Trichothiodystrophy (TTD) is a rare genetic condition that affects the hair, skin, and nails. It is caused by mutations in several genes, including GTF2H5. GTF2H5 is one of the genes listed in the genes section of the OMIM database under…
Vibratory urticaria is a rare condition characterized by the occurrence of hives or urticarias in response to vibrations. This condition is often associated with other forms of urticaria, such as heat urticaria or cold urticaria. Vibratory urticaria can be inherited,…
Dopamine transporter deficiency syndrome, also known as DAT deficiency syndrome, is a rare genetic condition characterized by a deficiency of the dopamine transporter. The dopamine transporter, encoded by the SLC6A3 gene, is responsible for the reuptake of dopamine from the…
Microphthalmia is a condition characterized by abnormally small eyeballs. It can occur as an isolated eye abnormality or it can be part of a syndrome with multiple congenital abnormalities. Microphthalmia is sometimes called microphthalmos or nanophthalmos. It can appear with…
The ELOVL4 gene is a gene that has been extensively studied in the field of genetics. Numerous scientific articles and research studies have been published on this gene, and many of them can be found on PubMed, a well-known database…
Gilbert syndrome, also known as Gilbert’s syndrome or Gilbert’s disease, is a genetic condition that affects the liver’s ability to process bilirubin. Bilirubin is a yellow pigment that is produced when red blood cells break down. Normally, the liver filters…
PRICKLE1-related progressive myoclonus epilepsy with ataxia is a rare genetic condition caused by mutations in the PRICKLE1 gene. This gene is responsible for encoding a protein that plays a role in cell signaling and development. Mutations in the PRICKLE1 gene…
Pelizaeus-Merzbacher disease (PMD) is a rare genetic condition that affects the nerve cells of the brain. It is named after the physicians Friedrich Pelizaeus and Ludwig Merzbacher, who first described the disease in the 19th century. PMD is caused by…
Variant Call ANalysis (VCAN) gene, also known as versican, is a gene that plays a crucial role in various biological processes. It is involved in the control of cell adhesion, proliferation, and migration, as well as in the production of…
The SCN9A gene is a gene that encodes for the α-subunit of the Nav1.7 voltage-gated sodium channel. It plays a crucial role in the regulation of pain and is associated with various conditions and disorders, including paroxysmal extreme pain disorder,…