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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.
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.
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.
An example of the codominant inheritance of some of the four blood groups. Mendelian traits in humans are human traits that are substantially influenced by Mendelian inheritance. Most – if not all – Mendelian traits are also influenced by other genes, the environment, immune responses, and chance.
RNU4-2 / ReNU syndrome is one of the most prevalent monogenic neurodevelopmental disorders, with variants in RNU4-2 estimated to account for around 0.4% of all neurodevelopmental disorders. [2] The syndrome is an autosomal dominant genetic disorder caused by de novo variants in RNU4-2 , a gene on chromosome 12 , which encodes the small nuclear ...
Monogenic may refer to: Monogenic signal, in the theory of analytic signals; Monogenic disorder, disease, inheritance, or trait, a single gene disorder resulting from a single mutated gene. Monogenic diabetes, or maturity-onset diabetes of the young (MODY), forms of diabetes caused by mutations in an autosomal dominant gene; Monogenic obesity
More than 145 monogenic diseases have been identified that cause dementia with onset in childhood. Examples include lysosomal disorders such as Sanfilippo syndrome, Niemann-Pick disease type C and Neuronal Ceroid Lipofuscinoses (NCLs or Batten Disease), some mitochondrial diseases such as Leigh syndrome and peroxisomal disorders such as X ...
Galactosemia, the inability to metabolize galactose in liver cells, is the most common monogenic disorder of carbohydrate metabolism, affecting 1 in every 55,000 newborns. [2] When galactose in the body is not broken down, it accumulates in tissues. The most common signs are failure to thrive, hepatic insufficiency, cataracts and developmental ...