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.
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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 ?
By using this technique, it is possible to reduce the burden of this heritable disease on the family and eventually, the human population.
By using this technique, it's possible to reduce the burden of this heritable disease on the family and eventually the human population.
Epidermodyplasia verruciformis (EV) is a rare heritable disease that is characterized by an increased susceptibility to infection with specific human papillomavirus (HPV) types due to a defect in cell-mediated immune response to HPV infection.
Persons seriously contemplating the use of germ line gene editing to correct a heritable disease will need to carefully consider the nature of the health condition they aim to correct, as well as the availability of alternative, safer treatment options.
The Universitys researchers are making landmark discoveries in fields spanning human heritable disease, cancer, agriculture and biofuels manufacture and they depend on our IT team to provide them with the fastest, most efficient data storage and compute systems to support their data-heavy work, said Professor David Abramson, University of Queensland Research Computing Center director.
With this in place, we are gradually expanding our knowledgebase and tweaking the technology to address screening for heritable disease, analyzing tumors for relevant targeted therapies, and other areas.
If those in power can compel a person to receive an injection against his or her will to ward off diseases said to be communicable, than what is to stop the state from forcibly requiring that all Americans be tested for, say, heritable disease and sterilized if they are found genetically predisposed to pass on diseases that burden society, such as certain forms of breast cancer, Down syndrome, cystic fibrosis, hemophilia, polycystic kidney disease, sickle-cell disease, or Tay-Sachs disease?
A chapter is devoted to the use of iPSCs grown in vitro to study heritable disease, specifically arrhythmogenic heart disease, at a patient-specific level.
The Secretary's Advisory Committee on Heritable Disease in Newborns and Children (SACHDNC), which was formed in 2003 to advise the Secretary of the Health and Human Services (HHS) on newborn screening, was tasked with the development of a national recommended panel for newborn screening conditions to be included on state panels.
Classical genetic studies proved that schizophrenia is a highly heritable disease.
Being able to offer genetic counseling and testing before conception gives couples more time and options if they are at risk for heritable disease, according to the ACOG policy For example, couples may choose not to conceive, use a gamete donor, or obtain preimplantation genetic diagnosis.
Furthermore, we are learning that the genetic disease risk defined by single-nucleotide variants often only accounts for a small portion of the overall heritable disease risk.