The EYA1 gene is a genetic factor associated with various disorders and anomalies. It is primarily related to branchiootorenal syndrome, a congenital condition characterized by abnormalities in the neck and urinary tract. This gene plays a crucial role in the…
Migraine is a neurological condition characterized by recurring intense headaches, often on one side of the head. These headaches are typically accompanied by other symptoms such as nausea, sensitivity to light and sound, and vomiting. Migraines can last from a…
Genetic testing has become an increasingly popular topic in the field of medicine. Many individuals are interested in learning more about their genetic makeup and how it may impact their health. However, it is important to determine whether a genetic…
Autosomal dominant hypocalcemia, also known as ADH, is a rare inherited syndrome characterized by low levels of calcium in the blood. It is caused by mutations in the CASR gene, which encodes the calcium-sensing receptor. This gene plays a crucial…
The TUBB2B gene is one of the genes that encode for β-tubulin, a protein that is part of the tubulin family. This gene is primarily expressed in the brain and plays a crucial role in the development and function of…
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…
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…
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,…
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…
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…