McLeod neuroacanthocytosis syndrome is a rare neurogenic condition that affects the muscles and brain. It is named after the McLeod blood group antigen, which is lacking in patients with this condition. The syndrome is inherited in an X-linked manner, meaning…
Liebenberg syndrome, also known as brachydactyly-LHS (LIEBENBERG TYPE), is a rare genetic condition that affects the bones and soft tissues of the limbs. It was first described by Liebenberg in 1973 and has since been associated with mutations in the…
Cherubism is a rare genetic condition characterized by abnormal growths in the lower jaw and cheekbones. It primarily affects children, causing their facial features to appear cherubic, hence the name. Cherubism is a hereditary condition, with most cases caused by…
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…
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 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…
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…
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…
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…
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…