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leukemia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in several genes have been found to cause familial restrictive cardiomyopathy. Mutations in the TNNI3 gene are one of the major causes of this condition. The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart. Cardiac troponin I is one of three proteins that make up the troponin protein complex, which helps regulate tensing (contraction) and relaxation of the heart muscle.</p><p>TNNI3 gene mutations associated with familial restrictive cardiomyopathy result in the production of a defective cardiac troponin I protein. The altered protein disrupts the function of the troponin protein complex and does not allow the heart muscle to fully relax. As a result, not enough blood enters the ventricles, leading to a buildup in the atria and lungs. The abnormal heart relaxation and blood flow is responsible for many of the signs and symptoms of familial restrictive cardiomyopathy.</p><p>Mutations in other genes associated with familial restrictive cardiomyopathy each account for a small percentage of cases of this condition. Some people with familial restrictive cardiomyopathy do not have an identified mutation in any of the known associated genes. The cause of the disorder in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Familial restrictive cardiomyopathy?"},{"bodyHtml":"<p>In people with familial restrictive cardiomyopathy, the heart muscle is stiff and cannot fully relax after each contraction. Impaired muscle relaxation causes blood to back up in the atria and lungs, which reduces the amount of blood in the ventricles.</p><p>Familial restrictive cardiomyopathy can appear anytime from childhood to adulthood. The first signs and symptoms of this condition in children are failure to gain weight and grow at the expected rate (failure to thrive), extreme tiredness (fatigue), and fainting. Children who are severely affected may also have abnormal swelling or puffiness (edema), increased blood pressure, an enlarged liver, an abnormal buildup of fluid in the abdominal cavity (ascites), and lung congestion. Some children with familial restrictive cardiomyopathy do not have any obvious signs or symptoms, but they may die suddenly due to heart failure. Without treatment, the majority of affected children survive only a few years after they are diagnosed.</p><p>Adults with familial restrictive cardiomyopathy typically first develop shortness of breath, fatigue, and a reduced ability to exercise. Some individuals have an irregular heart beat (arrhythmia) and may also experience a sensation of fluttering or pounding in the chest (palpitations) and dizziness. Abnormal blood clots are commonly seen in adults with this condition. Without treatment, approximately one-third of adults with familial restrictive cardiomyopathy do not survive more than five years after diagnosis.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy\">MedlinePlus Genetics</a></p><details class=\"deep-dive\"><summary>Pompe disease</summary><p>Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body&#x27;s cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.</p><p>Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.</p><p>The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.</p><p>The non-classic form of infantile-onset Pompe disease usually appears by age 1. It is characterized by delayed motor skills (such as rolling over and sitting) and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.</p><p>The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.</p><h3>Causes</h3><p>Mutations in the GAA gene cause Pompe disease. The GAA gene provides instructions for producing an enzyme called acid alpha-glucosidase (also known as acid maltase). This enzyme is active in lysosomes, which are structures that serve as recycling centers within cells. The enzyme normally breaks down glycogen into a simpler sugar called glucose, which is the main energy source for most cells.</p><p>Mutations in the GAA gene prevent acid alpha-glucosidase from breaking down glycogen effectively, which allows this sugar to build up to toxic levels in lysosomes. This buildup damages organs and tissues throughout the body, particularly the muscles, leading to the progressive signs and symptoms of Pompe disease.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pompe-disease/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pompe-disease\">MedlinePlus: Pompe disease</a></p></details><details class=\"deep-dive\"><summary>PDGFRA-associated chronic eosinophilic leukemia</summary><p>PDGFRA-associated chronic eosinophilic leukemia is a form of blood cell cancer characterized by an elevated number of cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRA-associated chronic eosinophilic leukemia.</p><p>Another characteristic feature of PDGFRA-associated chronic eosinophilic leukemia is organ damage caused by the excess eosinophils. Eosinophils release substances to aid in the immune response, but the release of excessive amounts of these substances causes damage to one or more organs, most commonly the heart, skin, lungs, or nervous system. Eosinophil-associated organ damage can lead to a heart condition known as eosinophilic endomyocardial disease, skin rashes, coughing, difficulty breathing, swelling (edema) in the lower limbs, confusion, changes in behavior, or impaired movement or sensations. People with PDGFRA-associated chronic eosinophilic leukemia can also have an enlarged spleen (splenomegaly) and elevated levels of certain chemicals called vitamin B12 and tryptase in the blood.</p><p>Some people with PDGFRA-associated chronic eosinophilic leukemia have an increased number of other types of white blood cells, such as neutrophils or mast cells. Occasionally, people with PDGFRA-associated chronic eosinophilic leukemia develop other blood cell cancers, such as acute myeloid leukemia or B-cell or T-cell acute lymphoblastic leukemia or lymphoblastic lymphoma.</p><p>PDGFRA-associated chronic eosinophilic leukemia is often grouped with a related condition called hypereosinophilic syndrome. These two conditions have very similar signs and symptoms; however, the cause of hypereosinophilic syndrome is unknown.</p><h3>Causes</h3><p>PDGFRA-associated chronic eosinophilic leukemia is caused by mutations in the PDGFRA gene. This condition usually occurs as a result of genetic rearrangements that fuse part of the PDGFRA gene with part of another gene. Rarely, changes in single DNA building blocks (point mutations) in the PDGFRA gene are found in people with this condition. Genetic rearrangements and point mutations affecting the PDGFRA gene are somatic mutations, which are mutations acquired during a person&#x27;s lifetime that are present only in certain cells. The somatic mutation occurs initially in a single cell, which continues to grow and divide, producing a group of cells with the same mutation (a clonal population).</p><p>The most common genetic abnormality in PDGFRA-associated chronic eosinophilic leukemia results from a deletion of genetic material from chromosome 4, which brings together part of the PDGFRA gene and part of the FIP1L1 gene, creating the FIP1L1-PDGFRA fusion gene.</p><p>The FIP1L1 gene provides instructions for a protein that plays a role in forming the genetic blueprints for making proteins (messenger RNA or mRNA).</p><p>The PDGFRA gene provides instructions for making a receptor protein that is found in the cell membrane of certain cell types. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. When the ligand attaches (binds), the PDGFRA receptor protein is turned on (activated), which leads to activation of a series of proteins in multiple signaling pathways. These signaling pathways control many important cellular processes, such as cell growth and division (proliferation) and cell survival.</p><p>The FIP1L1-PDGFRA fusion gene (as well as other PDGFRA fusion genes) provides instructions for making a fusion protein that has the function of the normal PDGFRA protein. However, the fusion protein does not require ligand binding to be activated. Similarly, point mutations in the PDGFRA gene can result in a PDGFRA protein that is activated without ligand binding. As a result, the signaling pathways are constantly turned on (constitutively activated), which increases the proliferation and survival of cells. When the FIP1L1-PDGFRA fusion gene mutation or point mutations in the PDGFRA gene occur in blood cell precursors, the growth of eosinophils (and occasionally other blood cells, such as neutrophils and mast cells) is poorly controlled, leading to PDGFRA-associated chronic eosinophilic leukemia. It is unclear why eosinophils are preferentially affected by this genetic change.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia/#causes\">MedlinePlus Genetics: Causes</a></p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia\">MedlinePlus: PDGFRA-associated chronic eosinophilic leukemia</a></p></details>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"familial-restrictive-cardiomyopathy","sourceDocuments":[{"name":"Familial restrictive cardiomyopathy","reviewed":"2011-01","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:28.677690+00:00","label":"Causes","pageSha256":"90d9731807a5a8f3e3e46ee3ec17ffb38f4f23cbc6fc9dbdd2acf5d763ecd305","sourceUrl":"https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/familial-restrictive-cardiomyopathy"},{"name":"Pompe disease","reviewed":"2010-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:18.371426+00:00","label":"Causes","pageSha256":"ee556d5de3eaaa8fc86013460e21a5f688ee6e6fb611f4cacce07da9df629ba9","sourceUrl":"https://medlineplus.gov/genetics/condition/pompe-disease/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pompe-disease"},{"name":"PDGFRA-associated chronic eosinophilic leukemia","reviewed":"2012-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:24:05.971630+00:00","label":"Causes","pageSha256":"336f7a452be843664fae14dc477a300c30fb90f59107dfe5c57d194406025ca3","sourceUrl":"https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/pdgfra-associated-chronic-eosinophilic-leukemia"}],"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":"Familial restrictive cardiomyopathy"},"schemaVersion":1}