Jacobsen syndrome, also known as 11q terminal deletion disorder, is a rare genetic condition caused by a deletion on the long arm of chromosome 11. This condition affects approximately 1 in 100,000 live births, making it a rare disorder. The…
The JUP gene, also known as the junction plakoglobin gene, is a scientific term used to refer to a gene that is involved in the development and maintenance of cell structures. Genes, in general, are responsible for encoding the instructions…
The LDB3 gene is a key factor in the formation of myofibrillar structures in muscles. Mutations in this gene have been linked to various health conditions, particularly myopathy. This gene plays a crucial role in the proper functioning of the…
Myoclonic epilepsy myopathy sensory ataxia (MEMSA) is a rare genetic condition that affects the muscles and the nervous system. It is an autosomal recessive disease, which means that it is inherited when both parents carry the gene mutation. MEMSA is…
Breast cancer is a form of cancer that affects the cells in the breast. It is one of the most common cancers among women, with more than a million cases diagnosed each year worldwide. The symptoms of breast cancer can…
The ETV6 gene is a part of the ETS family of transcription factors. It plays a crucial role in various biological processes, including cell growth, differentiation, and development. Mutations in the ETV6 gene have been associated with several diseases, including…
Larsen Syndrome is a rare genetic condition that affects the development of bones. It is caused by alterations in certain genes and is generally present at birth. The syndrome is typically inherited in an autosomal recessive pattern, but in some…
The FAM111B gene is a protein-coding gene that is involved in several hereditary conditions. It is part of the catalog of genes known as the poiktmp gene family, which plays a role in various cellular processes. One of the main…
The TRNT1 gene, also known as CCA-adding tRNA nucleotidyltransferase 1, is a gene that is involved in the modification of transfer RNA molecules. Transfer RNA (tRNA) is a type of RNA molecule that is essential for protein synthesis in cells.…
Autoimmune lymphoproliferative syndrome (ALPS) is a rare genetic disorder that affects the body’s immune system. In ALPS, the body’s immune cells, specifically lymphocytes, accumulate, leading to lymphoproliferation. This excess lymphoproliferation can cause a wide range of symptoms, including autoimmune disorders,…