Epidermolysis bullosa with pyloric atresia, also known as EB-PA, is a rare genetic condition that affects the layers of the skin and the underlying tissue. This condition is caused by mutations in the genes ITGB4 and ITGA6, which code for…
Transient Neonatal Diabetes Mellitus (TNDM), also known as 6q24-related TNDM, is a critical condition that affects newborn babies. It is characterized by abnormal blood sugar regulation, with the levels of sugar in the blood not being controlled normally. The name…
Feingold Syndrome, also known as Feingold-Kingston syndrome or oculo-digito-esophageal-duodenal syndrome, is a rare genetic condition that affects multiple systems in the body. It is named after Dr. Bertil Feingold, who first described the syndrome in 1975. The syndrome is caused…
Intranuclear rod myopathy is a rare genetic neuromuscular condition that affects the muscles. It is associated with mutations in the ACTA1 gene, which codes for α-actin, a protein involved in muscle contraction. Each patient with this condition may have different…
The SPECC1L gene is a key regulator of neural cell migration and tissue development. It plays a crucial role in the direction and organization of cells during embryonic development, particularly in the development of the neural tube and the formation…
The WT1 gene, also known as Wilms Tumor 1 gene, is a gene that encodes a transcription factor involved in the development of various organs and tissues. Mutations in this gene have been associated with the development of several diseases…
Hand-foot-genital syndrome, also known as Ludwig syndrome, is a rare genetic condition associated with nonfunctional proteins caused by mutations in the HOXA13 gene. This syndrome affects the development of the hands, feet, and genitalia. The condition is named after the…
UV-sensitive syndrome is a rare genetic condition that is associated with the defective repair of DNA damage caused by exposure to ultraviolet (UV) radiation. This syndrome is also known as Cockayne syndrome, named after the scientists who first described it,…
UNC80 deficiency is a rare genetic condition that affects the tone and function of neurons in the brain. It is named after the UNC80 gene, which is associated with this condition. The UNC80 gene is one of many genes cataloged…
21-hydroxylase deficiency is a rare genetic condition that affects individuals’ ability to produce certain hormones. It is associated with a range of fertility and clinical disorders, including hirsutism and decreased cortisol secretion. This condition is caused by mutations in the…