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 […]
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 […]
Polycystic liver disease (PLD) is a rare condition that causes numerous cysts to grow in the liver. These cysts can vary in size and may lead to significant enlargement of the liver over time. Although PLD can occur on its own, it is often found in association with polycystic kidney disease (PKD). One of the […]
Polycystic Ovary Syndrome (PCOS) is a common condition affecting women of reproductive age, characterized by hormonal imbalance and metabolism problems that can lead to irregular menstrual periods, infertility, and other health issues. The SULT2A1 gene has been identified as one of the genetic markers associated with PCOS, particularly Type 1. Understanding the symptoms of SULT2A1 […]
Polycystic Ovary Syndrome (PCOS) is a common condition that affects how a woman’s ovaries work. It has various manifestations, ranging from irregular menstrual cycles to difficulties in conceiving, and is often accompanied by an array of metabolic issues. Among the genetic factors contributing to PCOS, the SULT2B1 gene has garnered attention for its significant role. […]
Symptoms of LHCGR Gene Precocious Puberty in Males Precocious puberty refers to the unusually early onset of puberty. Typically, puberty begins between the ages of 8 and 13 in girls and between 9 and 14 in boys. However, in cases of precocious puberty, these developmental changes start much earlier, sometimes as young as 7 in […]
Symptoms of FMR1 Gene Premature Ovarian Failure Type 1 Genetic Test Premature Ovarian Failure (POF), also known as Primary Ovarian Insufficiency (POI), is a significant health concern affecting women’s reproductive health globally. It is characterized by the loss of normal ovarian function before the age of 40. Among the various factors contributing to this condition, […]
Pancreatitis is a condition characterized by the inflammation of the pancreas, which can either be acute or chronic. While the causes of pancreatitis can vary, ranging from alcohol consumption to gallstones, a significant advancement in medical science has been the discovery of genetic predispositions to this condition. Among these genetic markers, the PRSS2 gene plays […]
Primary aldosteronism, also known as Conn’s syndrome, is a condition characterized by the overproduction of aldosterone, a hormone responsible for regulating sodium and potassium levels in the blood. This condition can lead to a variety of health issues, including high blood pressure, muscle weakness, and severe electrolyte imbalances. Recent advancements in genetics have identified mutations […]
Panhypopituitarism is a rare condition characterized by the decreased secretion of most or all of the hormones produced by the pituitary gland. When this condition is linked to genetic abnormalities, it can be passed down through families. One such genetic cause is mutations in the SOX3 gene, which have been associated with X-linked panhypopituitarism. This […]
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