genetic disorder


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genetic disorder

n.
A pathological condition caused by an absent or defective gene or by a chromosomal aberration. Also called hereditary disease.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.genetic disorder - a disease or disorder that is inherited geneticallygenetic disorder - a disease or disorder that is inherited genetically
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 ?
Fact.MR has announced the addition of the "Genetic Disorder Therapeutics Market Forecast, Trend Analysis & Competition Tracking - Global Market Insights 2018 to 2026"report to their offering.
"My sister Fiona was a play therapist at Sydney's Children's Hospital and Chelsea and Westminster and now works for the blind charity Henshaws so I have heard many stories that she has spoken about that are a result of a genetic disorder.
Summary: Genetic disorder therapeutics or gene therapy is the treatment for either genetic disorders or for the rare diseases
The number of adults under 50 having heart attacks has risen by two per cent each year in the last decade and nearly one in 10 patients has a genetic disorder that causes high cholesterol.
2 WE CAN'T CHANGE OUR GENES ONCE a genetic disorder has been diagnosed, there may be treatments and interventions available to help manage the symptoms, but sometimes there's no medication that can help.
"one has an alteration disrupts a gene, that can a genetic disorder." hile some genetic disorders quite common, others are edibly rare, and can range from ild to life-threatening.
Scientific discovery company The Grace Science Foundation (GSF) reported on Wednesday the establishment of the world's first and only NGLY1 Deficiency registry that provides invaluable resources to the medical community racing to find a cure for this rare genetic disorder.
Al Araimi added, "The idea of the programme is to establish a genetic counselling unit in every governorate of the Sultanate, which aims to specialise in genetic counselling as a treatment and preventative measure when dealing with genetic disorders. Secondly, it is to be used to raise public awareness, by informing the public about genetic disorders and premarital testing." If parents carry a genetic disorder, there is a 25 per cent chance of having an affected baby.
Gao cautions that the number of recessive disease mutations will vary from person to person, and the new number does not necessarily help predict a specific couple's risk for passing on a genetic disorder. She also points out that most worldwide infant mortality is caused by nongenetic factors, such as poor nutrition and infectious disease, rather than inherited disorders.
We are delighted to be taking part in Jeans for Genes day alongside the other companies at Lakeview West, it is a really important charity working to make the lives of children effected by genetic disorder better."
A HEARTBROKEN father who lost his eightyear-old daughter to a rare genetic disorder has told how her fighting spirit has inspired him to bring festive cheer to other terminally-ill children.