genetic disorder

(redirected from Genetic diseases)
Also found in: Thesaurus, Medical.

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
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 ?
We need such conferences to reach our communities and societies for them to have optimal preventive standards from genetic diseases, and also to cast light on the successful experiences and best practices in developed countries concerning genetic and inherited diseases," Dr Mariam Mattar, chairman of UAE Genetic Disease Association, said.
Szoka suggests that the best use for his potential vectors will be for treating genetic diseases, especially those of the liver.
Preimplantation genetic diagnosis (PGD) - an advanced technique that involves checking the cells (via biopsy) of a developing embryo for genetic and chromosomal abnormalities and thus helping to prevent serious transmissible genetic diseases
Dubai: Top international scientists are meeting in Dubai to help bring new treatments for the genetic diseases common in the UAE and the region.
By partnering with The Global Genes Project, The Balancing Act is able to provide available support to patients diagnosed with rare and genetic diseases, and to give hope with news of clinical trials and new treatments, and begin a new wave of advocacy and support for the rare community.
Now, amniocentesis and chorionic villus sampling can tell expectant parents whether their child will be born with sickle-cell anemia, thalassemia, or certain other genetic diseases.
In addition to corrective therapy for genetic diseases such as retinitis pigmentosa, nucleic acid nanoparticles may provide effective treatments for more complex disorders such as diabetic retinopathy, macular degeneration, and various diseases that injure ganglion cells and the optic nerve.
The reason the scientists are gathering here is because genetic diseases are a major public health problem in the UAE and the Arab world.
Though many genetic diseases are caused simply by a dearth of a gene's normal protein, ribozyme-based gene therapy would be especially useful for diseases in which a genetic mutation results in the production of a damaging protein.
These genetic diseases can lead to fatal health conditions, but can be managed and even prevented if caught at birth.
This was arranged to provide maximum benefit desired for people in term of advice on genetic diseases.
The current climate of excitement that surrounds gene therapy left the panel concerned that people with genetic diseases would come to expect quick cures for their problems.