Genetic conditions are a wide range of disorders that are caused by abnormalities in an individual’s DNA. These conditions can affect various aspects of a person’s health, including their physical appearance, development, and overall well-being. In this article, we will…
The urinary system consists of two kidneys, two ureters, the bladder, and the urethra. It is responsible for filtering waste products from the blood and producing urine. Congenital anomalies of kidney and urinary tract (CAKUT) are abnormalities in the development…
The FGF10 gene is a gene that encodes fibroblast growth factor 10, a protein involved in the growth and development of various tissues and organs in the human body. It is located on chromosome 5q31.3 and is classified as a…
The FERMT1 gene, also known as Kindlin-1, is a gene that plays a crucial role in various biological processes. It has been extensively studied and documented in scientific literature, with numerous articles and references available on databases such as PubMed…
Multiple pterygium syndrome is a rare genetic condition that affects multiple parts of the body. It is characterized by the presence of webbing or folds of skin, primarily in the joints, as well as other physical abnormalities. This condition can…
Benign recurrent intrahepatic cholestasis, also known as BRIC, is a type of autosomal recessive cholestasis that affects the liver. This condition is rare and occurs in both children and adults. The frequency of BRIC is not known exactly, but it…
Short QT syndrome (SQTS) is a rare genetic cardiac disorder associated with an increased risk of sudden death. It is characterized by abnormally short QT intervals on an electrocardiogram (ECG), indicating a faster than usual electrical signaling in the heart.…
The SLC37A4 gene, also known as the glucose-6-phosphate transporter gene, is a genetic information which plays a crucial role in the transport and storage of glucose-6-phosphate. It is listed in the OMIM database, a catalog of genetic diseases and their…
Distal hereditary motor neuropathy type II (dHMN-II) is a rare neurological disorder characterized by the progressive weakening and wasting of muscles in the extremities. It is a hereditary condition, meaning it is passed down from generation to generation. dHMN-II is…
Kleefstra syndrome, also known as 9q34.3 microdeletion syndrome or 9q34.3 microduplication syndrome, is a rare genetic condition that affects multiple body systems and is characterized by intellectual disability, developmental delay, and distinctive facial features Caused by deletions or duplications of…