Wilson disease is an inherited disorder that causes excess copper buildup in the liver. In this disease, copper accumulates in various body tissues until it causes damage to multiple organ systems, including the liver tissue, the central nervous system, and more. Although effective treatment for this disease is available, without early diagnosis and therapy, irreversable […]
In recent years, several genes that can cause hearing loss and deafness have been discovered. Today, genetic carriers of mutations in these genes can easily be diagnosed using simple genetic tests. The most common mutations causing hereditary hearing loss and deafness are mutations in the genes connexin 26 and connexin 30, which account for around […]
Tuberous sclerosis (also known as TSC) is a genetic disease that affects 1 in 6,000 births. Although it is a genetic disorder, most cases are not inherited (sporadic), between 66-85% of people with this condition are born to healthy parents who are not carriers of the gene mutation that causes this disease. TSC is a […]
Tyrosinemia type 1 is a severe genetic disorder that manifests during the first six months of a patient’s life. Due to an inherited genetic defect, people with this disease cannot fully break down the amino acid tyrosine, which causes an accumulation of one of the toxic metabolites created during the breaking down of this amino […]
Contrary to popular belief, not every case of fetal
Hemochromatosis (sometimes known as “iron overload”) is a condition
Hemophilia is a genetic disorder in which the blood
Diaphragmatic hernia is a congenital defect in the diaphragm.
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Do not make any use of the content Information on the website does not provideor replace professional or medical advice
