Cornelia de Lange syndrome (CdLS) is a rare genetic disorder that affects multiple parts of the body. It is associated with altered function of certain genes, particularly the NIPBL, SMC1A, and SMC3 genes. CdLS is also known by other names,…
The LZTR1 gene, also known as the leucine zipper-like transcriptional regulator 1 gene, is a gene associated with several genetic conditions, including Noonan syndrome and schwannomatosis. It is involved in the regulation of transcriptional processes and is related to the…
Ataxia-telangiectasia (AT) is a rare genetic condition that affects multiple systems in the body. It is caused by alterations in the genes responsible for cell cycle control and DNA repair. AT is characterized by a wide range of symptoms, including…
Beta thalassemia is a genetic condition that affects the production of beta-globin, a protein that is a major component of hemoglobin. Hemoglobin is responsible for carrying oxygen to the body’s tissues. Beta thalassemia is a rare blood disorder, and it…
In the field of genetic research, understanding the names of genetic conditions and genes is crucial for the more effective development of treatments and improving overall health outcomes. Genetic conditions, which are often referred to as genetic diseases, are disorders…
The CLPP gene is a gene that plays a crucial role in health and disease. It is responsible for encoding the CLPP protein, which is a subunit of the barrel-shaped CLP protease complex. This complex is involved in the degradation…
Myosin storage myopathy (MSM) is a rare genetic condition that affects the muscles. It is characterized by the abnormal accumulation of myosin, a protein involved in muscle contraction, within muscle fibers. This condition can cause muscle weakness, stiffness, and difficulty…
Romano-Ward syndrome is a rare genetic disorder that affects the electrical activity of the heart. It is named after the two researchers who first described this condition, Dr. Arthur Romano and Dr. Peter Ward. This syndrome is characterized by a…
Constitutional mismatch repair deficiency syndrome (CMMRD) is a rare genetic condition that is associated with a high risk of developing certain types of cancerous tumors. It is caused by a deficiency in the genes responsible for mismatch repair, a process…
Cardiac valvular dysplasia is a rare genetic condition associated with abnormalities in the central valves of the heart. It is sometimes called X-linked cardiac valvular dysplasia, as it is caused by mutations in the FLNA gene on the X chromosome.…