Cushing’s disease is a rare condition caused by the overproduction of cortisol, a hormone that regulates various functions in the body. It is classified as a pituitary-dependant syndrome, as the cause of the disease is located in the pituitary gland,…
The Adams-Oliver syndrome (AOS) is a rare genetic condition caused by mutations in certain genes. It is characterized by a combination of abnormalities, including scalp defects and limb abnormalities. The condition was first described by doctors Adams and Oliver in…
McCune-Albright Syndrome is a rare genetic disorder that affects multiple areas of the body. It is also known by other names, such as McCune-Albright syndrome with polyostotic fibrous dysplasia, endocrine dysfunction, and cafè-au-lait macules, or simply McCune-Albright. The condition was…
The GJB1 gene, also known as Connexin-32, is a gene located on the X chromosome. It is responsible for encoding a protein that forms gap junctions, specialized channels in the membrane of nerves. These channels allow for the transmission of…
Sepiapterin reductase deficiency is a rare genetic condition that affects the production of a chemical called sepiapterin. This deficiency can cause a variety of symptoms that typically affect the brain, such as movement disorders, mood swings, and abnormal serotonin and…
The LARGE1 gene is a gene that has been associated with various syndromes and diseases. It is one of the many genes that are responsible for the development and functioning of the body. The LARGE1 gene is also known as…
SERPINI1 gene, also known as neuroserpin, is a member of the serpin superfamily. It is a gene involved in the development of severe neurological conditions such as epilepsy and familial encephalopathy with neuroserpin inclusion bodies. This gene encodes for the…
The SALL1 gene is responsible for making a protein that plays a crucial role in normal development. Variant forms of this gene are tightly linked to a number of genetic conditions, including Townes-Brocks syndrome and associated anomalies of the urinary…
Glycogen storage disease type IV Glycogen storage disease type IV, also known as glycogenosis type IV or Andersen disease, is a rare genetic condition characterized by the accumulation of abnormal glycogen in tissues throughout the body. This disease is caused…
Familial hypertrophic cardiomyopathy (FHC) is a genetic condition that causes thickening of the heart muscles, leading to impaired heart function. It is one of the most common inherited heart diseases, affecting more people than previously thought. The condition occurs in…