6210\u9175\u7d20\uff1aAlkylglycerone Phosphate Synthase\uff09<br>\u67d3\u8272\u4f53\u4e0a\u306e\u4f4d\u7f6e\uff1a\u7b2c2\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0931.2\u9818\u57df\uff082q31.2\uff09<br>\u907a\u4f1d\u5f62\u5f0f\uff1a\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08\u3058\u3087\u3046\u305b\u3093\u3057\u3087\u305f\u3044 \u308c\u3063\u305b\u3044 \u3044\u3067\u3093\uff09<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001AGPS\u907a\u4f1d\u5b50\u306b\u539f\u56e0\u3068\u306a\u308b\u5909\u7570\uff08\u3078\u3093\u3044\uff09\u304c\u3042\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002AGPS\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u5185\u306e\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\uff08Peroxisome\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u5c0f\u3055\u306a\u69cb\u9020\u306e\u4e2d\u3067\u50cd\u304f\u9175\u7d20\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002\u3053\u306e\u9175\u7d20\u306f\u300c\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\uff08Plasmalogen\uff09\u300d\u3068\u3044\u3046\u7279\u5225\u306a\u8102\u8cea\uff08\u3057\u3057\u3064\uff1a\u3042\u3076\u3089\u306e\u6210\u5206\uff09\u3092\u5408\u6210\u3059\u308b\u306e\u306b\u6b20\u304b\u305b\u307e\u305b\u3093\u3002\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u306f\u3001\u795e\u7d4c\u3001\u5fc3\u81d3\u3001\u80ba\u306a\u3069\u306e\u7d30\u80de\u819c\u306b\u591a\u304f\u542b\u307e\u308c\u3001\u4f53\u306e\u6a5f\u80fd\u3092\u4fdd\u3064\u305f\u3081\u306b\u3068\u3066\u3082\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u75c5\u540d\uff1a\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7\u30bf\u30a4\u30d73\uff08Rhizomelic Chondrodysplasia Punctata Type 3\uff1a\u7565\u79f0RCDP3\uff09<\/p>\n\n\n\n<p>\u5225\u540d\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>AGPS\u6b20\u640d\u75c7\uff08AGPS Deficiency\uff09<\/li>\n\n\n\n<li>\u30a2\u30eb\u30ad\u30eb\u30b0\u30ea\u30bb\u30ed\u30f3\u30ea\u30f3\u9178\u5408\u6210\u9175\u7d20\u6b20\u640d\u75c7\uff08Alkylglycerone Phosphate Synthase Deficiency\uff09<\/li>\n\n\n\n<li>Alkyldihydroxyacetonephosphate Synthase Deficiency<\/li>\n\n\n\n<li>Rhizomelic Chondrodysplasia Punctata caused by mutation in AGPS<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7\uff08RCDP\uff09\u306f\u3001\u907a\u4f1d\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3001\u4f53\u306e\u4e2d\u306e\u300c\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u300d\u3068\u3044\u3046\u90e8\u5206\u306e\u50cd\u304d\u306b\u7570\u5e38\u304c\u3042\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002RCDP3\u306f\u3001AGPS\u3068\u3044\u30461\u3064\u306e\u9175\u7d20\u3060\u3051\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u30bf\u30a4\u30d7\u3067\u3001\u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u306e\u69cb\u9020\u81ea\u4f53\u306b\u306f\u554f\u984c\u304c\u306a\u3044\u306e\u304c\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u306f\u3001\u8155\u3084\u592a\u3082\u3082\u306e\u9aa8\u304c\u77ed\u304f\u306a\u308b\u3053\u3068\uff08\u3053\u308c\u3092\u300c\u30ea\u30be\u30e1\u30ea\u30a2\uff08Rhizomelia\uff09\u300d\u3068\u3044\u3044\u307e\u3059\uff09\u3001\u9aa8\u306e\u767a\u9054\u306e\u7570\u5e38\u3001\u767d\u5185\u969c\uff08\u751f\u307e\u308c\u3064\u304d\u306e\u76ee\u306e\u6fc1\u308a\uff09\u3001\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u7b4b\u8089\u306e\u3053\u308f\u3070\u308a\u306a\u3069\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>RCDP\u306b\u306f5\u3064\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u304c\u3001RCDP3\u306f\u6700\u3082\u307e\u308c\u306a\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/xlhypohidrotic-ectodermal-dysplasia\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">X\u9023\u9396\u6027\u4f4e\u6c57\u6027\u5916\u80da\u8449\u7570\u5f62\u6210\u3010EDA\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP\u5168\u4f53\u3068\u3057\u3066\u306f\u3001\u51fa\u751f10\u4e07\u4eba\u3042\u305f\u308a0.5\u301c0.7\u4eba\u7a0b\u5ea6\u3068\u3044\u3046\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002\u305d\u306e\u4e2d\u3067\u3082RCDP3\u306f\u3055\u3089\u306b\u307e\u308c\u3067\u3001\u4e16\u754c\u3067\u3053\u308c\u307e\u3067\u306b\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u78ba\u8a8d\u3055\u308c\u305f\u60a3\u8005\u6570\u306f10\u4f8b\u672a\u6e80\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u907a\u4f1d\u5b50\u306e\u60c5\u5831\u3092\u89e3\u6790\u3059\u308b\u65b9\u6cd5\u306b\u3088\u308a\u3001\u30a2\u30e1\u30ea\u30ab\u3068\u30e8\u30fc\u30ed\u30c3\u30d1\u306e\u4e3b\u89815\u30ab\u56fd\uff08\u30a4\u30ae\u30ea\u30b9\u3001\u30c9\u30a4\u30c4\u3001\u30d5\u30e9\u30f3\u30b9\u3001\u30a4\u30bf\u30ea\u30a2\u3001\u30b9\u30da\u30a4\u30f3\uff09\u3092\u5408\u308f\u305b\u3066\u3001\u5e74\u95931\u4f8b\u672a\u6e80\u3057\u304b\u65b0\u305f\u306a\u60a3\u8005\u304c\u751f\u307e\u308c\u306a\u3044\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>RCDP3\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u305fAGPS\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u308a\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u3068\u3044\u3046\u91cd\u8981\u306a\u8102\u8cea\u3092\u4f5c\u308b\u5de5\u7a0b\u304c\u6b62\u307e\u3063\u3066\u3057\u307e\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u306f\u3001\u7d30\u80de\u819c\u306e\u67d4\u8edf\u6027\u3092\u4fdd\u3064\u30fb\u795e\u7d4c\u306e\u50cd\u304d\u3092\u5b88\u308b\u30fb\u6d3b\u6027\u9178\u7d20\uff08\u7d30\u80de\u3092\u50b7\u3064\u3051\u308b\u7269\u8cea\uff09\u304b\u3089\u7d30\u80de\u3092\u5b88\u308b\u3068\u3044\u3063\u305f\u3001\u5927\u5207\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>AGPS\u306e\u50cd\u304d\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u304c\u4f5c\u3089\u308c\u306a\u304f\u306a\u308a\u3001\u3055\u307e\u3056\u307e\u306a\u8eab\u4f53\u306e\u6a5f\u80fd\u3084\u767a\u9054\u306b\u969c\u5bb3\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%85%B8%E5%9E%8B%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88%E5%8F%A4%E5%85%B8%E7%9A%84RCDP3%EF%BC%89\"><\/span>\u5178\u578b\u7684\u306a\u75c7\u72b6\uff08\u53e4\u5178\u7684RCDP3\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9aa8\u306e\u7570\u5e38\uff1a\u4e0a\u8155\u9aa8\u3084\u5927\u817f\u9aa8\u306e\u77ed\u7e2e\uff08\u30ea\u30be\u30e1\u30ea\u30a2\uff09\u3001\u9aa8\u7aef\u90e8\u306e\u77f3\u7070\u5316\uff08\u70b9\u72b6\u7570\u5f62\u6210\uff09\u3001\u80cc\u9aa8\u306e\u5909\u5f62<\/li>\n\n\n\n<li>\u9854\u306e\u7279\u5fb4\uff1a\u984d\u304c\u5e83\u3044\u3001\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\u3001\u9854\u306e\u4e2d\u592e\u304c\u3078\u3053\u3093\u3067\u898b\u3048\u308b\uff08\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\uff09\u3001\u9f3b\u304c\u5c0f\u3055\u304f\u4e0a\u5411\u304d\u3001\u8033\u304c\u4f4e\u3044\u4f4d\u7f6e\u306b\u3042\u308b<\/li>\n\n\n\n<li>\u773c\u306e\u7570\u5e38\uff1a\u4e21\u76ee\u306b\u767d\u5185\u969c\uff08\u5148\u5929\u6027\u3082\u3057\u304f\u306f\u4e73\u5150\u671f\u65e9\u671f\u306b\u767a\u75c7\uff09\u3001\u659c\u8996\u3001\u773c\u632f<\/li>\n\n\n\n<li>\u8133\u795e\u7d4c\u306e\u75c7\u72b6\uff1a\u91cd\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\u3001\u3051\u3044\u308c\u3093\u3001\u7b4b\u7dca\u5f35\u306e\u4f4e\u4e0b\u307e\u305f\u306f\u4ea2\u9032\uff08\u4eee\u6b7b\u3001\u75d9\u7e2e\uff09<\/li>\n\n\n\n<li>\u6210\u9577\u969c\u5bb3\uff1a\u51fa\u751f\u6642\u304b\u3089\u306e\u8457\u3057\u3044\u4f4e\u8eab\u9577\u3068\u4f4e\u4f53\u91cd<\/li>\n\n\n\n<li>\u547c\u5438\u5668\uff1a\u7e70\u308a\u8fd4\u3059\u80ba\u708e\u3084\u547c\u5438\u4e0d\u5168<\/li>\n\n\n\n<li>\u5fc3\u81d3\uff1a\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u306a\u3069\u306e\u5fc3\u5947\u5f62\uff08\u5834\u5408\u306b\u3088\u308a\uff09<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%BB%BD%E7%97%87%E5%9E%8B%EF%BC%88%E9%9D%9E%E5%85%B8%E5%9E%8B%E5%9E%8B%E3%83%BBmild_RCDP%EF%BC%89\"><\/span>\u8efd\u75c7\u578b\uff08\u975e\u5178\u578b\u578b\u30fbmild RCDP\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u81ea\u529b\u6b69\u884c\u3084\u7c21\u5358\u306a\u8a00\u8449\u306e\u4f7f\u7528\u304c\u53ef\u80fd\u306a\u4f8b\u3082\u3042\u308a<\/li>\n\n\n\n<li>\u95a2\u7bc0\u306e\u62d8\u7e2e\u3084\u810a\u67f1\u5074\u5f2f\u75c7\uff08\u305b\u304d\u3061\u3085\u3046\u305d\u304f\u308f\u3093\u3057\u3087\u3046\uff09<\/li>\n\n\n\n<li>\u767a\u9054\u969c\u5bb3\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/adhd-genetics-symptoms-support\/\">ADHD<\/a>\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/autism-spectrum-disorder-genetics\/\">\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7<\/a>\u3001\u5f37\u8feb\u6027\u969c\u5bb3\u3001\u4e0d\u5b89\u75c7\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u3084\u6210\u4eba\u307e\u3067\u751f\u5b58\u3059\u308b\u60a3\u8005\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%9F%E5%8C%96%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span>\u751f\u5316\u5b66\u7684\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8d64\u8840\u7403\u4e2d\u306e\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u91cf\u306e\u4f4e\u4e0b\uff1a\u5178\u578b\u4f8b\u3067\u306f\u307b\u3068\u3093\u3069\u691c\u51fa\u3055\u308c\u305a\u3001\u8efd\u75c7\u4f8b\u3067\u306f\u4e00\u90e8\u6b8b\u5b58\u3042\u308a<\/li>\n\n\n\n<li>\u8840\u4e2d\u30d5\u30a3\u30bf\u30f3\u9178\uff08Phytanic acid\uff09\u306e\u4e0a\u6607\uff1a\u8102\u8cea\u4ee3\u8b1d\u7570\u5e38\u306e\u6307\u6a19<\/li>\n\n\n\n<li>\u8d85\u9577\u9396\u8102\u80aa\u9178\uff08Very Long Chain Fatty Acids\uff1aVLCFA\uff09\uff1a\u901a\u5e38\u306f\u6b63\u5e38\u307e\u305f\u306f\u8efd\u5ea6\u306e\u4e0a\u6607<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%94%BB%E5%83%8F%E6%A4%9C%E6%9F%BB\"><\/span>\u753b\u50cf\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ec\u30f3\u30c8\u30b2\u30f3\u5199\u771f\uff1a\u56db\u80a2\u8fd1\u4f4d\u90e8\u306e\u77ed\u7e2e\u3068\u9aa8\u7aef\u306e\u70b9\u72b6\u77f3\u7070\u5316<\/li>\n\n\n\n<li>MRI\uff08\u8133\uff09\uff1a\u767d\u8cea\u306e\u7570\u5e38\u3001\u8133\u840e\u7e2e<\/li>\n\n\n\n<li>\u8d85\u97f3\u6ce2\u691c\u67fb\uff1a\u80a1\u95a2\u7bc0\u306e\u8131\u81fc<\/li>\n\n\n\n<li>\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\uff1a\u5fc3\u81d3\u306e\u69cb\u9020\u7570\u5e38\u3092\u78ba\u8a8d<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB\"><\/span>\u907a\u4f1d\u5b66\u7684\u691c\u67fb<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>AGPS\u907a\u4f1d\u5b50\u306e\u5168\u30a8\u30af\u30bd\u30f3\u89e3\u6790\uff08Sanger\u6cd5\u3084\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff09\uff1a\u75c5\u7684\u306a\u5909\u7570\u3092\u78ba\u5b9a<\/li>\n\n\n\n<li>\u3054\u4e21\u89aa\u306e\u4fdd\u56e0\u8005\uff08\u30ad\u30e3\u30ea\u30a2\uff09\u691c\u67fb\u3082\u91cd\u8981\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306b\u306f\u73fe\u5728\u306e\u3068\u3053\u308d\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u60a3\u8005\u3055\u3093\u306e\u751f\u6d3b\u306e\u8cea\u3092\u5c11\u3057\u3067\u3082\u6539\u5584\u3059\u308b\u305f\u3081\u306e\u5bfe\u75c7\u7642\u6cd5\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5c02\u9580\u7684\u30b1\u30a2\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u79d1\u7684\u7ba1\u7406\uff1a\u767d\u5185\u969c\u624b\u8853\u306a\u3069\u306e\u65e9\u671f\u5bfe\u5fdc<\/li>\n\n\n\n<li>\u6574\u5f62\u5916\u79d1\u7684\u6cbb\u7642\uff1a\u62d8\u7e2e\u306e\u6539\u5584\u3084\u6b69\u884c\u80fd\u529b\u3092\u9ad8\u3081\u308b\u624b\u8853\u30fb\u30ea\u30cf\u30d3\u30ea<\/li>\n\n\n\n<li>\u795e\u7d4c\u5185\u79d1\u7684\u5bfe\u5fdc\uff1a\u3066\u3093\u304b\u3093\u3078\u306e\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u904b\u52d5\u7642\u6cd5<\/li>\n\n\n\n<li>\u547c\u5438\u7ba1\u7406\uff1a\u611f\u67d3\u4e88\u9632\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u9178\u7d20\u3084\u4eba\u5de5\u547c\u5438<\/li>\n\n\n\n<li>\u6804\u990a\u7ba1\u7406\uff1a\u6388\u4e73\u56f0\u96e3\u3084\u6210\u9577\u969c\u5bb3\u306b\u5bfe\u3057\u3066\u30b5\u30dd\u30fc\u30c8<\/li>\n\n\n\n<li>\u5fc3\u7406\u30fb\u884c\u52d5\u652f\u63f4\uff1a\u767a\u9054\u969c\u5bb3\u3078\u306e\u7642\u80b2\u3001\u85ac\u7269\u7642\u6cd5\uff08\u4f8b\uff1a\u30ac\u30d0\u30da\u30f3\u30c1\u30f3\u3001\u30b0\u30a2\u30f3\u30d5\u30a1\u30b7\u30f3\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u307e\u305f\u3001\u3054\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u305f\u60c5\u5831\u63d0\u4f9b\u3068\u3001\u5c06\u6765\u7684\u306a\u598a\u5a20\u306b\u5411\u3051\u305f\u9078\u629e\u80a2\u306e\u63d0\u793a\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/leber-congenital-amaurosis-type-cep290-lca10\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">CEP290\u95a2\u9023Leber\u5148\u5929\u9ed2\u5185\u969c\uff08LCA10\uff09\u3010CEP290\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">Leber\u5148\u5929\u9ed2\u5185\u969c10\u578b\uff08LCA10\uff09\u306f\u3001CEP290\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u306b\u3088\u3063\u3066\u751f\u307e\u308c\u3064\u304d\u8996\u529b\u304c\u5f31\u304f\u306a\u308b\u75c5\u6c17\u3067\u3059\u3002\u75c7\u72b6\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u3001\u6cbb\u7642\u306e\u6700\u65b0\u60c5...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u5178\u578b\u7684\uff08\u91cd\u75c7\u578b\uff09RCDP3\u306e\u5834\u5408\uff1a<br>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f10\u6b73\u307e\u3067\u306b\u4ea1\u304f\u306a\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u4e3b\u306a\u539f\u56e0\u306f\u91cd\u5ea6\u306e\u547c\u5438\u5668\u611f\u67d3\u75c7\u3084\u5168\u8eab\u306e\u5408\u4f75\u75c7\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u975e\u5178\u578b\uff08\u8efd\u75c7\u578b\uff09RCDP3\u306e\u5834\u5408\uff1a<br>\u8efd\u5ea6\u306e\u5909\u7570\u304c\u3042\u308b\u5834\u5408\u3084\u3001\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u304c\u3042\u308b\u7a0b\u5ea6\u6b8b\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001\u6210\u4eba\u671f\u307e\u3067\u306e\u751f\u5b58\u304c\u53ef\u80fd\u3067\u3001\u81ea\u529b\u6b69\u884c\u3084\u8a00\u8449\u306b\u3088\u308b\u3084\u308a\u53d6\u308a\u304c\u3067\u304d\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u8840\u4e2d\u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6fc3\u5ea6\u3068\u75c5\u6c17\u306e\u91cd\u75c7\u5ea6\u306f\u5fc5\u305a\u3057\u3082\u6bd4\u4f8b\u3057\u306a\u3044\u305f\u3081\u3001\u4ed6\u306e\u907a\u4f1d\u7684\u8981\u56e0\u3084\u74b0\u5883\u8981\u56e0\u3082\u5f71\u97ff\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.7759\/cureus.20543\">Shawli, Aiman M., et al. \u2018A Novel Variant in the AGPS Gene Causes the Rare Rhizomelic Chondrodysplasia Punctata Type 3: A Case Report\u2019. <em>Cureus<\/em>, Dec. 2021. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.7759\/cureus.20543.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/jimd.12349\">Fallatah, Wedad, et al. \u2018Clinical, Biochemical, and Molecular Characterization of Mild (Nonclassic) Rhizomelic Chondrodysplasia Punctata\u2019. <em>Journal of Inherited Metabolic Disease<\/em>, vol. 44, no. 4, July 2021, pp. 1021\u201338. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/jimd.12349.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/humu.21623\">Itzkovitz, Brandon, et al. \u2018Functional Characterization of Novel Mutations in GNPAT and AGPS, Causing Rhizomelic Chondrodysplasia Punctata (RCDP) Types 2 and 3\u2019. <em>Human Mutation<\/em>, vol. 33, no. 1, Jan. 2012, pp. 189\u201397. <em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1002\/humu.21623.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s13023-021-01889-z\">Luisman, T., Smith, T., Ritchie, S. <em>et al.<\/em> Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. <em>Orphanet J Rare Dis<\/em> <strong>16<\/strong>, 300 (2021). https:\/\/doi.org\/10.1186\/s13023-021-01889-z<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup><sup>\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u8edf\u9aa8\u7570\u5f62\u6210\u70b9\u72b6\u75c7, RCDP3, AGPS\u6b20\u640d\u75c7, \u30d7\u30e9\u30b9\u30de\u30ed\u30fc\u30b2\u30f3\u6b20\u640d, \u30da\u30eb\u30aa\u30ad\u30b7\u30bd\u30fc\u30e0\u75c5, \u9aa8\u5f62\u6210\u7570\u5e38, \u767d\u5185\u969c, \u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d, \u8102\u8cea\u4ee3\u8b1d\u7570\u5e38, \u70b9\u72b6\u9aa8\u7aef\u7570\u5f62\u6210, <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>, \u767a\u9054\u9045\u6ede, \u547c\u5438\u969c\u5bb3, \u795e\u7d4c\u767a\u9054\u969c\u5bb3, \u907a\u4f1d\u5b50\u8a3a\u65ad, \u652f\u63f4\u7684\u7642\u6cd5<\/sup><\/sup><\/p>\n\n\n\n<!-- \u3042\u3044\u3046\u3048\u304a\u304b\u304d\u304f\u3051\u3053\u3055\u3057\u3059\u305b\u305d\u305f\u3061\u3064\u3066\u3068-->\n\n<script type=\"application\/ld+json\">\n{\n  \"@context\": \"https:\/\/schema.org\",\n  \"@type\": \"MedicalCondition\",\n  \"name\": \"\u30ea\u30be\u30e1\u30ea\u30c3\u30af\u70b9\u72b6\u8edf\u9aa8\u7570\u5f62\u6210\u30bf\u30a4\u30d73\",\n  \"alternateName\": \"Rhizomelic Chondrodysplasia Punctata Type 3\",\n  \"description\": 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