Kindler Epidermolysis Bullosa is a rare genetic condition that affects the skin. It is characterized by the formation of blisters and erosions on the skin, particularly in areas exposed to friction or trauma. The frequency of this condition is not…
Mitochondrial trifunctional protein deficiency is a rare genetic condition that affects the functions of the mitochondria, the energy-producing structures within cells. This condition is caused by mutations in the HADHA or HADHB genes, which provide instructions for making the mitochondrial…
Melanoma is a rare and potentially deadly skin condition that is often associated with genetic factors. According to the American Academy of Dermatology, melanoma is the most dangerous form of skin cancer, with over 100,000 new cases diagnosed each year…
The CHD7 gene is associated with a variety of syndromes and disorders, including CHARGE syndrome, a rare genetic disorder characterized by a wide range of birth defects. CHD7 stands for “chromodomain helicase DNA binding protein 7”. CHD7 gene mutations can…
The ATP1A1 gene, also known as the alpha-a subunit of the Na+/K+ -ATPase, is a genetic variant that has been associated with several diseases and conditions. One of these conditions is Charcot-Marie-Tooth disease, a neurological disorder that affects the peripheral…
The TPMT gene is a catalog of health-related information for the TPMT gene. This gene is known for its role in immune response and is considered a genetic variant in pharmacogenetics. The TPMT gene is listed as one of the…
The DNAI1 gene is known to be associated with various conditions, including primary ciliary dyskinesia (PCD), heterotaxy syndrome, and other ciliary diseases. It codes for a protein that plays a crucial role in the function of cilia, which are important…
Mevalonate kinase deficiency, also known as mevalonic aciduria or hyper-immunoglobulinemia D syndrome (HIDS), is a rare genetic condition that affects the activity of the mevalonate kinase gene. This condition is characterized by recurrent episodes of fever, skin rash, diarrhea, and…
Complete LCAT deficiency Complete LCAT deficiency, also known as familial lecithin-cholesterol acyltransferase (LCAT) deficiency, is a genetic condition that affects the functions of the LCAT gene. This rare genetic disorder can lead to various health problems and complications. Complete LCAT…
FOXG1 syndrome, also known as congenital variant of Rett syndrome, is a rare genetic condition caused by mutations in the FOXG1 gene. This syndrome has been associated with a wide range of severe impairments in intellectual and physical development, resulting…