The GALC gene is a genetic variant that is associated with Krabbe disease, also known as globoid cell leukodystrophy. Krabbe disease is a rare degenerative disorder that affects the nervous system, particularly the myelin sheath, which is the protective covering…
The KCNQ1OT1 gene, also known as KCNQ1 overlapping transcript 1, is a gene that is located on chromosome 11. It is an antisense transcript that overlaps and regulates the KCNQ1 gene. This gene has been found to have significant effects…
Yao syndrome is a rare autoinflammatory condition that was first described in 2013. It is named after Dr. Zhou Yao, the geneticist who discovered the syndrome. The exact causes of Yao syndrome are still unknown, but it is believed to…
The POLR1C gene is one of the genes related to genetic disorders known as Treacher Collins syndrome, also known as mandibulofacial dysostosis. Treacher Collins syndrome is a rare and clinically variable disorder that affects the development of the bones and…
The ARX gene, short for Aristaless Related Homeobox, is a gene that is thought to play a part in the development of the brain. Mutations and changes within the ARX gene have been linked to a number of genetic disorders…
Cranioectodermal dysplasia is a rare genetic condition that affects the development and function of multiple tissues and organs in the body. It is also known as IFT-A cranioectodermal dysplasia, referring to the gene associated with the condition. The signs and…
Proximal 18q deletion syndrome is a rare genetic disorder caused by the deletion of a segment of the long arm of chromosome 18. This syndrome is associated with a variety of symptoms and can affect individuals in different ways. Scientific…
Meige disease, also known as Meige syndrome or idiopathic oromandibular dystonia, is a rare hereditary neurological disorder characterized by involuntary movements, particularly of the lower face and jaw. It is named after French neurologist Henri Meige, who first described the…
Shwachman-Diamond syndrome (SDS) is a rare genetic condition that affects different systems in the body. It is primarily characterized by bone marrow dysfunction, leading to a decrease in the production of blood cells, particularly white blood cells. The frequency of…
Corticotropin, Repository Injection Corticotropin repository injection is used to treat the following conditions: infantile spasms (seizures that usually begin during the first year of life and may be followed by developmental delays) in infants and children younger than 2 years…