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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 ...
A hereditary carrier (genetic carrier or just carrier), is a person or other organism that has inherited a recessive allele for a genetic trait or mutation but usually does not display that trait or show symptoms of the disease. Carriers are, however, able to pass the allele onto their offspring, who may then express the genetic trait.
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. [1][2] The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on ...
A hereditary cancer syndrome (familial/family cancer syndrome, inherited cancer syndrome, cancer predisposition syndrome, cancer syndrome, etc.) is a genetic disorder in which inherited genetic mutations in one or more genes predispose the affected individuals to the development of cancer and may also cause early onset of these cancers.
Haploinsufficiency in genetics describes a model of dominant gene action in diploid organisms, in which a single copy of the wild-type allele at a locus in heterozygous combination with a variant allele is insufficient to produce the wild-type phenotype. Haploinsufficiency may arise from a de novo or inherited loss-of-function mutation in the ...
An asymptomatic carrier is a person or other organism that has become infected with a pathogen, but shows no signs or symptoms. [1] Although unaffected by the pathogen, carriers can transmit it to others or develop symptoms in later stages of the disease. Asymptomatic carriers play a critical role in the transmission of common infectious ...
Specialty. Endocrinology. Maturity-onset diabetes of the young (MODY) refers to any of several hereditary forms of diabetes mellitus caused by mutations in an autosomal dominant gene disrupting insulin production. [1] Along with neonatal diabetes, MODY is a form of the conditions known as monogenic diabetes.
Discrimination. The social determinants of health (SDOH) are the economic and social conditions that influence individual and group differences in health status. [1] They are the health promoting factors found in one's living and working conditions (such as the distribution of income, wealth, influence, and power), rather than individual risk ...