Pseudohypoaldosteronism Type 1 (PHA1) is a rare genetic disorder that affects the body’s ability to properly handle sodium and potassium. This condition can lead to a variety of symptoms and complications, significantly impacting an individual’s quality of life. One of the genes associated with this condition is the NR3C2 gene. Mutations in the NR3C2 gene […]
Nephrology Diseases
Symptoms and Testing information for SLC26A4 Gene Pendred Syndrome Genetic Test
Pendred Syndrome is a genetic disorder that affects the inner ear and thyroid gland, leading to hearing loss and a goiter. It is caused by mutations in the SLC26A4 gene, which plays a crucial role in the development and function of these organs. DNA Labs UAE offers a comprehensive genetic test for Pendred Syndrome, aimed […]
Symptoms and Testing information for SCNN1A Gene Pseudohypoaldosteronism type 1 autosomal recessive Genetic Test
Symptoms of SCNN1A Gene Pseudohypoaldosteronism Type 1 Autosomal Recessive Genetic Test Pseudohypoaldosteronism type 1 (PHA1) is a rare genetic disorder affecting electrolyte balance and blood pressure regulation. It is caused by mutations in the SCNN1A gene among others, leading to an autosomal recessive inheritance pattern. This condition is characterized by the body’s inability to properly […]
Symptoms and Testing information for PRKAR1A Gene Pigmented Nodular Adrenocortical Disease Type 1 Primary Genetic Test
Pigmented Nodular Adrenocortical Disease Type 1, also known as Primary Pigmented Nodular Adrenocortical Disease (PPNAD), is a rare form of adrenal gland disorder that is part of a larger condition known as Carney Complex. It is primarily caused by mutations in the PRKAR1A gene. Understanding the symptoms of this genetic condition is crucial for early […]
Symptoms and Testing information for LHX3 Gene Pituitary Hormone Deficiency Combined Type 3 Genetic Test
Certainly! Here’s the article structured as requested: Understanding the Symptoms of LHX3 Gene Pituitary Hormone Deficiency Combined Type 3 The LHX3 gene plays a pivotal role in the development and function of the pituitary gland, which is a small but crucial gland located at the base of the brain. This gland is responsible for producing […]
Symptoms and Testing information for LHX4 Gene Pituitary Hormone Deficiency Combined Type 4 Genetic Test
The LHX4 gene plays a critical role in the development and functioning of the pituitary gland, which is a vital part of the body’s endocrine system. Mutations in the LHX4 gene can lead to a rare disorder known as Combined Pituitary Hormone Deficiency (CPHD) Type 4. This condition is characterized by a spectrum of symptoms […]
Symptoms and Testing information for PKHD1 Gene Polycystic Kidney and Hepatic Disease Genetic Test
Polycystic Kidney and Hepatic Disease (PKHD1) is a rare, inherited disorder characterized by the development of kidney cysts and liver abnormalities. The PKHD1 gene mutation is the primary cause of this condition, affecting both kidneys’ normal structure and function, and in some cases, leading to significant liver disease. DNA Labs UAE offers a comprehensive genetic […]
Symptoms and Testing information for PKD1 Gene Polycystic Kidney Disease Type 1 Autosomal Dominant Genetic Test
Polycystic Kidney Disease Type 1 (PKD1) is a significant genetic condition that affects the kidneys, leading to the development of numerous cysts. These cysts are noncancerous round sacs containing water-like fluid, which can dramatically enlarge the kidneys while replacing much of their normal structure. This results in a reduction of kidney function and can lead […]
Symptoms and Testing information for PKHD1 Gene Polycystic Kidney Disease Type 1 Autosomal Recessive Genetic Test
Polycystic Kidney Disease Type 1 (PKD1) is a severe genetic disorder that affects the kidneys, leading to the development of numerous cysts in these organs. This condition is caused by mutations in the PKHD1 gene and is inherited in an autosomal recessive manner. The disease can lead to various symptoms and complications, significantly impacting an […]
Symptoms and Testing information for PKD2 Gene Polycystic Kidney Disease Type 2 Autosomal Dominant Genetic Test
Polycystic Kidney Disease (PKD) is a genetic disorder characterized by the growth of numerous cysts in the kidneys. The PKD2 gene, specifically, is associated with Type 2 Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is less aggressive but still significantly impacts the kidneys and other organs over time. Recognizing the symptoms of this condition early […]