genetic defect


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Noun1.genetic defect - a disease or disorder that is inherited geneticallygenetic defect - a disease or disorder that is inherited genetically
disease - an impairment of health or a condition of abnormal functioning
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
polygenic disease, polygenic disorder - an inherited disease controlled by several genes at once
achondroplasia, achondroplasty, chondrodystrophy, osteosclerosis congenita - an inherited skeletal disorder beginning before birth; cartilage is converted to bone resulting in dwarfism
abetalipoproteinemia - a rare inherited disorder of fat metabolism; characterized by severe deficiency of beta-lipoproteins and abnormal red blood cells (acanthocytes) and abnormally low cholesterol levels
inborn error of metabolism - any of a number of diseases in which an inherited defect (usually a missing or inadequate enzyme) results in an abnormality of metabolism
congenital megacolon, Hirschsprung's disease - congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon
mucopolysaccharidosis - any of a group of genetic disorders involving a defect in the metabolism of mucopolysaccharides resulting in greater than normal levels of mucopolysaccharides in tissues
hyperbetalipoproteinemia - a genetic disorder characterized by high levels of beta-lipoproteins and cholesterol; can lead to atherosclerosis at an early age
ichthyosis - any of several congenital diseases in which the skin is dry and scaly like a fish
branched chain ketoaciduria, maple syrup urine disease - an inherited disorder of metabolism in which the urine has a odor characteristic of maple syrup; if untreated it can lead to mental retardation and death in early childhood
McArdle's disease - an inherited disease in which abnormal amounts of glycogen accumulate in skeletal muscle; results in weakness and cramping
dystrophy, muscular dystrophy - any of several hereditary diseases of the muscular system characterized by weakness and wasting of skeletal muscles
oligodactyly - congenital condition in which some fingers or toes are missing
oligodontia - congenital condition in which some of the teeth are missing
otosclerosis - hereditary disorder in which ossification of the labyrinth of the inner ear causes tinnitus and eventual deafness
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome
autosomal recessive defect, autosomal recessive disease - a disease caused by the presence of two recessive mutant genes on an autosome
congenital pancytopenia, Fanconi's anaemia, Fanconi's anemia - a rare congenital anemia characterized by pancytopenia and hypoplasia of the bone marrow
juvenile amaurotic idiocy, Spielmeyer-Vogt disease - a congenital progressive disorder of lipid metabolism having an onset at age 5 and characterized by blindness and dementia and early death
congenital afibrinogenemia - a rare congenital disorder of blood coagulation in which no fibrinogen is found in the blood plasma
Albers-Schonberg disease, marble bones disease, osteopetrosis - an inherited disorder characterized by an increase in bone density; in severe forms the bone marrow cavity may be obliterated
nevoid elephantiasis, pachyderma - thickening of the skin (usually unilateral on an extremity) caused by congenital enlargement of lymph vessel and lymph vessel obstruction
dwarfism, nanism - a genetic abnormality resulting in short stature
lactase deficiency, lactose intolerance, milk intolerance - congenital disorder consisting of an inability to digest milk and milk products; absence or deficiency of lactase results in an inability to hydrolyze lactose
porphyria - a genetic abnormality of metabolism causing abdominal pains and mental confusion
hepatolenticular degeneration, Wilson's disease - a rare inherited disorder of copper metabolism; copper accumulates in the liver and then in the red blood cells and brain
References in periodicals archive ?
announced today the results from a proof-of-concept, Phase 1b clinical trial assessing the safety and efficacy of setmelanotide (RM-493), the company's novel melanocortin-4 receptor (MC4R) agonist, in obese patients with a heterozygous genetic defect in MC4R.
The small study, financed not by Big Pharma but by swimmers who raised charitable donations, tested Keytruda in patients with advanced colon and rectal cancers and found 92 percent of patients with the genetic defect had their disease controlled compared with 16 percent who did not carry the defect.
Melbourne, June 22 ( ANI ): Real life Popeye, Matthias Schlitte is a German arm wrestling champion, who has a superhuman right arm due to a rare genetic defect.
A GENETIC defect that causes infertility in some men could help scientists develop an effective male Pill.
Researchers at the National Institutes of Health and other institutions have found a second genetic defect that accounts for previously unexplained forms of osteogenesis imperfecta (OI), a disorder that weakens bones, sometimes results in frequent fractures and is sometimes fatal.
XLP, also known as Duncan's syndrome, is an inherited genetic defect that causes immune system dysfunction in response to some viral infections.
Among children with a clinical syndrome of IFN[gamma]-receptor deficiency, a clear genetic defect was identified in [approximately equal to] 20%.
It is fairly clear that patients who experience ototoxicity-induced hearing loss as a result of aminoglycoside administration have a genetic defect.
A genetic defect in genes responsible for detoxifing environmental tobacco smoke could increase the risk of childhood asthma from passive smoking, research today reveals.
Experts at Cambridge University's unit at Addenbrooke's Hospital, to whom the girl was referred, are adamant that she suffered from a genetic defect, it has been reported.
The genetic defect responsible for many cases of this type of ED has been identified, making DNA diagnostic studies possible.
Post viability, the decision remains that of the woman and the people whom she chooses to consult--if an abortion is necessary to protect the life or health of the woman or the ferns is affected by genetic defect or serious deformity or abnormality.