Search results
Results from the WOW.Com Content Network
It is the most frequent genetic disease in the U.S. with a prevalence of 1:300 in the non-Hispanic white population, [8] [76] It is 2-3 times more common in males. [ 9 ] Genetics studies suggest the original haemochromatosis mutation arose in a single person, possibly of Celtic ethnicity, who lived 60–70 generations ago. [ 77 ]
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosome abnormality. Although polygenic disorders are the most common, the term is mostly used when discussing disorders with a single genetic cause ...
Frequency. 1 in 4,000 (males), 1 in 8,000 (females) [1] Fragile X syndrome (FXS) is a genetic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability. [1] The average IQ in males with FXS is under 55, while about two thirds of affected females are intellectually disabled. [3][4] Physical features may include a long ...
Cowden syndrome (also known as Cowden's disease and multiple hamartoma syndrome) is an autosomal dominant inherited condition characterized by benign overgrowths called hamartomas as well as an increased lifetime risk of breast, thyroid, uterine, and other cancers. [1] It is often underdiagnosed due to variability in disease presentation, but ...
Alpha-1 antitrypsin deficiency (A1AD or AATD) is a genetic disorder that may result in lung disease or liver disease. [1] Onset of lung problems is typically between 20 and 50 years of age. [1] This may result in shortness of breath, wheezing, or an increased risk of lung infections. [1][2] Complications may include chronic obstructive ...
Rett syndrome is due to a genetic mutation in the MECP2 gene, [4] on the X chromosome. [5] It almost always occurs as a new mutation, with less than one percent of cases being inherited. [4] [5] It occurs almost exclusively in girls; [4] boys who have a similar mutation typically die shortly after birth. [5]
Factor V Leiden is an autosomal dominant genetic condition that exhibits incomplete penetrance, i.e. not every person who has the mutation develops the disease. The condition results in a factor V variant that cannot be as easily degraded by activated protein C. The gene that codes the protein is referred to as F5.