monogenic disorder


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monogenic disorder

A disorder caused by mutation of a single gene—i.e., based on simple mendelian genetics.
References in periodicals archive ?
To study the prevalence of lipid abnormalities and recognition of monogenic disorders of lipoprotein metabolism in this population, an audit of the lipid requests was performed at this hospital.
The most definitive role for genes in arrhythmogenesis came from the study of monogenic disorders that result in sudden death.
(3) A monogenic disorder affects treatment goals and genetic counselling may be offered.
KWE is an autosomal dominant, monogenic disorder with high penetrance.
For example, the discovery of mutations in the CFTR gene was a major breakthrough in the understanding and diagnosis of the "monogenic disorder" CF.
Monogenic disorders causing low-density lipoprotein cholesterol (LDL-C) concentrations >5 mmol/L, such as heterozygous familial hypercholesterolaemia (FH) or homozygous FH with LDL-C concentrations >13 mmol/L, confer much higher risk.
MODY describes a cluster of monogenic disorders that are inherited in an autosomal dominant manner.
Thalassemia: Impact of Consanguineous Marriages on most Prevalent Monogenic Disorders of Humans.
Primary HLH consists of monogenic disorders that mainly affect the perforin-mediated cytotoxicity of cytotoxic T-lymphocytes and natural killer cells; the secondary HLH typically occurs in immunocompromised hosts and strong immunologic activation is triggered by immunosuppressant drugs, malignancies or infections.
The innate disorders of haemoglobin (Hb) are the most frequent monogenic disorders worldwide.
Sickle cell anaemia is one of the most common monogenic disorders globally with an autosomal recessive inheritance.
Sequencing of the exome, rather than the entire human genome, is a reasonably efficient strategy to search for rare monogenic disorders. Our study illustrates that WES can provide a rapid and cheap way to diagnose a rare disease and thus can serve as a powerful diagnostic tool.