monogenic disorder

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Noun1.monogenic disorder - an inherited disease controlled by a single pair of genesmonogenic disorder - 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 ?
BGI Health provides genetic testing of chromosome diseases, monogenic disorder, hereditary hearing loss, thalassemia, neonatal hereditary metabolic disease, leukaemia, cervical cancer and hepatitis by using the screening and diagnosis technology system throughout the human life cycle.
17-[alpha]-hydroxylase enzyme has a crucial role in the steroid biosynthesis and, deficiency of this enzyme is an autosomal recessive monogenic disorder which is one of the two hypertensive form of congenital adrenal hyperplasia.
Traditionally, IHH has been considered a monogenic disorder but now it is widely appreciated that IHH is characterized by significant heterogeneity.
Familial hypercholesterolemia was the first monogenic disorder shown to cause elevated cholesterol levels (Nabel, 2003).
FH is relatively common (prevalence 1:200-1:500) and is therefore the most important monogenic disorder of lipoprotein metabolism.
Role of genes in arrhythmogenesis due to monogenic disorder
3) A monogenic disorder affects treatment goals and genetic counselling may be offered.
KWE is an autosomal dominant, monogenic disorder with high penetrance.
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.