Malignant Migrating Partial Seizures of Infancy (MMPSeI) is a rare genetic condition that affects infants in the first few months of life. It is characterized by frequent seizures that can occur multiple times in a day. These seizures are known…
The FKBP10 gene, also known as the FKBP65 gene, is located on chromosome 17. It is involved in a genetic condition called osteogenesis imperfecta (OI), which leads to brittle bones and other deformities. FKBP10 is a member of the FK506-binding…
The RAB23 gene is a central player in cellular signaling pathways. It is involved in various conditions and diseases, including genetic syndromes such as Carpenter syndrome and Wilkie syndrome. The gene, also known as RAB23, is listed in scientific databases…
Sheldon-Hall Syndrome, also known as distal arthrogryposis type 2B, is a rare genetic condition that affects the muscles and joints, causing limited movement and contractures in the hands, feet, and other parts of the body. It is caused by mutations…
The SDHAF2 gene, also known as SDH5, is a nuclear gene that encodes a protein called succinate dehydrogenase complex assembly factor 2. This protein plays a critical role in stabilizing the succinate dehydrogenase (SDH) complex, which is involved in the…
The ANO5 gene, also known as Anoctamin 5, is a gene that is related to a group of proteins called anoctamins. These proteins are involved in ion channel activity and are found in various tissues in the body, including muscles.…
The SGCB gene, also known as sarcoglycan beta (dystrophin-associated glycoprotein 2), is one of several genes involved in the formation of a protein complex called the sarcoglycan complex. Mutations in this gene can lead to muscular dystrophy and other genetic…
The 16p11.2 duplication is a rare genetic condition that is caused by an extra copy of a specific region of chromosome 16 called 16p11.2. This condition affects the normal functioning of certain genes in the duplicated region, leading to a…
The STING1 gene is a crucial component of the human immune system. It plays a significant role in sensing and responding to viral and microbial infections. STING1, also known as stimulator of interferon genes, is involved in the production of…
Nail-patella syndrome (NPS), also known as hereditary onychoosteodysplasia or iliac horn syndrome, is a rare genetic condition that is usually associated with abnormalities of the nails and skeletal system. NPS is caused by mutations in the LMX1B gene, which encodes…