genetic disorder

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Related to Single-gene disorder: Hereditary diseases, Genetic diseases, inherited diseases

genetic disorder

n.
A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease.
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Noun1.genetic disorder - a disease or disorder that is inherited geneticallygenetic disorder - 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 ?
Thalassaemia is the most common single-gene disorder found in the Indian descendents in Natal.
Roughly 2% of the population is born with a single-gene disorder involving any of about 5,000 genes.
AD, on the other hand, is not a single-gene disorder.
In fact, PhaseRx's first therapeutic indication is a single-gene disorder in the liver for which there are no curative therapeutics on the market.
Despite the thousands of single-gene tests on the market, diagnosticians estimate that clear mutations are not found in 30% to 50% of patients tested who present with a single-gene disorder.
The selected therapeutic indication is a single-gene disorder in the liver for which there are limited treatment options for patients and is associated with severe consequences for patients.
Mutations in the genes coding for the [beta] and [gamma] subunits of ENaC have been implicated in Liddle syndrome (pseudohyperaldosteronism), an autosomal-dominantly inherited single-gene disorder in which increased reabsorption of sodium and water in the renal tubule leads to hypertension (12).
Prenatal DNA diagnosis of a single-gene disorder from maternal plasma.
Both of these invasive methods come with the risk of complications such as miscarriage, but Wilson and other single-gene disorders like it are difficult to diagnose using safer non-invasive methods--which analyze fetal DNA in the mother's blood--because the fetal gene of interest is present in the mother's blood at such low levels.
and her colleagues was presented at the American Society of Human Genetics meeting in Boston regarding trisomy 21 (Down syndrome), and it caught my attention despite the onslaught of NSG data presented related to single-gene disorders.
Lead author Professor Jeanne Lawrence, from the University of Massachusetts in Boston, said: "The last decade has seen great advances in efforts to correct single-gene disorders, beginning with cells in vitro (in the laboratory) and in several cases advancing to in vivo and clinical trials.
As a result, after a few early successes with atypical single-gene disorders such as Huntington's disease, progress has stalled.