{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0010753/OMIM:314400","label":"Cardiac valvular dysplasia, X-linked","mondoId":"MONDO:0010753","onsetQualifier":null,"recordKeys":["1ffc1f841350ad9dd1b09ec1637fd85c843500cdebe59719f8d5ffbddeb254b8","306c0674fb3e470642740769a95ca312eadab6d3078b93352a351a3af3690ce6","3c05b9c9218aab684919c3718ea3e93fc2484e358bfd5f1acd1039e2a908e293","3d496ca952f2501eb672c9872bb737305579e536856bb3520658b19989eeeb17","41935f01e9c052bfe9769d7abdb46fec7229d2af6d73957fdb501b043569fb3a","467eabf9dcb3bbe18470d51d9c9aa553fac87b5c12a741382886e62ab9ef1979","469b694e19ac04363d398162f0232af08eaa388fb2bdb6a2267719934866ef9f","59369ab7d845c2769b293baa5ad6294d99058df890f3c7958074224c7c5c3497","634afb5375e2a2226ee08e7a4eda42cc8092b74701f3fadcbbf183cf6d472d12","785780f8a12d85e744b1a4422f33c764363c86f00d9619d590cac6f665261387","aee7a3c4c5731158eedf21151af3b296e6cac48fb587ecedcc5ed3148c469141","bc8971e1a36c8cbcfc3c2fd7c8c4260d44d870336d16c2f49e6686dcd5a889d8","de17504e65270b70fe755fd932f2028518f6ace3ec64d473c073511a1af3385f","e96bca768b5bd59d140d8bdce27dc4070054419246fe7351c51a855f60c648b0","f1c2509be1d67c6234eda2bdd14f73d2b10fd01cb95cf53f309b70715e1c52cc","f4e2e90507910a6381e001b247ef7bfada6ff153facf3f42af5394ae40907688"],"recordQualifiers":{},"scopeLabel":"OMIM:314400","sourceIds":["OMIM:314400"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010753/ORPHA:555877","label":"FLNA-related X-linked myxomatous valvular dysplasia","mondoId":"MONDO:0010753","onsetQualifier":null,"recordKeys":["067574646a40acf3816f1130d155af4f00ec5caa7c19ae2ac9b1655f92bc026a","08f7e3c4d9a3c897bfc93554174eb0ea2081f830eedc684b1f5d6204cec067ea","0e28fd29c234d3b8eeb52db7c2a1a735381b71f7d955ef672441b7c4b71657fc","1098db7926e2d9ebfef8278dcd798c67493a47f04dcdc330649edf9819aedca8","2d239a1604d07888cee65b6c14fe6bc71062d5e9e529329c7dd658cd46ed6e2b","37800f14759e0e2d4043dbd3cdb5129a194d481b702098c69315416bd93c3f05","69263c0c6c0683144bf8878d959b8e2c45f466ef05e48faa1c0d42e488e89678","716b160f2172c05b620fe53c583637023fcbdb85a621846b08daf2fece02c704","835a55005b7dad9b4ed383595ad4f0fe535563e82af554c886bd9a135a3e917b","882087826c3a5787592f7876f4fbf78947c668e03dda9d05c900f196f506c49c","adb85b2b87481ad0c34da24cfffc996a92f8cae1cfbae7cfb5a88ac3b700b328","ae75b7524fdfe27819664fc3d115ed760adb9abaede6ffc42b44955fe40ad110","b20fd173beaa191336e5caabc9fa63dcaeaf0d8d4cfc1d8864621af6cdbd15bb","b3cdce02a3539cb358295e4acfb42ec5c5795422c43d9f576796557052dfdf2f","c0a4ee5280079d399247b7a01a2c5e34854ae771caa659f190be444e2ea5de23","c1044ba7b93e13a1efccafb36e66a01b1f6075de9f8168a3dd13a6b55f93296d","ce8f953b02b41150eba5357893d8cda0d6a20474137d1faee00fcc2ccab6a040","d12bd13415b5a6809de960840518db8b765fd18b2c99fd9071d69c4370692fef","d85f0172783e353c69dc759e7df4ef1654ccdd4460a2f7674f2a42e18954c26d","da7549f0a4ea8b29a183a1b942a9de2fbb8186fe562473028ed2d4d5ad49c519","e43809214c6fc4ad06a74ddff6e82f3e38281fe52ca46897afb03a17d165c9e4","e4cb426c32a536315dd62b6e48a9f8382669ecd5020ab6f8d076f79eeb709aeb","f42b1e6af4baafdda41e783c97d9cc77a0251041fd172e48659e6ad875ca327e","f973d0e5b8720a5b118270403e5c62e2006e9e2e01da8d172d3b63bf13b7e983"],"recordQualifiers":{},"scopeLabel":"ORPHA:555877","sourceIds":["ORPHA:555877"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010753/OMIM:314400","MONDO:0010753/ORPHA:555877"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"

Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.

"},"coverage":{"countRecords":4,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":40,"sourceGroups":{"omim":12,"orphanet":24,"published":4}},"features":[{"hpoId":"HP:0001939","label":"Abnormality of metabolism/homeostasis","primary":false},{"hpoId":"HP:0001659","label":"Aortic regurgitation","primary":false},{"hpoId":"HP:0001647","label":"Bicuspid aortic valve","primary":false},{"hpoId":"HP:0001488","label":"Bilateral ptosis","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0000973","label":"Cutis laxa","primary":false},{"hpoId":"HP:0002094","label":"Dyspnea","primary":false},{"hpoId":"HP:0001290","label":"Generalized hypotonia","primary":false},{"hpoId":"HP:0000974","label":"Hyperextensible skin","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0002079","label":"Hypoplasia of the corpus callosum","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0001387","label":"Joint stiffness","primary":false},{"hpoId":"HP:0000343","label":"Long philtrum","primary":false},{"hpoId":"HP:0000347","label":"Micrognathia","primary":false},{"hpoId":"HP:0001653","label":"Mitral regurgitation","primary":false},{"hpoId":"HP:0001634","label":"Mitral valve prolapse","primary":false},{"hpoId":"HP:0031624","label":"Moderate myopia","primary":false},{"hpoId":"HP:0000189","label":"Narrow palate","primary":false},{"hpoId":"HP:0001643","label":"Patent ductus arteriosus","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0032388","label":"Periventricular nodular heterotopia","primary":false},{"hpoId":"HP:0001763","label":"Pes planus","primary":false},{"hpoId":"HP:0000336","label":"Prominent supraorbital ridges","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0010444","label":"Pulmonic regurgitation","primary":false},{"hpoId":"HP:0030718","label":"Right atrial enlargement","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0011580","label":"Short chordae tendineae of the mitral valve","primary":false},{"hpoId":"HP:0006692","label":"Short chordae tendineae of the tricuspid valve","primary":false},{"hpoId":"HP:0000179","label":"Thick lower lip vermilion","primary":false},{"hpoId":"HP:0012471","label":"Thick vermilion border","primary":false},{"hpoId":"HP:0005180","label":"Tricuspid regurgitation","primary":false}],"ledeHtml":"X-linked cardiac valvular dysplasia is a condition characterized by the abnormal development (dysplasia) of heart (cardiac) valves. The normal heart has four valves, two on the left side of the heart and two on the right side, that allow blood to move through the heart and prevent blood from flowing backward. In X-linked cardiac valvular dysplasia, one or more of the four heart valves is thickened and cannot open and close completely when the heart beats and pumps blood. These malformed valves can cause abnormal blood flow and an irregular heart sound during a heartbeat (heart murmur).","mondoId":"MONDO:0010753","records":[{"frequencyKind":"range","key":"067574646a40acf3816f1130d155af4f00ec5caa7c19ae2ac9b1655f92bc026a","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001647","is_excluded":false,"label":"Bicuspid aortic valve","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"08f7e3c4d9a3c897bfc93554174eb0ea2081f830eedc684b1f5d6204cec067ea","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0e28fd29c234d3b8eeb52db7c2a1a735381b71f7d955ef672441b7c4b71657fc","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0031624","is_excluded":false,"label":"Moderate myopia","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"1098db7926e2d9ebfef8278dcd798c67493a47f04dcdc330649edf9819aedca8","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010444","is_excluded":false,"label":"Pulmonic regurgitation","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1ffc1f841350ad9dd1b09ec1637fd85c843500cdebe59719f8d5ffbddeb254b8","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0006692","is_excluded":false,"label":"Short chordae tendineae of the tricuspid valve","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"2d239a1604d07888cee65b6c14fe6bc71062d5e9e529329c7dd658cd46ed6e2b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000347","is_excluded":false,"label":"Micrognathia","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"306c0674fb3e470642740769a95ca312eadab6d3078b93352a351a3af3690ce6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0011580","is_excluded":false,"label":"Short chordae tendineae of the mitral valve","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"37800f14759e0e2d4043dbd3cdb5129a194d481b702098c69315416bd93c3f05","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001659","is_excluded":false,"label":"Aortic regurgitation","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3c05b9c9218aab684919c3718ea3e93fc2484e358bfd5f1acd1039e2a908e293","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0000973","is_excluded":false,"label":"Cutis laxa","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3d496ca952f2501eb672c9872bb737305579e536856bb3520658b19989eeeb17","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0012471","is_excluded":false,"label":"Thick vermilion border","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"41935f01e9c052bfe9769d7abdb46fec7229d2af6d73957fdb501b043569fb3a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"467eabf9dcb3bbe18470d51d9c9aa553fac87b5c12a741382886e62ab9ef1979","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"PCS","frequency_raw":"13/14","hpo_id":"HP:0001659","is_excluded":false,"label":"Aortic regurgitation","onset_id":null,"reference":"PMID:17190868","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"469b694e19ac04363d398162f0232af08eaa388fb2bdb6a2267719934866ef9f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0000336","is_excluded":false,"label":"Prominent supraorbital ridges","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"59369ab7d845c2769b293baa5ad6294d99058df890f3c7958074224c7c5c3497","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"PCS","frequency_raw":"14/14","hpo_id":"HP:0001653","is_excluded":false,"label":"Mitral regurgitation","onset_id":null,"reference":"PMID:17190868","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"634afb5375e2a2226ee08e7a4eda42cc8092b74701f3fadcbbf183cf6d472d12","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0001387","is_excluded":false,"label":"Joint stiffness","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"69263c0c6c0683144bf8878d959b8e2c45f466ef05e48faa1c0d42e488e89678","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000974","is_excluded":false,"label":"Hyperextensible skin","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"716b160f2172c05b620fe53c583637023fcbdb85a621846b08daf2fece02c704","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005180","is_excluded":false,"label":"Tricuspid regurgitation","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"785780f8a12d85e744b1a4422f33c764363c86f00d9619d590cac6f665261387","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"835a55005b7dad9b4ed383595ad4f0fe535563e82af554c886bd9a135a3e917b","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000189","is_excluded":false,"label":"Narrow palate","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"882087826c3a5787592f7876f4fbf78947c668e03dda9d05c900f196f506c49c","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001653","is_excluded":false,"label":"Mitral regurgitation","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"adb85b2b87481ad0c34da24cfffc996a92f8cae1cfbae7cfb5a88ac3b700b328","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002094","is_excluded":false,"label":"Dyspnea","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ae75b7524fdfe27819664fc3d115ed760adb9abaede6ffc42b44955fe40ad110","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001290","is_excluded":false,"label":"Generalized hypotonia","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"aee7a3c4c5731158eedf21151af3b296e6cac48fb587ecedcc5ed3148c469141","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"PCS","frequency_raw":"12/14","hpo_id":"HP:0001634","is_excluded":false,"label":"Mitral valve prolapse","onset_id":null,"reference":"PMID:17190868","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b20fd173beaa191336e5caabc9fa63dcaeaf0d8d4cfc1d8864621af6cdbd15bb","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001488","is_excluded":false,"label":"Bilateral ptosis","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"b3cdce02a3539cb358295e4acfb42ec5c5795422c43d9f576796557052dfdf2f","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001634","is_excluded":false,"label":"Mitral valve prolapse","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"bc8971e1a36c8cbcfc3c2fd7c8c4260d44d870336d16c2f49e6686dcd5a889d8","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"PCS","frequency_raw":"11/14","hpo_id":"HP:0005180","is_excluded":false,"label":"Tricuspid regurgitation","onset_id":null,"reference":"PMID:17190868","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"c0a4ee5280079d399247b7a01a2c5e34854ae771caa659f190be444e2ea5de23","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0032388","is_excluded":false,"label":"Periventricular nodular heterotopia","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c1044ba7b93e13a1efccafb36e66a01b1f6075de9f8168a3dd13a6b55f93296d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000179","is_excluded":false,"label":"Thick lower lip vermilion","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ce8f953b02b41150eba5357893d8cda0d6a20474137d1faee00fcc2ccab6a040","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d12bd13415b5a6809de960840518db8b765fd18b2c99fd9071d69c4370692fef","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"d85f0172783e353c69dc759e7df4ef1654ccdd4460a2f7674f2a42e18954c26d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0001643","is_excluded":false,"label":"Patent ductus arteriosus","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"da7549f0a4ea8b29a183a1b942a9de2fbb8186fe562473028ed2d4d5ad49c519","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0002079","is_excluded":false,"label":"Hypoplasia of the corpus callosum","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"de17504e65270b70fe755fd932f2028518f6ace3ec64d473c073511a1af3385f","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e43809214c6fc4ad06a74ddff6e82f3e38281fe52ca46897afb03a17d165c9e4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0030718","is_excluded":false,"label":"Right atrial enlargement","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e4cb426c32a536315dd62b6e48a9f8382669ecd5020ab6f8d076f79eeb709aeb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001763","is_excluded":false,"label":"Pes planus","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e96bca768b5bd59d140d8bdce27dc4070054419246fe7351c51a855f60c648b0","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f1c2509be1d67c6234eda2bdd14f73d2b10fd01cb95cf53f309b70715e1c52cc","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":"HP:0040284","hpo_id":"HP:0001647","is_excluded":false,"label":"Bicuspid aortic valve","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f42b1e6af4baafdda41e783c97d9cc77a0251041fd172e48659e6ad875ca327e","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000343","is_excluded":false,"label":"Long philtrum","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"f4e2e90507910a6381e001b247ef7bfada6ff153facf3f42af5394ae40907688","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:314400","disease_name":"Cardiac valvular dysplasia, X-linked","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001939","is_excluded":false,"label":"Abnormality of metabolism/homeostasis","onset_id":null,"reference":"OMIM:314400","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"f973d0e5b8720a5b118270403e5c62e2006e9e2e01da8d172d3b63bf13b7e983","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:555877","disease_name":"FLNA-related X-linked myxomatous valvular dysplasia","evidence":"TAS","frequency_raw":"HP:0040284","hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"ORPHA:555877","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

X-linked cardiac valvular dysplasia is caused by mutations in the FLNA gene. This gene provides instructions for producing the protein filamin A, which helps build cells' extensive internal network of protein filaments called the cytoskeleton. The cytoskeleton gives structure to cells and allows them the flexibility to change shape. Filamin A primarily attaches (binds) to another protein called actin and helps it form the branching network of filaments that make up the cytoskeleton.

Filamin A also plays a role in the organization of the extracellular matrix, which is the lattice of proteins and other molecules outside the cell. Filamin A helps anchor cells to the extracellular matrix to ensure that cells are correctly positioned and signals can be exchanged between the cell and the extracellular matrix. Proper development of heart valves requires precise organization of cells within the extracellular matrix.

FLNA gene mutations that cause X-linked cardiac valvular dysplasia decrease the protein's ability to bind to actin and other proteins within the cell. As a result, the cell cytoskeleton is weakened and the extracellular matrix is disorganized. The cells' decreased ability to change shape impairs the valve's ability to open and close when the heart pumps blood. In addition, it appears that excess proteins are produced in the abnormal extracellular matrix, causing the valves to become thickened and further impairing their ability to open and close normally.

Filamin A is important in cells that make up many tissues in the body; it is unclear why the heart valves are the only tissue affected by the FLNA gene mutations that cause X-linked cardiac valvular dysplasia.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes X-linked cardiac valvular dysplasia?"},{"bodyHtml":"

The signs and symptoms of X-linked cardiac valvular dysplasia vary greatly among affected individuals. Some people have no health problems, while in others blood can leak through the thickened and partially closed valves. This valve leakage (regurgitation) typically affects the mitral valve, which connects the two left chambers of the heart, or the aortic valve, which regulates blood flow from the heart into the large artery called the aorta. Valve regurgitation forces the heart to pump harder to move blood through the heart. As a result, affected individuals may develop chest pains, shortness of breath, or lightheadedness.

In X-linked cardiac valvular dysplasia, the mitral or aortic valve can also be prolapsed, which means that the valve is weak or floppy. Valve prolapse further prevents the thickened valve from closing properly and can lead to valve regurgitation. Other rare complications of X-linked cardiac valvular dysplasia include inflammation of the inner lining of the heart (endocarditis), abnormal blood clots, or sudden death.

X-linked cardiac valvular dysplasia can be diagnosed anytime from birth (in some cases prenatally) to late adulthood but is typically diagnosed in early to mid-adulthood because valve malformation is often a slow process. This condition affects males more often and more severely than females.

Source: MedlinePlus Genetics

","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"x-linked-cardiac-valvular-dysplasia","sourceDocuments":[{"name":"X-linked cardiac valvular dysplasia","reviewed":"2016-08","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:54.273468+00:00","label":"Causes","pageSha256":"22802683e7afdd008df55b36b51e53cc8aacfb5fad3170a04c94fd654c3b1f00","sourceUrl":"https://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/x-linked-cardiac-valvular-dysplasia"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"X-linked cardiac valvular dysplasia"},"schemaVersion":1}