Expert

The KCNJ11 gene is responsible for encoding a variant of the inward rectifier potassium channel, Kir6.2. This gene is closely related to other genes listed in databases such as OMIM and PubMed. The KCNJ11 gene plays a crucial role in…

Hypochromic microcytic anemia with iron overload is a rare genetic condition associated with impaired absorption of iron in the duodenum. This condition leads to a buildup of iron in the body, resulting in iron overload. Iron overload can cause damage…

Lynch Syndrome, also known as Hereditary Nonpolyposis Colorectal Cancer (HNPCC), is a rare genetic condition that is characterized by a higher frequency of developing certain types of cancers. The condition is caused by mutations in several genes involved in DNA…

The RERE gene, also known as arginine-glutamic acid dipeptide (RE) repeats, encodes the arginine-glutamic acid dipeptide (RE) repeats protein. It is a large gene located on chromosome 1p36.21. The RERE gene is involved in the regulation of gene expression and…

Fryns syndrome is a rare genetic condition that is characterized by a variety of symptoms and features. It is a small defect that affects multiple systems of the body, including the heart, lungs, and brain. This condition is usually caused…

Pseudohypoaldosteronism type 2, also known as PHA2, is a rare genetic condition that affects the body’s ability to regulate potassium and sodium levels. It is characterized by a high potassium concentration in the blood, which can lead to hyperkalemic episodes.…

Maffucci syndrome is a rare genetic disorder characterized by the presence of multiple enchondromas (benign cartilage tumors) and hemangiomas (abnormal blood vessel growths). It is a non-hereditary condition, with no known family history of the syndrome. The exact cause of…

Gorlin-Chaudhry-Moss syndrome, also known as the craniofacial-skeletal-dermatologic dysplasia, is a rare genetic condition that affects the growth and development of various parts of the body. This syndrome was first described in 1960 by Gorlin et al., and since then, additional…

Epidermolytic hyperkeratosis is a genetic condition characterized by palmoplantar hyperkeratosis, a thickening of the skin on the palms of the hands and soles of the feet. This rare condition is associated with mutations in the KRT10 and KRT1 genes. The…

Hereditary cerebral amyloid angiopathy (CAA) is a rare genetic condition that affects the blood vessels in the brain. It is characterized by the accumulation of amyloid deposits in the walls of small and medium-sized blood vessels, leading to the development…