{"id":1658,"date":"2021-09-08T14:53:29","date_gmt":"2021-09-08T14:53:29","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1658"},"modified":"2026-02-23T21:12:55","modified_gmt":"2026-02-23T21:12:55","slug":"biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/","title":{"rendered":"Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch)"},"content":{"rendered":"<p>Pulmonary arterial hypertension (PAH) is a rare disease in which high blood pressure in vessels of the lung leads to heart failure and premature death. PAH is caused by various genetic and environmental factors, including recently identified autosomal dominant <em>ATP13A3<\/em> variants causing adult-onset PAH. We report three families with a novel, autosomal recessive form of severe childhood-onset PAH due to two variant copies of <em>ATP13A3<\/em>. The children were largely resistant to treatment and four died in early childhood. The data are consistent with a dose-dependent effect of <em>ATP13A3<\/em> variant copy number in which two variant copies cause severe, early-onset PAH. (<a href=\"https:\/\/jmg.bmj.com\/content\/early\/2021\/09\/07\/jmedgenet-2021-107831\">https:\/\/jmg.bmj.com\/content\/early\/2021\/09\/07\/jmedgenet-2021-107831<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/untitled-47\/\" rel=\"attachment wp-att-1659\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1659\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled-300x205.png\" alt=\"\" width=\"300\" height=\"205\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled-300x205.png 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled-1024x698.png 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled-768x524.png 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled-640x436.png 640w, https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled.png 1220w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Pulmonary arterial hypertension (PAH) is a rare disease in which high blood pressure in vessels of the lung leads to heart failure and premature death. PAH is caused by various genetic and environmental factors, including recently identified autosomal dominant ATP13A3 variants causing adult-onset PAH. We report three families with a novel, autosomal recessive form of [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-1658","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Pulmonary arterial hypertension (PAH) is a rare disease in which high blood pressure in vessels of the lung leads to heart failure and premature death. PAH is caused by various genetic and environmental factors, including recently identified autosomal dominant ATP13A3 variants causing adult-onset PAH. We report three families with a novel, autosomal recessive form of [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-09-08T14:53:29+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T21:12:55+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled.png\" \/>\n\t<meta property=\"og:image:width\" content=\"1220\" \/>\n\t<meta property=\"og:image:height\" content=\"832\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/png\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/08\\\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/08\\\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch)\",\"datePublished\":\"2021-09-08T14:53:29+00:00\",\"dateModified\":\"2026-02-23T21:12:55+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/08\\\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\\\/\"},\"wordCount\":133,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/08\\\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2021\\\/09\\\/Untitled-300x205.png\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/08\\\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/08\\\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/09\\\/08\\\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\\\/\",\"name\":\"Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch) - 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We report three families with a novel, autosomal recessive form of [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/","og_site_name":"JMG Contact blog","article_published_time":"2021-09-08T14:53:29+00:00","article_modified_time":"2026-02-23T21:12:55+00:00","og_image":[{"width":1220,"height":832,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled.png","type":"image\/png"}],"author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch)","datePublished":"2021-09-08T14:53:29+00:00","dateModified":"2026-02-23T21:12:55+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/"},"wordCount":133,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2021\/09\/Untitled-300x205.png","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/","url":"https:\/\/blogs.bmj.com\/jmg\/2021\/09\/08\/biallelic-variants-of-atp13a3-cause-dose-dependent-childhood-onset-pulmonary-arterial-hypertension-characterized-by-extreme-morbidity-and-mortality\/","name":"Biallelic variants of ATP13A3 cause dose-dependent childhood-onset pulmonary arterial hypertension characterized by extreme morbidity and mortality (Contributed by Dr. Carrie Welch) - 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