Wiedemann-Rautenstrauch syndrome, also known as neonatal progeroid syndrome, is a rare genetic condition that affects infants. It is characterized by premature aging, abnormal growth, and developmental delay. The syndrome was first described in 1979 by Wiedemann and Rautenstrauch, and since…
3-hydroxy-3-methylglutaryl-CoA lyase deficiency, also known as HMGCL deficiency, is a rare genetic condition that affects the body’s ability to break down certain fats for energy. This condition is caused by mutations in the HMGCL gene. Patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency…
Koolen-de Vries syndrome, also known as 17q21.31 microdeletion syndrome, is a rare genetic condition that was first described in 2006 by J.M. Koolen, et al. It is characterized by developmental delay, intellectual disability, congenital anomalies, and dysmorphic features. Patients with…
The WDR19 gene, also known as the WD repeat-containing protein 19 gene, is responsible for encoding a protein that plays a critical role in the development and function of cilia. Cilia are tiny, hair-like structures that extend from the surface…
The PDHA1 gene is responsible for encoding the E1-alpha subunit of the pyruvate dehydrogenase complex. This complex is essential for the conversion of pyruvate to acetyl-CoA, which is a crucial step in energy production within cells. Deficiency in the PDHA1…
The NR5A1 gene, also known as the steroidogenic factor 1 (SF-1) gene, plays a crucial role in the development and function of the adrenal glands and gonads. Mutations in this gene have been linked to a wide range of conditions…
The TGFB1 gene, encoding the protein Transforming Growth Factor beta 1 (TGFβ-1), is a well-studied gene with significant implications in various health conditions. It is known to have an active role in regulating cell growth and proliferation, particularly in pulmonary…
Paget disease of bone, also known as osteitis deformans, is a rare genetic disorder that affects the bones. It was first described by Sir James Paget in the 19th century, and since then, extensive research and scientific studies have been…
Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare genetic disorder that primarily affects males. It is caused by mutations in the IDS gene, which leads to a deficiency of the enzyme iduronate-2-sulfatase. This enzyme is responsible for…
The SUCLA2 gene is a gene associated with various health conditions and syndromes. It is listed in genetic databases as a gene that can cause diseases and is often used in genetic testing. This gene is specifically associated with succinate-CoA…