monogenic disease


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Noun1.monogenic disease - an inherited disease controlled by a single pair of genesmonogenic disease - an inherited disease controlled by a single pair of genes
SCID, severe combined immunodeficiency, severe combined immunodeficiency disease - a congenital disease affecting T cells that can result from a mutation in any one of several different genes; children with it are susceptible to infectious disease; if untreated it is lethal within the first year or two of life
cystic fibrosis, fibrocystic disease of the pancreas, mucoviscidosis, pancreatic fibrosis, CF - the most common congenital disease; the child's lungs and intestines and pancreas become clogged with thick mucus; caused by defect in a single gene; no cure is known
Gaucher's disease - a rare chronic disorder of lipid metabolism of genetic origin
Huntington's chorea, Huntington's disease - hereditary disease; develops in adulthood and ends in dementia
dysostosis multiplex, gargoylism, Hurler's disease, Hurler's syndrome, lipochondrodystrophy - hereditary disease (autosomal recessive) consisting of an error is mucopolysaccharide metabolism; characterized by severe abnormalities in development of skeletal cartilage and bone and mental retardation
neurofibromatosis, von Recklinghausen's disease - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
crescent-cell anaemia, crescent-cell anemia, drepanocytic anaemia, drepanocytic anemia, sickle-cell anaemia, sickle-cell anemia, sickle-cell disease - a congenital form of anemia occurring mostly in blacks; characterized by abnormal blood cells having a crescent shape
infantile amaurotic idiocy, Sachs disease, Tay-Sachs, Tay-Sachs disease - a hereditary disorder of lipid metabolism occurring most frequently in individuals of Jewish descent in eastern Europe; accumulation of lipids in nervous tissue results in death in early childhood
Mediterranean anaemia, Mediterranean anemia, thalassaemia, thalassemia - an inherited form of anemia caused by faulty synthesis of hemoglobin
familial hypercholesterolemia - congenital disorder characterized by high levels of cholesterol and early development of atherosclerosis
References in periodicals archive ?
Autosomal dominant polycystic kidney disease (ADPKD) is the most common life-threatening monogenic disease.
CF is the most frequent monogenic disease in Caucasians but is rare in Asian.
VHL disease is a rare, autosomal dominant, monogenic disease arising from heterozygous mutations of the VHL gene, located on chromosome 3p25.
Alpha (a) thalassemia is a monogenic disease that characterized by decrease or absent synthesis of the a-globin chains due to deletion or mutation in a-globin gene.
AIP is a rare and devastating monogenic disease caused by mutations in the PBGD gene.
A Mendelian or monogenic disease is caused by a change in a single letter out of the 3.
There are a lot of special usages of PCR in clinical diagnosis such as recognition of new mutations, monogenic disease and analyzing of biologic observations, recognition and diagnosis of oncogenes and human infectious diseases [16, 17, 18].
In the former case, discovery efforts continue globally, and over time we will understand the primary genetic lesions that cause all monogenic disease.
The second half of the text covers applications in more detail and offers chapters on quantitative analyses of DNA methylation, mitochondrial DNA analysis, real-time immuno-PCR, clinical microbiology and virology, solid organ transplant modeling,real-time-PCR applications in hematology, and prenatal diagnosis of monogenic disease caused by single nucleotide changes.
She also currently serves as the Executive Chairman of GenePeeks, a computational genomics company offering proprietary technology to help identify the pre-conception risk of passing on monogenic disease to progeny.
Unlike type 1 and type 2 diabetes, which are polygenic and result from alterations in genetic and environmental factors, MODY is a monogenic disease that results from mutations in a single gene.
Sickle cell disease (SCD), the commonest monogenic disease in humans, is caused by a point mutation leading to a single amino acid substitution in the beta-subunit of haemoglobin (Hb), the principal oxygen transporter in red blood cells.