Symptoms and Testing information for LMNA Gene Heart-hand syndrome Slovenian type Genetic Test

Symptoms and Testing information for LMNA Gene Heart-hand syndrome Slovenian type Genetic Test

Heart-hand syndrome, Slovenian type, is a rare genetic disorder characterized by a unique combination of heart disease and deformities in the limbs, particularly the hands. This condition is caused by mutations in the LMNA gene, which plays a crucial role in maintaining the structural integrity of cells in the body. Recognizing the symptoms of this […]

Symptoms and Testing information for MT-ATP8 Gene Cardiomyopathy infantile hypertrophic MT-ATP8 related Genetic Test

Symptoms and Testing information for MT-ATP8 Gene Cardiomyopathy infantile hypertrophic MT-ATP8 related Genetic Test

Symptoms of MT-ATP8 Gene Cardiomyopathy Infantile Hypertrophic MT-ATP8 Related Genetic Test Cardiomyopathy is a condition that affects the muscle of the heart, hindering its ability to pump blood effectively to the rest of the body. Among its various types, the infantile hypertrophic cardiomyopathy related to the MT-ATP8 gene mutation is particularly severe due to its […]

Symptoms and Testing information for MYH7B Gene Cardiomyopathy left ventricular noncompaction MYH7B related Genetic Test

Symptoms and Testing information for MYH7B Gene Cardiomyopathy left ventricular noncompaction MYH7B related Genetic Test

Cardiomyopathy is a medical condition characterized by the deterioration of the heart muscle which can lead to heart failure and other cardiovascular complications. One specific type, known as left ventricular noncompaction (LVNC), has been linked to genetic factors, notably mutations in the MYH7B gene. Understanding the symptoms of MYH7B gene cardiomyopathy and the importance of […]

Symptoms and Testing information for PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test

Symptoms and Testing information for PHOX2B Gene Central hypoventilation syndrome with or without Hirschsprung disease Genetic Test

Central hypoventilation syndrome (CHS), also known as congenital central hypoventilation syndrome (CCHS), is a rare genetic disorder that affects the autonomic control of breathing. It’s characterized by the failure of the automatic control of breathing, especially during sleep, leading to inadequate ventilation and an increased level of carbon dioxide in the blood. The PHOX2B gene […]

Symptoms and Testing information for ASCL1 Gene Central hypoventilation syndrome congenital Genetic Test

Symptoms and Testing information for ASCL1 Gene Central hypoventilation syndrome congenital Genetic Test

Central Hypoventilation Syndrome (CHS), also known as Ondine’s Curse, is a rare genetic disorder affecting the automatic control of breathing. The hallmark of this condition is the failure to automatically control breathing during sleep, necessitating lifelong ventilatory support during sleep for affected individuals. The most common genetic cause of CHS is mutations in the PHOX2B […]

Symptoms and Testing information for TAB2 Gene Congenital heart defects multiple types Genetic Test

Symptoms and Testing information for TAB2 Gene Congenital heart defects multiple types Genetic Test

Understanding TAB2 Gene Congenital Heart Defects Congenital heart defects are among the most common birth defects, affecting millions of babies worldwide. These defects can range from mild conditions that may cause no symptoms to severe malformations that require immediate medical attention. Recent advances in genetics have identified the TAB2 gene as a critical factor in […]

Symptoms and Testing information for CR1 Gene CR1 deficiency Genetic Test

Symptoms and Testing information for CR1 Gene CR1 deficiency Genetic Test

Symptoms of CR1 Gene CR1 Deficiency The CR1 gene, known for its crucial role in the immune system’s regulation, has been extensively studied for its implications in various health conditions. Deficiency in the CR1 gene can lead to a range of symptoms and increase susceptibility to certain diseases. Recognizing these symptoms early can be pivotal […]

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