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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.
The opposite of a hereditary disease is an acquired disease. Most cancers , although they involve genetic mutations to a small proportion of cells in the body, are acquired diseases. Some cancer syndromes , however, such as BRCA mutations , are hereditary genetic disorders.
Genes are the common factor of the qualities of most human-inherited traits. Study of human genetics can answer questions about human nature, can help understand diseases and the development of effective treatment and help us to understand the genetics of human life. This article describes only basic features of human genetics; for the genetics ...
Huntington's disease; Hirschsprung's disease, or congenital aganglionic megacolon; Hypertrichosis; Hypoglossia; Hypomelanism or hypomelanosis (albinism) Hypospadias; Haemophilia; Heterochromia; Hemochromatosis
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
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 ]
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
Haemophilia (British English), or hemophilia (American English) [6] (from Ancient Greek αἷμα (haîma) 'blood' and φιλία (philía) 'love of'), [7] is a mostly inherited genetic disorder that impairs the body's ability to make blood clots, a process needed to stop bleeding.
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related to: hereditary diseases in humans