PURA syndrome, also known as pura-related developmental and epileptic encephalopathy, is a rare genetic condition that is associated with developmental delay and epilepsy. This syndrome was first described in 2014 by the geneticist Matthew J. Bainbridge and his colleagues. Patients…
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…
Limb-girdle muscular dystrophy (LGMD) is a group of rare genetic disorders that affect the muscles responsible for moving the arms and legs. It is classified as a type of muscular dystrophy, which is a group of diseases that cause progressive…
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…
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…
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…
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.…
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…
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…
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…