These include syndromic conditions like neurofibromatosis 1 and 2, von Hippel-Lindau syndrome, Gorlin syndrome, multiple endocrine neoplasia, and familial adenomatous polyposis; and conditions which are usually not possible to diagnose clinically in a single individual, such as Lynch syndrome and BRCA1/2.
What is a genetic disease that only affects females?
Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has 1 normal X sex chromosome, rather than the usual 2. This chromosome variation happens randomly when the baby is conceived in the womb. It is not linked to the mother's age.
You also can inherit diseases, or a greater likelihood of getting a disease, from either parent. How much of an influence either parent's genes have depends on the disease.
Genetics. ADHD tends to run in families and, in most cases, it's thought the genes you inherit from your parents are a significant factor in developing the condition. Research shows that parents and siblings of someone with ADHD are more likely to have ADHD themselves.
A genetic condition occurs when you inherit an altered (changed) gene from your parents that increases your risk of developing that particular condition. However not all genetic conditions are passed down from your parents, some gene changes occur randomly before you are born. Many health conditions run in families.
ASD is highly genetically heterogeneous and may be caused by both inheritable and de novo gene variations. In the past decade, hundreds of genes have been identified that contribute to the serious deficits in communication, social cognition, and behavior that patients often experience.
There are over 10,000 human disorders caused by a change, known as a mutation, in a single gene. Individually, single gene disorders are each very rare, but as a whole, they affect about one per cent of the population.
Such disorders are known as genetic disorders. Some genetic disorders are innate, i.e., present by birth, while others are acquired due to mutations in a particular gene. The genetic disorders that are present by birth are inherited from parents, e.g. cystic fibrosis, haemophilia, sickle cell anaemia, etc.
These diseases can include some types of cancer and heart disease. Presymptomatic genetic testing can tell if a person with a family history for a genetic disease but does not have symptoms or has a genetic alteration associated with the disease.
Progeria (pro-JEER-e-uh), also known as Hutchinson-Gilford progeria syndrome, is an extremely rare, progressive genetic disorder. It causes children to age rapidly, starting in their first two years of life.
Some of the more common single-gene disorders include cystic fibrosis, hemochromatosis, Tay-Sachs, and sickle cell anemia. Even though these diseases are primarily caused by a single gene, several different mutations can result in the same disease but with varying degrees of severity and phenotype.
