42-116 (Prodomain)

[MIM: 192600]: Cardiomyopathy, familial hypertrophic, 1 (CMH1)

A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 608358]: Congenital myopathy 7A, myosin storage, autosomal dominant (CMYP7A)

A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613426]: Cardiomyopathy, dilated, 1S (CMD1S)

A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 160500]: Myopathy, distal, 1 (MPD1)

A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 255160]: Congenital myopathy 7B, myosin storage, autosomal recessive (CMYP7B)

A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.

[MIM: 613426]: Left ventricular non-compaction 5 (LVNC5)

A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. . Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.

Without disease ID

• A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. . Note=The disease is caused by variants affecting the gene represented in this entry.
• A skeletal muscle disorder characterized by prominent axial and proximal weakening, spinal stiffness, severe scoliosis, with or without respiratory and cardiac involvement. The age at symptom onset can range from early childhood to late adulthood, and disease severity ranges from asymptomatic to severe muscular weakness and respiratory insufficiency. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.
• A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. . Note=The disease is caused by variants affecting the gene represented in this entry.
• A muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease. . Note=The disease is caused by variants affecting the gene represented in this entry.
• A skeletal muscle disorder characterized by the onset of scapuloperoneal muscle weakness in early childhood or young adulthood. Affected individuals have difficulty walking, steppage gait, and scapular winging due to shoulder girdle involvement. The severity and progression of the disorder is highly variable. Most patients develop respiratory insufficiency and restrictive lung disease. Some develop hypertrophic cardiomyopathy. Histopathological examination shows variable findings including subsarcolemmal hyaline bodies in type 1 fibers. . Note=The disease is caused by variants affecting the gene represented in this entry.
• A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC5 is an autosomal dominant condition. . Note=The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.