Primary hyperoxaluria is a rare genetic condition that leads to the overproduction of a substance called oxalate. This excess oxalate can cause damage to the kidneys and other organs in the body. There are three types of primary hyperoxaluria, named…
The TMEM127 gene is related to the development of paraganglioma and is listed in genetic databases and resources. Paragangliomas are tumors that commonly occur in the head and neck region. This gene is also associated with pheochromocytomas, which are tumors…
Cap myopathy is a rare condition associated with mutations in the TPM3 gene. It is inherited in an autosomal dominant manner. Patients with this disorder have unique characteristic features, such as a “cap” or “hood” over the muscle fibers. The…
The DHCR7 gene, also known as 3β-hydroxysteroid Δ7-reductase, is a gene responsible for the synthesis of an enzyme called 7-dehydrocholesterol reductase. This enzyme is crucial for the normal production of cholesterol and plays a key role in the synthesis of…
The CFTR (cystic fibrosis transmembrane conductance regulator) gene is also known by other names such as ABCC7 and ATP-binding cassette sub-family C member 7. It is primarily found in the epithelial cells of various tissues, including the sweat glands, airways,…
Congenital nephrotic syndrome (CNS) is a rare genetic condition that affects the kidneys. It is characterized by the excessive excretion of protein in the urine, leading to fluid retention and swelling in various parts of the body, particularly the face,…
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare genetic heart condition that affects the myocardium, the muscle of the right ventricle of the heart. Also known as arrhythmogenic right ventricular dysplasia, this condition is characterized by abnormal heart rhythms and…
Pyruvate kinase deficiency is a rare genetic condition known to cause chronic hemolytic anemia. It is caused by mutations in the PKLR gene, which is responsible for producing the pyruvate kinase enzyme. This enzyme plays a crucial role in the…
Myhre syndrome is a rare genetic condition that affects various parts of the body. It is named after D.ian J. Myhre, the physician who first described the condition in 1981. People with Myhre syndrome may experience a range of problems…
STXBP1 encephalopathy, also known as STXBP1-epilepsy, is a rare neurodevelopmental condition associated with mutations in the STXBP1 gene. The condition is characterized by early onset of epileptic seizures, intellectual disability, and neurodevelopmental delay. It was first described in 2008 and…