single-gene disorder


Also found in: Dictionary, Thesaurus.
Related to single-gene disorder: Hereditary diseases, Genetic diseases, inherited diseases

single-gene disorder

Genetics A hereditary disorder caused by a mutant allele of a single gene–eg, cystic fibrosis, Duchenne muscular dystrophy, hemophilia, Huntington's disease, retinoblastoma, sickle cell disease; SGDs typically describe classic simple Mendelian patterns of inheritance–autosomal dominant, autosomal recessive, X-linked. See Gene, Mutation. Cf Polygenic disorder.
References in periodicals archive ?
This is the potential first step toward developing targeted "chromosomal therapies," something that was not thought to be feasible given the difficulty surrounding gene therapy for single-gene disorders.
In summary, although NGS-based molecular diagnostics tests are still in their infancy, they have demonstrated excellent clinical utility for single-gene disorders.
Many single-gene disorders (Table 1), including dominant traits such as Huntington's disease and recessive conditions such as cystic fibrosis, can be detected (Sermon et al.
Diseases such as cystic fibrosis, muscular dystrophy, and Huntington's disease are single-gene disorders.
Should these individuals be treated in the same way as those with single-gene disorders, despite the lack of certainty, and allowed to decide whether they want to know the results and its implications or left to live out their lives in ignorance, until the symptoms of this or another disease, which might have been prevented, manifest or not?
And while I share with Levy and Shannon a concern about "gene-hype," an example of where genes do have a powerful influence is single-gene disorders and immune reaction, against which we are able to select.
The goal of this report is to familiarize readers with a public health framework for addressing health problems resulting from a group of primarily single-gene disorders.
Single-gene disorders are caused by a mutation of the gene.
The genetic basis for single-gene disorders is somewhat easier to determine than that of complex ones such as autism.
He accepts that a small number of rare single-gene disorders such as Huntington's disease - which is hereditary and fatal - could result in an increase in costs.
Genes have already been identified for several single-gene disorders that disrupt cognitive processes such as early-onset Alzheimer's disease, phenylkentonuria (PKU), and fragile-X mental retardation.