Familial hypertrophic cardiomyopathy (FHC) is a genetic condition that causes thickening of the heart muscles, leading to impaired heart function. It is one of the most common inherited heart diseases, affecting more people than previously thought. The condition occurs in…
The DCX gene is a genetic result that has been linked to several neurological conditions. It stands for doublecortin and is responsible for a protein that plays a role in the migration of neurons during brain development. Changes in the…
SOST-related sclerosing bone dysplasia is a rare genetic condition that affects the bones. It is associated with a mutation in the SOST gene, which codes for sclerostin, a protein that regulates bone development and growth. Patients with SOST-related sclerosing bone…
The clpb gene is a genetic disorder that can cause a range of health conditions. It is listed in various databases and resources, such as OMIM and PubMed, which provide additional information and references related to this gene. CLPB gene…
The IRF5 gene, also known as Interferon Regulatory Factor 5, is a vital gene that plays a significant role in regulating the body’s immune response to viruses and other pathogens. It is involved in the production of interferon, a protein…
Leber congenital amaurosis (LCA) refers to a group of rare genetic disorders that cause severe vision loss and visual impairment from birth or within the first few months of life. LCA is known to be caused by mutations in at…
SATB2-associated syndrome is a rare genetic condition that is caused by mutations in the SATB2 gene. The syndrome is associated with a range of physical and developmental disabilities. The SATB2 gene is located on chromosome 2q32-q33 and is involved in…
Ultrasounds are a type of medical imaging exam that uses high-frequency sound waves to create images of the inside of your body. Unlike other imaging techniques, such as X-rays or CT scans, ultrasounds do not use radiation, making them a…
The BMPR1A gene, also known as bone morphogenetic protein receptor type 1A, is a gene that plays a crucial role in the health and development of individuals. Mutations in the BMPR1A gene have been found to be associated with a…
Congenital fibrosis of the extraocular muscles (CFEOM) is a rare genetic condition that affects eye movement. It is also known as fibrosis of the extraocular muscles or hereditary external ophthalmoplegia. In CFEOM, the extraocular muscles, which control the movements of…