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…
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…
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…
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…
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…
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…
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,…
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare genetic disorder with an autosomal recessive inheritance pattern. It is also known as autoimmune polyglandular syndrome type 1 (APS1). APECED is characterized by the presence of multiple endocrine organ failure, chronic mucocutaneous candidiasis,…
Kaufman oculocerebrofacial syndrome is a rare condition characterized by a distinct facial appearance, developmental delay, and other neurological abnormalities. It was first described in 1970 by David W. Kaufman and Robert J. Bauman. The syndrome is also known as 3q23…
Coffin-Lowry syndrome is a rare genetic condition that primarily affects males. It is a rare inheritance condition that is caused by mutations in the RPS6KA3 gene. The syndrome is characterized by severe intellectual disability, distinctive facial features, and delayed development.…