{"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:0012714/OMIM:611705","label":"Congenital myopathy 5 with cardiomyopathy","mondoId":"MONDO:0012714","onsetQualifier":null,"recordKeys":["0c23be8dbba3b35b701b59c2b41542913a91d233aa243e10a1771e2d52651e00","0cc059c561e8614951ecf3a9d915271f25aa8af993f4f268ef1253681dd11441","0d8bc76f1e09c03a2caff25e700ef65f7ac759193d426be994f4afcd538767a1","104de8abe446bd6072f5ff0c050db49bd4b7ebed878240dff2f64f17e04e1def","136953a3d22d67fb7ee64afcdb3f9a6d80d824d2e86a26cbb3f9021a7bf3ff25","13a69a4c77e4221324552e9810540cce99c07addcfb54271d110858dd2a8801a","144ae96014687ca2c2097af350c9c02af4cc2bc35c3aa3cdb3f60b66d529cdd4","1d7e244b6c2e0f21b159e5eca0695566e5fe6a9939b9b6c75518ca30143f86a9","23159d7ca757c2492be5878e92252e0e6ea8c4153bdfea534221e05892abc6a7","29369a2a976752fb9d43b951afc318d6a9d35953fe98210e7337b021b2522320","31e3d5e415f9bc309c319e26766743403da48a39a3b6ff01fc3eca769f0ce8f3","3a63d897e83ea1f52987afe70f99efec377c7cc1782cb7437359bdfd1ea6e49b","5b56cbabfdcbd639b9b51b095b39b7d30a6fc09a392419b22f94b3c036191d11","67a9711305d6c38ba383ace440a8453447222d249f76d4d8eb53e24eff45b112","8c9aeb447b0d3ee4136a3c54480785c0fcf43afefebe7f60f413df92224e368e","9095bb5aa0c12baa55d68f9001fa703e3de139fdc0e957bd13640665803e22c1","9d2f29cabe25c380448689e71e6727a68a10f7f32bb8a7ac55960852c3604f61","c4a7fce0550eeaf6a26f812cb83bab569cbe9331c9a85777387c44caf0810d41","c624519725cd7a1dfbb8f47b7c7d5341a29839af201c99b07e8c99d02ba4b8d6","cfa7b9f66f7eca03d4e259aa7dc9fe18d63c3fdac2281562692e98d4d48a2b61","d3a004efa4d04d631e16e115db4889eeec4a264788d2035d489df318bf271455","d86e7997fea3bbddc56a1e8828251586072445946d8d2993cf1e04a31c262254","f83ad411607651339f84cbad8a68b64617b6289eefbf85cb1f64e5060b141c7c"],"recordQualifiers":{},"scopeLabel":"OMIM:611705","sourceIds":["OMIM:611705"],"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:0012714/OMIM:611705"],"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":23,"sourceGroups":{"omim":1,"orphanet":0,"published":22}},"features":[{"hpoId":"HP:0011675","label":"Arrhythmia","primary":false},{"hpoId":"HP:0001678","label":"Atrioventricular block","primary":false},{"hpoId":"HP:0011717","label":"Atrioventricular reentrant tachycardia","primary":false},{"hpoId":"HP:0008981","label":"Calf muscle hypertrophy","primary":false},{"hpoId":"HP:0003687","label":"Centrally nucleated skeletal muscle fibers","primary":false},{"hpoId":"HP:0001635","label":"Congestive heart failure","primary":false},{"hpoId":"HP:0003551","label":"Difficulty climbing stairs","primary":false},{"hpoId":"HP:0009046","label":"Difficulty running","primary":false},{"hpoId":"HP:0001644","label":"Dilated cardiomyopathy","primary":false},{"hpoId":"HP:0003236","label":"Elevated circulating creatine kinase activity","primary":false},{"hpoId":"HP:0003324","label":"Generalized muscle weakness","primary":false},{"hpoId":"HP:0100297","label":"Increased endomysial connective tissue","primary":false},{"hpoId":"HP:0003557","label":"Increased variability in muscle fiber diameter","primary":false},{"hpoId":"HP:0034392","label":"Joint contracture","primary":false},{"hpoId":"HP:0003789","label":"Minicore myopathy","primary":false},{"hpoId":"HP:0030059","label":"Mitochondrial depletion","primary":false},{"hpoId":"HP:0001270","label":"Motor delay","primary":false},{"hpoId":"HP:0003198","label":"Myopathy","primary":false},{"hpoId":"HP:0000508","label":"Ptosis","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0012666","label":"Severely reduced left ventricular ejection fraction","primary":false},{"hpoId":"HP:0001645","label":"Sudden cardiac death","primary":false},{"hpoId":"HP:0030319","label":"Weakness of facial muscles","primary":false}],"ledeHtml":"Early-onset myopathy with fatal cardiomyopathy (EOMFC) is an inherited muscle disease that affects the skeletal muscles, which are used for movement, and the heart (cardiac) muscle. This condition is characterized by skeletal muscle weakness that becomes apparent in early infancy. Affected individuals have delayed development of motor skills, such as sitting, standing, and walking. Beginning later in childhood, people with EOMFC may also develop joint deformities called contractures that restrict the movement of the neck and back. Scoliosis, which is an abnormal side-to-side curvature of the spine, also develops in late childhood.","mondoId":"MONDO:0012714","records":[{"frequencyKind":"range","key":"0c23be8dbba3b35b701b59c2b41542913a91d233aa243e10a1771e2d52651e00","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"HP:0040283","hpo_id":"HP:0003236","is_excluded":false,"label":"Elevated circulating creatine kinase activity","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0cc059c561e8614951ecf3a9d915271f25aa8af993f4f268ef1253681dd11441","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0003551","is_excluded":false,"label":"Difficulty climbing stairs","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"0d8bc76f1e09c03a2caff25e700ef65f7ac759193d426be994f4afcd538767a1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0003324","is_excluded":false,"label":"Generalized muscle weakness","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"104de8abe446bd6072f5ff0c050db49bd4b7ebed878240dff2f64f17e04e1def","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0008981","is_excluded":false,"label":"Calf muscle hypertrophy","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"136953a3d22d67fb7ee64afcdb3f9a6d80d824d2e86a26cbb3f9021a7bf3ff25","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"13a69a4c77e4221324552e9810540cce99c07addcfb54271d110858dd2a8801a","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0011717","is_excluded":false,"label":"Atrioventricular reentrant tachycardia","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"144ae96014687ca2c2097af350c9c02af4cc2bc35c3aa3cdb3f60b66d529cdd4","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0001270","is_excluded":false,"label":"Motor delay","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"1d7e244b6c2e0f21b159e5eca0695566e5fe6a9939b9b6c75518ca30143f86a9","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0003687","is_excluded":false,"label":"Centrally nucleated skeletal muscle fibers","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"23159d7ca757c2492be5878e92252e0e6ea8c4153bdfea534221e05892abc6a7","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0011675","is_excluded":false,"label":"Arrhythmia","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"29369a2a976752fb9d43b951afc318d6a9d35953fe98210e7337b021b2522320","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0001644","is_excluded":false,"label":"Dilated cardiomyopathy","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"31e3d5e415f9bc309c319e26766743403da48a39a3b6ff01fc3eca769f0ce8f3","raw":{"aspect":"P","body_system":"other","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"4/5","hpo_id":"HP:0001645","is_excluded":false,"label":"Sudden cardiac death","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"3a63d897e83ea1f52987afe70f99efec377c7cc1782cb7437359bdfd1ea6e49b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"3/5","hpo_id":"HP:0003789","is_excluded":false,"label":"Minicore myopathy","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"5b56cbabfdcbd639b9b51b095b39b7d30a6fc09a392419b22f94b3c036191d11","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"1/4","hpo_id":"HP:0001635","is_excluded":false,"label":"Congestive heart failure","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"67a9711305d6c38ba383ace440a8453447222d249f76d4d8eb53e24eff45b112","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0009046","is_excluded":false,"label":"Difficulty running","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"8c9aeb447b0d3ee4136a3c54480785c0fcf43afefebe7f60f413df92224e368e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0034392","is_excluded":false,"label":"Joint contracture","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9095bb5aa0c12baa55d68f9001fa703e3de139fdc0e957bd13640665803e22c1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0003198","is_excluded":false,"label":"Myopathy","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9d2f29cabe25c380448689e71e6727a68a10f7f32bb8a7ac55960852c3604f61","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0003557","is_excluded":false,"label":"Increased variability in muscle fiber diameter","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c4a7fce0550eeaf6a26f812cb83bab569cbe9331c9a85777387c44caf0810d41","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"2/5","hpo_id":"HP:0100297","is_excluded":false,"label":"Increased endomysial connective tissue","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"c624519725cd7a1dfbb8f47b7c7d5341a29839af201c99b07e8c99d02ba4b8d6","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"4/4","hpo_id":"HP:0012666","is_excluded":false,"label":"Severely reduced left ventricular ejection fraction","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"cfa7b9f66f7eca03d4e259aa7dc9fe18d63c3fdac2281562692e98d4d48a2b61","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0030319","is_excluded":false,"label":"Weakness of facial musculature","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"d3a004efa4d04d631e16e115db4889eeec4a264788d2035d489df318bf271455","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"1/5","hpo_id":"HP:0001678","is_excluded":false,"label":"Atrioventricular block","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"d86e7997fea3bbddc56a1e8828251586072445946d8d2993cf1e04a31c262254","raw":{"aspect":"P","body_system":"metabolic","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0030059","is_excluded":false,"label":"Mitochondrial depletion","onset_id":null,"reference":"OMIM:611705","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f83ad411607651339f84cbad8a68b64617b6289eefbf85cb1f64e5060b141c7c","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:611705","disease_name":"Congenital myopathy 5 with cardiomyopathy","evidence":"PCS","frequency_raw":"5/5","hpo_id":"HP:0000508","is_excluded":false,"label":"Ptosis","onset_id":null,"reference":"PMID:17444505","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy\">Early-onset myopathy with fatal cardiomyopathy</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>EOMFC is caused by variants (also known as mutations) in the TTN gene. This gene provides instructions for making a protein called titin, which plays an important role in skeletal and cardiac muscle function.</p><p>Within muscle cells, titin is an essential component of structures called sarcomeres and is critical for muscles to tense (contract) normally . Sarcomeres are the basic units of muscle contraction; they are made of proteins that generate the mechanical force needed for muscles to contract. Titin has several functions within sarcomeres. One of this protein&#x27;s most important jobs is to provide structure, flexibility, and stability to these cell structures. Titin also plays a role in chemical signaling and in assembling new sarcomeres.</p><p>The TTN gene variants involved in EOMFC lead to the production of an abnormally short version of titin. The abnormal protein disrupts the function of sarcomeres, which prevents skeletal and cardiac muscle from contracting normally. These muscle abnormalities underlie the features of EOMFC, including skeletal muscle weakness and dilated cardiomyopathy.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Early-onset myopathy with fatal cardiomyopathy?"},{"bodyHtml":"<p>A form of heart disease called dilated cardiomyopathy is another feature of EOMFC. Dilated cardiomyopathy enlarges and weakens the cardiac muscle, preventing the heart from pumping blood efficiently. Signs and symptoms of this condition can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. The heart abnormalities associated with EOMFC usually become apparent in childhood, after the skeletal muscle abnormalities. The heart disease worsens quickly, and it often causes heart failure and sudden death in adolescence or early adulthood.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"early-onset-myopathy-with-fatal-cardiomyopathy","sourceDocuments":[{"name":"Early-onset myopathy with fatal cardiomyopathy","reviewed":"2012-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:08.868509+00:00","label":"Causes","pageSha256":"bc5a6f6724a41087947796b2e5f67d8122d94e5efb49ace4a960563508b31cab","sourceUrl":"https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/early-onset-myopathy-with-fatal-cardiomyopathy"}],"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":"Early-onset myopathy with fatal cardiomyopathy"},"schemaVersion":1}