Diseases that are caused by mutations in one gene. They sometimes run in families.
This report includes markers related to diseases result from modifications in a single gene occurring in all cells of the body. Though relatively rare, they affect millions of people worldwide. Pure genetic diseases are caused by a single error in a single gene in the human DNA.
The single-gene or monogenic diseases can be classified into three main categories: Dominant, Recessive and X-linked and are inherited (passed on from one generation to another) in a simple pattern according to Mendel’s Laws. A parent has two copies of a gene at a particular locus, called alleles – one or other of these alleles is transmitted into an individual egg or sperm. This is called the law of segregation, and is why there is a 1 in 2 probability that an offspring will inherit a particular allele of a particular pair of alleles.
Ehlers-Danlos syndrome
Ehlers-Danlos syndrome is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues. Defects in connective tissues cause the signs and symptoms of these conditions, which range from mildly loose joints to life-threatening complications.
Please note that Genomapp is not for diagnostic use, it does not provide medical advice and is not a substitute for it. Consult with your health specialist if you have any question.