{"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:0010281/OMIM:300257","label":"Danon disease","mondoId":"MONDO:0010281","onsetQualifier":null,"recordKeys":["06d072ca7bc139af1d808b9bba1e19bcb4aa0a82e0d67dd80a356da187c68713","077585529a585f1e40499d7ac13401f9851632203339d0f1a16808f201635308","0c48e8f222f8f431eddbfa6f8975cd5369b8f5d3a6ea6195327fd6ff1eb316a4","1028bd04e601adcb959cbdd30a7dc93e4e532777efb55b2c75fdcb18030e83a1","18757ab1d9b996a92d84337607ec19281c82c76c88c444f250bfc4d12bb81f62","1904dc6bdf77b4d4ed29c1a5356334e0405ddb160f109ee0245e6385ed93324d","20b33de1b865705dcebc643b2f71b7d8d7552fa6e91c5838eb18f4d7e5c1152a","24f179887843fedde7c7244c2acaa9672c8f14de1482fa2bfd5ff51169340cc6","2853b04ca4298144d2fc9f7f94567199c380f6dc12e6f161be06f6bd6e117f0c","29711b89152ae91d794f6d2e7642afd1e0ade7a0e4f50ca544afddb126d4baac","3234e524ba600bb3278a9309457a3bbb9bbeafc390824fbfca3e3e0e48956b41","34c12ee12110bf799cc81bbea1c1f86820017fde1ebf41acac5fa78b8799b285","3bf1ce2f7aaa606a3e28e62f12061992ed971027b3d1aac6bd38e95871c0e3b8","3e5f8a407018b4c5f5cb5de9f0a41cec230b423664c874d661d04a0472995e12","485bf930244afc52d6fce2fa2592b047d7d02c13f176f588db1b084148a915b2","5252a0f560b688e83e3998de10ebbf8b49f7b14b7d7dee722f74059c793ec345","57c56437301fe518e778e577c2beb465c1e8d7442913610706a525a2a5292865","64690e905126bd22a5dd4fc7cea5faafa07bbce9bbdb0eb77cf4b6a7be669ea5","739aec379841555ef526603893c12096c315803af2cf6cb8f3391a2dd9789920","7bb62b94cfefd3b71c25788562d56194f928e9298e628907da44e0a0ac226e7a","902fb66839902b21506c9314aed6307bc39159116d1db99e5ce2c937a5f270cf","92668032304054cd33d06731c570c6718cba69ef9f2fda645a4f30ce165c8faf","9db9a48b72fa1826c371cd8dcfdaf47568a6e56a0e0109a3eece332e157590e5","a016d0d48245e510077dd6b5de893082165d645e80ae44feb7923b2e8583b2ab","acc9ab48380c550f05c860442b4a5da626d897b15cdce60141fa990a39ff0cc6","c7856a5e4a469193beb39c9202cff38b45e9ac4d1f7f535df7e17a3637045106","c9a782734363c734da45ddbb765343d24ff3279d6a74ef32af94c626472de038","db496aa224074b785a023ca0d3dc17c34c388b77d111fb6df8cd3920bf8c7669","defd90e8a2f0de95594568f1719e887bdf4415ec3cd5aa69e489b411b3a90199","e2ded5ffd10c2a4d7b1435d23e76f760e0f21ee72cbd61014dac77ba141f63f6","f4ddb6a4ee9c0c9963cb7f79ceb2045ed3ce5a884503a62614d72cd50fbbda8c"],"recordQualifiers":{},"scopeLabel":"OMIM:300257","sourceIds":["OMIM:300257"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0010281/ORPHA:34587","label":"Danon disease","mondoId":"MONDO:0010281","onsetQualifier":null,"recordKeys":["099a02f04196683baf0eaae47392ab9674fd4ec0aab3a3a9883e70ec3916a045","279f73c9cd9ed7eaed84c0458e5348020eb80756d61b26aeb64ea693763b88f4","2be5c099ffe3bfbb6633551fd0c702825ed0741c2a7d92612b70876ee29a23cb","4445e3785f383d6639621eb5864ac81571166814b34c983d8493542b4b8f3a22","7fb671709f01bfb42e921e589babb28d55d272916c3db72f1f6a72ee866f5605","b5496a3082724453d3e8d86cd4ce96def39c35a89316fe803811abba98b97ff5"],"recordQualifiers":{},"scopeLabel":"ORPHA:34587","sourceIds":["ORPHA:34587"],"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:0010281/OMIM:300257","MONDO:0010281/ORPHA:34587"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>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.</p>"},"coverage":{"countRecords":21,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":37,"sourceGroups":{"omim":11,"orphanet":6,"published":20}},"features":[{"hpoId":"HP:0001692","label":"Atrial arrhythmia","primary":false},{"hpoId":"HP:0001678","label":"Atrioventricular block","primary":false},{"hpoId":"HP:0001640","label":"Cardiomegaly","primary":false},{"hpoId":"HP:0006543","label":"Cardiorespiratory arrest","primary":false},{"hpoId":"HP:0100543","label":"Cognitive impairment","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0001644","label":"Dilated cardiomyopathy","primary":false},{"hpoId":"HP:0002460","label":"Distal muscle weakness","primary":false},{"hpoId":"HP:0003236","label":"Elevated circulating creatine kinase activity","primary":false},{"hpoId":"HP:0003458","label":"EMG: myopathic abnormalities","primary":false},{"hpoId":"HP:0003546","label":"Exercise intolerance","primary":false},{"hpoId":"HP:0003710","label":"Exercise-induced muscle cramps","primary":false},{"hpoId":"HP:0001288","label":"Gait disturbance","primary":false},{"hpoId":"HP:0003700","label":"Generalized amyotrophy","primary":false},{"hpoId":"HP:0001263","label":"Global developmental delay","primary":false},{"hpoId":"HP:0001639","label":"Hypertrophic cardiomyopathy","primary":false},{"hpoId":"HP:0002375","label":"Hypokinesia","primary":false},{"hpoId":"HP:0025075","label":"Increased QRS voltage","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0003690","label":"Limb muscle weakness","primary":false},{"hpoId":"HP:0007210","label":"Lower limb amyotrophy","primary":false},{"hpoId":"HP:0010547","label":"Muscle flaccidity","primary":false},{"hpoId":"HP:0001324","label":"Muscle weakness","primary":false},{"hpoId":"HP:0001685","label":"Myocardial fibrosis","primary":false},{"hpoId":"HP:0001700","label":"Myocardial necrosis","primary":false},{"hpoId":"HP:0001761","label":"Pes cavus","primary":false},{"hpoId":"HP:0003701","label":"Proximal muscle weakness","primary":false},{"hpoId":"HP:0011706","label":"Second degree atrioventricular block","primary":false},{"hpoId":"HP:0012666","label":"Severely reduced left ventricular ejection fraction","primary":false},{"hpoId":"HP:0025717","label":"Skeletal muscle autophagosome accumulation","primary":false},{"hpoId":"HP:0001279","label":"Syncope","primary":false},{"hpoId":"HP:0004756","label":"Ventricular tachycardia","primary":false},{"hpoId":"HP:0000505","label":"Visual impairment","primary":false},{"hpoId":"HP:0001716","label":"Wolff-Parkinson-White syndrome","primary":false}],"ledeHtml":"Danon disease is a condition characterized by weakening of the heart muscle (cardiomyopathy); weakening of the muscles used for movement, called skeletal muscles (myopathy); and intellectual disabilities. People with Danon disease may develop the condition at different ages. Signs and symptoms of this condition appear about 15 years earlier in males than in females. Males first experience health problems in childhood or adolescence; without treatment, these individuals typically live into early adulthood. Females start experiencing health problems in early adulthood and typically survive into mid-adulthood without treatment.","mondoId":"MONDO:0010281","records":[{"frequencyKind":"count","key":"06d072ca7bc139af1d808b9bba1e19bcb4aa0a82e0d67dd80a356da187c68713","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"0/2","hpo_id":"HP:0100543","is_excluded":true,"label":"Cognitive impairment","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"077585529a585f1e40499d7ac13401f9851632203339d0f1a16808f201635308","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0011706","is_excluded":false,"label":"Second degree atrioventricular block","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"099a02f04196683baf0eaae47392ab9674fd4ec0aab3a3a9883e70ec3916a045","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:34587","disease_name":"Danon disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001639","is_excluded":false,"label":"Hypertrophic cardiomyopathy","onset_id":null,"reference":"ORPHA:34587","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0c48e8f222f8f431eddbfa6f8975cd5369b8f5d3a6ea6195327fd6ff1eb316a4","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001685","is_excluded":false,"label":"Myocardial fibrosis","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"1028bd04e601adcb959cbdd30a7dc93e4e532777efb55b2c75fdcb18030e83a1","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001700","is_excluded":false,"label":"Myocardial necrosis","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"18757ab1d9b996a92d84337607ec19281c82c76c88c444f250bfc4d12bb81f62","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0025075","is_excluded":false,"label":"Increased QRS voltage","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1904dc6bdf77b4d4ed29c1a5356334e0405ddb160f109ee0245e6385ed93324d","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"8/10","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:10972294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"20b33de1b865705dcebc643b2f71b7d8d7552fa6e91c5838eb18f4d7e5c1152a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003701","is_excluded":false,"label":"Proximal muscle weakness","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"24f179887843fedde7c7244c2acaa9672c8f14de1482fa2bfd5ff51169340cc6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0003690","is_excluded":false,"label":"Limb muscle weakness","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"279f73c9cd9ed7eaed84c0458e5348020eb80756d61b26aeb64ea693763b88f4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:34587","disease_name":"Danon disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:34587","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"2853b04ca4298144d2fc9f7f94567199c380f6dc12e6f161be06f6bd6e117f0c","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001279","is_excluded":false,"label":"Syncope","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"29711b89152ae91d794f6d2e7642afd1e0ade7a0e4f50ca544afddb126d4baac","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0012666","is_excluded":false,"label":"Severely reduced left ventricular ejection fraction","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"2be5c099ffe3bfbb6633551fd0c702825ed0741c2a7d92612b70876ee29a23cb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:34587","disease_name":"Danon disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001288","is_excluded":false,"label":"Gait disturbance","onset_id":null,"reference":"ORPHA:34587","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"3234e524ba600bb3278a9309457a3bbb9bbeafc390824fbfca3e3e0e48956b41","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003710","is_excluded":false,"label":"Exercise-induced muscle cramps","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"34c12ee12110bf799cc81bbea1c1f86820017fde1ebf41acac5fa78b8799b285","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001640","is_excluded":false,"label":"Cardiomegaly","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3bf1ce2f7aaa606a3e28e62f12061992ed971027b3d1aac6bd38e95871c0e3b8","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":"10/10","hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"3e5f8a407018b4c5f5cb5de9f0a41cec230b423664c874d661d04a0472995e12","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0004756","is_excluded":false,"label":"Ventricular tachycardia","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4445e3785f383d6639621eb5864ac81571166814b34c983d8493542b4b8f3a22","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:34587","disease_name":"Danon disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"ORPHA:34587","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"485bf930244afc52d6fce2fa2592b047d7d02c13f176f588db1b084148a915b2","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001263","is_excluded":false,"label":"Global developmental delay","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"5252a0f560b688e83e3998de10ebbf8b49f7b14b7d7dee722f74059c793ec345","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0000505","is_excluded":false,"label":"Visual impairment","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"57c56437301fe518e778e577c2beb465c1e8d7442913610706a525a2a5292865","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001639","is_excluded":false,"label":"Hypertrophic cardiomyopathy","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"64690e905126bd22a5dd4fc7cea5faafa07bbce9bbdb0eb77cf4b6a7be669ea5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001678","is_excluded":false,"label":"Atrioventricular block","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"739aec379841555ef526603893c12096c315803af2cf6cb8f3391a2dd9789920","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0003236","is_excluded":false,"label":"Elevated circulating creatine kinase activity","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"7bb62b94cfefd3b71c25788562d56194f928e9298e628907da44e0a0ac226e7a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003700","is_excluded":false,"label":"Generalized amyotrophy","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"7fb671709f01bfb42e921e589babb28d55d272916c3db72f1f6a72ee866f5605","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:34587","disease_name":"Danon disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0006543","is_excluded":false,"label":"Cardiorespiratory arrest","onset_id":null,"reference":"ORPHA:34587","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"902fb66839902b21506c9314aed6307bc39159116d1db99e5ce2c937a5f270cf","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003458","is_excluded":false,"label":"EMG: myopathic abnormalities","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"92668032304054cd33d06731c570c6718cba69ef9f2fda645a4f30ce165c8faf","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003546","is_excluded":false,"label":"Exercise intolerance","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"9db9a48b72fa1826c371cd8dcfdaf47568a6e56a0e0109a3eece332e157590e5","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001692","is_excluded":false,"label":"Atrial arrhythmia","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a016d0d48245e510077dd6b5de893082165d645e80ae44feb7923b2e8583b2ab","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0025717","is_excluded":false,"label":"Skeletal muscle autophagosome accumulation","onset_id":null,"reference":"PMID:10972294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"acc9ab48380c550f05c860442b4a5da626d897b15cdce60141fa990a39ff0cc6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002375","is_excluded":false,"label":"Hypokinesia","onset_id":null,"reference":"OMIM:300257","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"b5496a3082724453d3e8d86cd4ce96def39c35a89316fe803811abba98b97ff5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:34587","disease_name":"Danon disease","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0010547","is_excluded":false,"label":"Muscle flaccidity","onset_id":null,"reference":"ORPHA:34587","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"c7856a5e4a469193beb39c9202cff38b45e9ac4d1f7f535df7e17a3637045106","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0002460","is_excluded":false,"label":"Distal muscle weakness","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c9a782734363c734da45ddbb765343d24ff3279d6a74ef32af94c626472de038","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001716","is_excluded":false,"label":"Wolff-Parkinson-White syndrome","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"db496aa224074b785a023ca0d3dc17c34c388b77d111fb6df8cd3920bf8c7669","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0007210","is_excluded":false,"label":"Lower limb amyotrophy","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"defd90e8a2f0de95594568f1719e887bdf4415ec3cd5aa69e489b411b3a90199","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"1/2","hpo_id":"HP:0001761","is_excluded":false,"label":"Pes cavus","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"e2ded5ffd10c2a4d7b1435d23e76f760e0f21ee72cbd61014dac77ba141f63f6","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"10/10","hpo_id":"HP:0001324","is_excluded":false,"label":"Muscle weakness","onset_id":null,"reference":"PMID:10972294","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"f4ddb6a4ee9c0c9963cb7f79ceb2045ed3ce5a884503a62614d72cd50fbbda8c","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:300257","disease_name":"Danon disease","evidence":"PCS","frequency_raw":"2/2","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"PMID:15253947","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/danon-disease\">Danon disease</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Danon disease is caused by variants (also called mutations) in the LAMP2 gene. The LAMP2 gene provides instructions for making a protein called lysosome-associated membrane glycoprotein 2 (LAMP-2). As its name suggests, this protein is found in the membrane of cellular structures called lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of materials. The LAMP-2 protein helps transport cellular materials or digestive enzymes into the lysosome. Three slightly different versions (isoforms) of the LAMP-2 protein are produced. These isoforms have slightly different functions and are found in different tissues throughout the body. The main isoform is needed to transport materials into lysosomes using a formation of cellular structures called autophagic vacuoles (or autophagosomes). Cellular material is first enclosed in an autophagic vacuole inside the cell. The vacuole then attaches (fuses) to a lysosome to transfer the cellular material into the lysosome. The LAMP-2 protein is involved in the fusion between autophagic vacuoles and lysosomes.</p><p>Variants in the LAMP2 gene lead to the production of very little or no functional LAMP-2 protein. Studies have shown that fusion between autophagic vacuoles and lysosomes occurs more slowly in cells without the LAMP-2 protein, which causes autophagic vacuoles to accumulate in these cells. Accumulation of these vacuoles in the heart likely causes heart muscle cells to expand and eventually die, leading to the enlarged and weakened heart common in people with Danon disease. Similarly, in skeletal muscle cells, this accumulation likely leads to the breakdown of the muscle cells, causing muscle weakness. The cause of the other signs and symptoms of Danon disease is unclear, but it is likely related to the accumulation of vacuoles in other affected tissues.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/danon-disease/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Danon disease?"},{"bodyHtml":"<p>Cardiomyopathy is the most common symptom of Danon disease, and it occurs in all males and in most females. Beginning in childhood, most affected males develop hypertrophic cardiomyopathy, which is a thickening of the heart muscle that may make it harder for the heart to pump blood. Others with Danon disease may have dilated cardiomyopathy, which is a condition that weakens and enlarges the heart, preventing it from pumping blood efficiently. About half of females with Danon disease have hypertrophic cardiomyopathy, and the other half have dilated cardiomyopathy. Rarely, individuals with hypertrophic cardiomyopathy later develop dilated cardiomyopathy. Either type of cardiomyopathy can lead to heart failure and premature death.</p><p>Individuals with Danon disease can have other heart-related signs and symptoms, including a sensation of fluttering or pounding in the chest (palpitations), an abnormal heartbeat (arrhythmia), or chest pain. Many affected individuals have abnormalities of the electrical signals that control the heartbeat (conduction abnormalities). Affected individuals often have a specific conduction abnormality known as cardiac preexcitation. The type of cardiac preexcitation most often seen in people with Danon disease is called the Wolff-Parkinson-White syndrome pattern.</p><p>Skeletal myopathy occurs in most males with Danon disease and in some affected females. The weakness typically occurs in the muscles of the shoulders, neck, and upper thighs. Many males with Danon disease have elevated levels of an enzyme called creatine kinase in their blood, which often indicates muscle disease.</p><p>Most males with Danon disease have mild intellectual disabilities, but this is much less common in affected females.</p><p>There can be other signs and symptoms of the condition in addition to the three characteristic features. Several affected individuals have had gastrointestinal disease, breathing problems, or visual abnormalities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/danon-disease\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"danon-disease","sourceDocuments":[{"name":"Danon disease","reviewed":"2024-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:20:51.425057+00:00","label":"Causes","pageSha256":"b1cc9e9656a3fcc9f0e8ed83d91f99077cd73d7201dbc676d6d0cb8f663a7a5c","sourceUrl":"https://medlineplus.gov/genetics/condition/danon-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/danon-disease"}],"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":"Danon disease"},"schemaVersion":1}