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…
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…
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…
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…
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,…
Jackson-Weiss syndrome is a rare genetic condition associated with the fusion of certain bones in the skull and the abnormal development of the toes. This rare disorder is caused by mutations in specific genes, which are inherited in an autosomal…
The ACAT1 gene, also known as the acetoacetyl-CoA thiolase gene, is a genetic variant that plays a key role in the breakdown of certain fats in the body. This gene is listed in the scientific databases and genetic testing resources…
Deafness and infertility are two separate conditions that can occur independently. However, in some cases, these conditions may be related and have a common underlying cause. One such condition is known as sensorineural deafness-infertility syndrome, which affects both hearing and…
Intrauterine growth restriction metaphyseal dysplasia adrenal hypoplasia congenita and genital anomalies, also known as IUGRMDAHCA syndrome, is a rare genetic condition that affects the growth and development of the fetus during pregnancy. This condition is associated with underdevelopment of the…
The GRN gene is a protein-coding gene that is thought to play a role in the development and growth of nerve cells in the central nervous system. It is also associated with various conditions related to frontotemporal degeneration, a disorder…