The SALL4 gene is a genetic variant that plays a crucial role in various developmental processes in the human body. It has been linked to a number of disorders and conditions, including coloboma, limb abnormalities, and changes in organ function.…
Fanconi Anemia (FA) is a rare genetic condition that affects both males and females. It is characterized by a pattern of bone marrow failure, physical abnormalities, and an increased risk of cancer. FA is caused by mutations in genes that…
Central precocious puberty (CPP) is a condition in which girls experience early puberty, typically before the age of 8. It is characterized by the early development of secondary sexual characteristics, such as breast development and the onset of menstruation. CPP…
The ring chromosome 14 syndrome is a rare genetic condition that affects the structure and function of chromosome 14. This condition is characterized by the presence of a ring-shaped chromosome, which occurs when the ends of the chromosome fuse together.…
The SOD1 gene, also known as superoxide dismutase 1, is a genetic molecule that plays a crucial role in protecting cells from harmful radicals. It is responsible for producing an enzyme that converts superoxide radicals into oxygen and hydrogen peroxide,…
The GP6 gene is responsible for encoding the glycoprotein VI (GPVI) receptor on platelets. Mutations in this gene can cause GPVI deficiency, a genetic condition that affects the function of platelet receptors. GPVI deficiency is associated with a variety of…
The KCNQ1 gene, also known as the potassium voltage-gated channel subfamily Q member 1, plays a crucial role in the cardiovascular system. Mutations in this gene have been linked to various cardiac conditions, including Romano-Ward syndrome, Jervell and Lange-Nielsen syndrome,…
The ZFP57 gene, also known as zinc finger protein 57, is a gene that plays a crucial role in genomic imprinting. Imprinting is a process by which certain genes are “marked” as either maternal or paternal and their expression is…
Lymphedema-distichiasis syndrome is a rare genetic condition associated with the abnormal development of the lymphatic system and the presence of extra eyelashes. It is caused by mutations in the FOXC2 gene, which is involved in the development of the lymphatic…
Complement factor I deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the genes responsible for producing complement factor I, a protein that helps regulate the immune response. People with complement factor…