Congenital generalized lipodystrophy (CGL) is a rare genetic condition characterized by the absence or severe reduction of body fat from birth. It is also known as Berardinelli-Seip congenital lipodystrophy, after the first physicians to describe the condition. CGL affects multiple…
The CTNNB1 gene, also known as the catenin beta-1 gene, is a protein-coding gene that plays a crucial role in cell adhesion and signaling pathways. It encodes for the beta-catenin protein, which is an essential component of the cadherin-associated adhesion…
The F2 gene, also known as the prothrombin gene, is a gene that provides instructions for making prothrombin, a protein essential for blood clotting. Mutations in the F2 gene can lead to a genetic condition called prothrombin deficiency, which is…
Buschke-Ollendorff syndrome (BOS), also called lenticularis disseminata, is a rare genetic condition that affects the skin and bones. It was first described by Wordsworth in 1962 and later named after Buschke and Ollendorff, who reported additional cases of the condition.…
The CFI gene, also known as Complement factor I, is a genetic resource that is listed in various databases and resources for the study of genetic disorders. It plays a crucial role in the macular degeneration and other related disorders.…
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare genetic condition characterized by neurological symptoms such as movement difficulties. It is caused by mutations in the C19orf12 gene, which is responsible for encoding a protein involved in mitochondrial membrane function. MPAN…
The KCNA1 gene is responsible for encoding a protein known as a voltage-gated potassium channel. This protein plays a critical role in the communication between cells, specifically in the nervous system. KCNA1 gene mutations and variants have been identified as…
Van der Woude syndrome is a rare genetic condition that affects the development of the face. It is named after David P. van der Woude, who first described the syndrome in 1954. The syndrome is characterized by the presence of…
The UBA1 gene is a scientific term for the Ubiquitin-Like Modifier Activating Enzyme 1 gene. It is an X-linked gene that is responsible for coding a protein involved in the ubiquitin-like (UBL) protein conjugation pathway. This pathway plays a crucial…
The MIR146A gene, also called microRNA 146a, is a gene that is involved in regulating gene expression. It is located on the minus strand of chromosome 5 in the central region, known as 5q33.3. Mutations or changes in this gene…