Bart-Pumphrey syndrome is a rare genetic condition that causes a variety of symptoms, including leuconychia (white nails), palmoplantar keratoderma (thickened skin on the palms of the hands and soles of the feet), and hearing loss. The syndrome is associated with…
The SLC9A6 gene, also known as the sodiumhydrogen exchangers related to Christianson (NHE-RF), plays a crucial role in the recycling and changes of sodium and hydrogen ions in cells. Mutations in this gene are associated with a rare genetic condition…
The SIX5 gene is a gene known to be associated with various conditions and disorders. It belongs to the branchiootorenal (BOR) syndrome, a genetic disorder characterized by several congenital anomalies. Named for its discovery on chromosome 19, this gene disrupts…
CDKL5 deficiency disorder is a rare genetic disorder associated with severe neurodevelopmental disability. It is characterized by early-onset epilepsy, developmental delay, intellectual disability, and hand stereotypies. The disorder is caused by variants in the CDKL5 gene located on the X…
Familial thoracic aortic aneurysm and dissection, also known as FTAD, is a rare genetic condition that affects the central artery of the body, the aorta. This condition is heritable and can cause life-threatening dissections in affected individuals and their family…
Congenital methemoglobinemia is a hereditary condition that affects the body’s ability to deliver oxygen to tissues. It is caused by mutations in the genes that encode the enzyme responsible for converting methemoglobin back into normal hemoglobin. This condition is inherited…
The LETM1 gene, short for Leucine zipper and EF-Hand containing transmembrane 1 gene, is an important gene involved in mitochondrial function. Mutations in this gene have been linked to various diseases and conditions. The LETM1 gene is located on chromosome…
X-linked juvenile retinoschisis (XLRS), also known as congenital retinoschisis, is a rare genetic condition that affects the retina, the light-sensitive tissue in the back of the eye. It primarily affects males, with a frequency of approximately 1 in 15,000 to…
Hereditary xanthinuria is a rare genetic condition characterized by high levels of xanthine in the urine. It is caused by mutations in genes involved in the conversion of xanthine to uric acid. This condition can cause a variety of symptoms,…
The ATXN1 gene is a genetic segment that codes for the ataxin-1 protein. This gene has been found to undergo changes, known as variants or mutations, that can lead to various diseases and conditions. One of the well-known conditions associated…