Birt-Hogg-Dubé syndrome (BHDS) is a rare genetic syndrome that is associated with the folliculin (FLCN) gene. This condition is named after the three Canadian doctors who initially described the syndrome in 1977. BHDS is characterized by the development of benign…
The FANCG gene is one of the many genes that play a crucial role in Fanconi anemia, a rare genetic disorder that affects the body’s ability to repair damaged DNA. Variants in the FANCG gene can cause deficiencies in certain…
The GSN (Gelsolin) gene is responsible for producing a protein called gelsolin. Gelsolin plays a crucial role in actin filament dynamics, which is essential for cell structure and movement. Mutations in the GSN gene can lead to a variety of…
Isovaleric acidemia is a rare genetic condition that affects the way the body breaks down proteins from food. It is caused by a deficiency of the enzyme isovaleryl-CoA dehydrogenase, which is needed to properly metabolize the amino acid leucine. Without…
The STXBP1 gene is a key gene involved in neurodevelopmental disorders. It is associated with various clinical conditions, including Lennox-Gastaut syndrome, epilepsia, and other forms of encephalopathy. This gene plays a crucial role in the formation and release of neurotransmitters,…
X-linked thrombocytopenia is a rare genetic condition characterized by a decreased number of platelets in the blood. It is caused by mutations in genes located on the X chromosome, which is one of the sex chromosomes. Thrombocytopenia refers to a…
Leber Hereditary Optic Neuropathy (LHON) is a rare mitochondrial genetic disorder. It is characterized by the progressive loss of vision, typically affecting young adults, mostly males. LHON is named after Theodor Leber, a German ophthalmologist, who first described the condition…
Graves’ disease is the most common cause of hyperthyroidism, a condition in which the thyroid glands produce excessive thyroid hormones. It is an autoimmune disorder that occurs when the immune system mistakenly attacks the thyroid gland, causing it to overproduce…
The LMNA gene plays a crucial role in the development of various conditions and abnormalities. Variants in this gene can lead to the production of abnormal proteins, which can result in restrictive movement, musculoskeletal abnormalities, and various other health issues.…
The KRT3 gene is a gene that is associated with various diseases. It is one of the many genes listed in the OMIM database, which provides information on genetic diseases and other health conditions. Mutations in the KRT3 gene have…