Familial isolated pituitary adenoma (FIPA) is a genetic condition characterized by the development of benign tumors called adenomas in the pituitary gland. These adenomas can cause various hormonal imbalances and lead to symptoms such as vision loss, headaches, and hormonal…
Costello syndrome is a rare genetic condition. It was first described in the scientific literature in 1971 by Dr. Jack Costello. The condition is named after him. The syndrome is also known as the “Costello syndrome” or the “Costello syndrome”.…
Schwartz-Jampel syndrome (SJS) is a rare genetic condition that affects the muscles and bones of the body. It is also known as chondrodystrophic myotonia and is classified as a myopathy. The syndrome was first described in 1962 by authors Schwartz…
The RUNX2 gene, also known as Core Binding Factor Subunit Alpha-1 (CBFA1) or Acute Myeloid Leukemia 1 (AML1), is a gene that plays a crucial role in the development of bones and teeth. Mutations in this gene have been associated…
The 5q Minus Syndrome, also known as 5q- Syndrome, is a rare genetic disorder that is associated with a deletion of a portion of the long arm on chromosome 5. This syndrome is a subtype of myelodysplastic syndromes, which are…
Camurati-Engelmann Disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic condition characterized by the thickening of the bones in the arms, legs, and skull. It was first described by Camurati and Engelmann in 1929. The exact causes…
The ANK1 gene is a vital gene related to brain health and hereditary conditions in humans. It provides instructions for producing a protein called ankyrin, which plays a pivotal role in maintaining the shape and stability of cells, especially in…
The TG gene, also known as thyroglobulin gene, is responsible for the production of thyroglobulin, a protein that is crucial for the synthesis of thyroid hormones. Thyroid hormones play a key role in regulating metabolism, growth, and development in the…
The FAT4 gene is a gene that plays an important role in the function of the human body. It is involved in several biological processes and has been linked to various diseases and disorders. The gene is listed in several…
The Au-Kline syndrome is a rare genetic condition that affects the bones and other systems in the body. It is also known as Au-Kline Syndrome, Au-Kline Syndrome 2, or Au-Kline Syndrome, Type 2. Patients with Au-Kline syndrome often experience delayed…