Laryngo-onycho-cutaneous syndrome is a rare genetic condition that is associated with defects of the larynx, nails, and skin. It is also known as LOCS syndrome. The condition is caused by mutations in the GAN gene, which is responsible for the…
The LPAR6 gene, also known as Lysophosphatidic acid receptor 6, is one of the genes that are responsible for regulating the production and function of lysophosphatidic acid (LPA). LPA is a type of lipid molecule that plays a crucial role…
The EDARADD gene, also known as the Wohlfart-Lugan syndrome, is responsible for a rare genetic disorder called ectodermal dysplasia with ectrodactyly and syndactyly. The EDARADD gene is located on chromosome 1q42.2 and encodes a protein that plays a crucial role…
The YWHAE gene, also known as tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide, is a gene that is listed in the Online Mendelian Inheritance in Man (OMIM) database. It provides information on the gene’s function, associated disorders and conditions, and…
Familial encephalopathy with neuroserpin inclusion bodies is a rare genetic condition characterized by the presence of inclusion bodies in the brain. The condition is caused by mutations in the neuroserpin gene, which is responsible for producing a protein that regulates…
Tourette syndrome is a rare genetic condition that affects about 3 in every 1,000 people. It is characterized by involuntary movements and vocalizations called tics. The exact cause of Tourette syndrome is still unclear, but it is believed to be…
Triple A syndrome, also known as Allgrove syndrome, is a rare condition with unknown causes. It is characterized by the triad of adrenal insufficiency, achalasia, and alacrima. The syndrome was first described in 1978 by Allgrove et al., and since…
Genomic imprinting and uniparental disomy (UPD) are two important topics in the field of genetics. They both involve inheriting genetic information that is used in different ways than the usual inheritance process. Genomic imprinting refers to the process by which…
The IFT43 gene, also known as Intraflagellar Transport 43, is a gene that is associated with various conditions and diseases. This gene has different names such as IFT43, C14orf179, and FLJ13733. Testing the IFT43 gene can help diagnose cranioectodermal dysplasia,…
The ELN gene, also known as elastin, is a key component in the development and maintenance of various tissues and organs in the body. Mutations in the ELN gene have been found to be associated with a range of genetic…